Incidental Mutation 'R0433:Spen'
| ID |
38913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spen
|
| Ensembl Gene |
ENSMUSG00000040761 |
| Gene Name |
spen family transcription repressor |
| Synonyms |
Mint |
| MMRRC Submission |
038635-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0433 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141195201-141265908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141211069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 608
(M608K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078886]
[ENSMUST00000105786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000078886
AA Change: M608K
|
| SMART Domains |
Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761
AA Change: M608K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
7 |
77 |
7.77e-12 |
SMART |
|
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
311 |
N/A |
INTRINSIC |
|
RRM
|
338 |
411 |
8.6e-5 |
SMART |
|
RRM
|
441 |
511 |
1.56e-16 |
SMART |
|
RRM
|
520 |
587 |
1.84e-13 |
SMART |
|
low complexity region
|
617 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
773 |
N/A |
INTRINSIC |
|
coiled coil region
|
800 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
841 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
844 |
954 |
6.27e-5 |
PROSPERO |
|
coiled coil region
|
1494 |
1522 |
N/A |
INTRINSIC |
|
low complexity region
|
1587 |
1627 |
N/A |
INTRINSIC |
|
low complexity region
|
1635 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1642 |
1671 |
N/A |
INTRINSIC |
|
low complexity region
|
1747 |
1758 |
N/A |
INTRINSIC |
|
low complexity region
|
1810 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1888 |
1903 |
N/A |
INTRINSIC |
|
low complexity region
|
1940 |
1955 |
N/A |
INTRINSIC |
|
low complexity region
|
2003 |
2012 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2015 |
2115 |
6.27e-5 |
PROSPERO |
|
low complexity region
|
2127 |
2147 |
N/A |
INTRINSIC |
|
low complexity region
|
2169 |
2191 |
N/A |
INTRINSIC |
|
low complexity region
|
2207 |
2219 |
N/A |
INTRINSIC |
|
low complexity region
|
2304 |
2323 |
N/A |
INTRINSIC |
|
low complexity region
|
2332 |
2371 |
N/A |
INTRINSIC |
|
low complexity region
|
2396 |
2413 |
N/A |
INTRINSIC |
|
low complexity region
|
2518 |
2533 |
N/A |
INTRINSIC |
|
low complexity region
|
2545 |
2555 |
N/A |
INTRINSIC |
|
low complexity region
|
2696 |
2722 |
N/A |
INTRINSIC |
|
low complexity region
|
2931 |
2942 |
N/A |
INTRINSIC |
|
low complexity region
|
2994 |
3006 |
N/A |
INTRINSIC |
|
low complexity region
|
3192 |
3212 |
N/A |
INTRINSIC |
|
low complexity region
|
3299 |
3337 |
N/A |
INTRINSIC |
|
Pfam:SPOC
|
3465 |
3586 |
2.7e-29 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105786
AA Change: M608K
|
| SMART Domains |
Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761
AA Change: M608K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
7 |
77 |
7.77e-12 |
SMART |
|
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
311 |
N/A |
INTRINSIC |
|
RRM
|
338 |
411 |
8.6e-5 |
SMART |
|
RRM
|
441 |
511 |
1.56e-16 |
SMART |
|
RRM
|
520 |
587 |
1.84e-13 |
SMART |
|
low complexity region
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
796 |
N/A |
INTRINSIC |
|
coiled coil region
|
823 |
848 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
864 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
867 |
977 |
8.58e-5 |
PROSPERO |
|
coiled coil region
|
1517 |
1545 |
N/A |
INTRINSIC |
|
low complexity region
|
1610 |
1650 |
N/A |
INTRINSIC |
|
low complexity region
|
1658 |
1664 |
N/A |
INTRINSIC |
|
low complexity region
|
1665 |
1694 |
N/A |
INTRINSIC |
|
low complexity region
|
1770 |
1781 |
N/A |
INTRINSIC |
|
low complexity region
|
1833 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1911 |
1926 |
N/A |
INTRINSIC |
|
low complexity region
|
1963 |
1978 |
N/A |
INTRINSIC |
|
low complexity region
|
2026 |
2035 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2038 |
2138 |
8.58e-5 |
PROSPERO |
|
low complexity region
|
2150 |
2170 |
N/A |
INTRINSIC |
|
low complexity region
|
2192 |
2214 |
N/A |
INTRINSIC |
|
low complexity region
|
2230 |
2242 |
N/A |
INTRINSIC |
|
low complexity region
|
2327 |
2346 |
N/A |
INTRINSIC |
|
low complexity region
|
2355 |
2394 |
N/A |
INTRINSIC |
|
low complexity region
|
2419 |
2436 |
N/A |
INTRINSIC |
|
low complexity region
|
2541 |
2556 |
N/A |
INTRINSIC |
|
low complexity region
|
2568 |
2578 |
N/A |
INTRINSIC |
|
low complexity region
|
2719 |
2745 |
N/A |
INTRINSIC |
|
low complexity region
|
2954 |
2965 |
N/A |
INTRINSIC |
|
low complexity region
|
3017 |
3029 |
N/A |
INTRINSIC |
|
low complexity region
|
3215 |
3235 |
N/A |
INTRINSIC |
|
low complexity region
|
3322 |
3360 |
N/A |
INTRINSIC |
|
Pfam:SPOC
|
3488 |
3609 |
2.7e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152411
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.3%
|
| Validation Efficiency |
99% (108/109) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
T |
C |
3: 68,777,636 (GRCm39) |
V199A |
possibly damaging |
Het |
| Abcb5 |
T |
C |
12: 118,841,545 (GRCm39) |
M967V |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,379,591 (GRCm39) |
L951Q |
probably damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,032 (GRCm39) |
S76C |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,675,877 (GRCm39) |
I182M |
probably benign |
Het |
| Bpi |
A |
G |
2: 158,100,339 (GRCm39) |
D42G |
probably damaging |
Het |
| C7 |
G |
T |
15: 5,018,398 (GRCm39) |
T815K |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
| Camk1g |
A |
G |
1: 193,036,366 (GRCm39) |
F165L |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,943,716 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
A |
C |
14: 36,640,486 (GRCm39) |
F37L |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,814,210 (GRCm39) |
F208S |
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,814,942 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
A |
C |
5: 5,699,853 (GRCm39) |
D62E |
probably damaging |
Het |
| Cnksr2 |
A |
T |
X: 156,671,554 (GRCm39) |
M483K |
probably benign |
Het |
| Cnksr2 |
C |
A |
X: 156,671,553 (GRCm39) |
M483I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,783,110 (GRCm39) |
S60G |
possibly damaging |
Het |
| Col4a3 |
C |
T |
1: 82,647,940 (GRCm39) |
P484S |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,945,193 (GRCm39) |
G974R |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,246,046 (GRCm39) |
S1473P |
probably benign |
Het |
| Dbnl |
T |
G |
11: 5,746,825 (GRCm39) |
|
probably null |
Het |
| Dhcr7 |
T |
C |
7: 143,394,200 (GRCm39) |
C114R |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,350,114 (GRCm39) |
D2340Y |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,960,450 (GRCm39) |
N67D |
probably benign |
Het |
| Dusp10 |
T |
A |
1: 183,801,393 (GRCm39) |
Y387N |
probably damaging |
Het |
| Eipr1 |
C |
T |
12: 28,909,330 (GRCm39) |
T199I |
possibly damaging |
Het |
| Emc2 |
T |
G |
15: 43,360,520 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
G |
10: 24,696,495 (GRCm39) |
S147P |
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,608,560 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,477,686 (GRCm39) |
T2244K |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,190,135 (GRCm39) |
S1453P |
possibly damaging |
Het |
| Fez2 |
A |
T |
17: 78,725,476 (GRCm39) |
F13I |
probably damaging |
Het |
| Ggnbp2 |
T |
C |
11: 84,727,246 (GRCm39) |
K530R |
probably damaging |
Het |
| Gpa33 |
T |
C |
1: 165,991,330 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
T |
C |
11: 114,696,823 (GRCm39) |
I123T |
probably damaging |
Het |
| Il21 |
T |
G |
3: 37,286,684 (GRCm39) |
I11L |
possibly damaging |
Het |
| Klhl7 |
A |
G |
5: 24,332,700 (GRCm39) |
E86G |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,430,989 (GRCm39) |
A11S |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,934,542 (GRCm39) |
D2115V |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,360,582 (GRCm39) |
D185G |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,102,822 (GRCm39) |
|
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,624,434 (GRCm39) |
I698V |
probably damaging |
Het |
| Lzts2 |
T |
C |
19: 45,010,115 (GRCm39) |
V83A |
possibly damaging |
Het |
| Melk |
C |
A |
4: 44,340,614 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,486 (GRCm39) |
V150I |
probably benign |
Het |
| Morn3 |
C |
A |
5: 123,177,396 (GRCm39) |
M129I |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,116 (GRCm39) |
D1040E |
probably benign |
Het |
| Mroh5 |
T |
C |
15: 73,661,877 (GRCm39) |
N438S |
probably benign |
Het |
| Mroh5 |
T |
A |
15: 73,662,657 (GRCm39) |
Q387L |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,599 (GRCm39) |
D1168G |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,860,927 (GRCm38) |
E493G |
probably benign |
Het |
| Nipsnap3a |
A |
G |
4: 53,000,316 (GRCm39) |
Y227C |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,085,244 (GRCm39) |
T112S |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,629 (GRCm39) |
V401A |
probably benign |
Het |
| Nr1h2 |
A |
G |
7: 44,199,411 (GRCm39) |
*365Q |
probably null |
Het |
| Or13p5 |
T |
C |
4: 118,592,287 (GRCm39) |
V187A |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,469 (GRCm39) |
I207T |
probably damaging |
Het |
| Pacs2 |
T |
A |
12: 113,020,464 (GRCm39) |
V279D |
possibly damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,746,646 (GRCm39) |
C171Y |
probably benign |
Het |
| Pde11a |
T |
A |
2: 76,168,050 (GRCm39) |
D301V |
possibly damaging |
Het |
| Pfpl |
T |
G |
19: 12,406,839 (GRCm39) |
N363K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,933,742 (GRCm39) |
S201R |
probably damaging |
Het |
| Pip4k2c |
G |
A |
10: 127,044,815 (GRCm39) |
P66S |
probably benign |
Het |
| Pou2f3 |
G |
T |
9: 43,038,693 (GRCm39) |
H392N |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,697 (GRCm39) |
G400C |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,220,620 (GRCm38) |
I1219T |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,124 (GRCm39) |
D435G |
probably damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,084,899 (GRCm39) |
S598T |
probably benign |
Het |
| Sdccag8 |
C |
A |
1: 176,672,387 (GRCm39) |
|
probably null |
Het |
| Sec16b |
C |
A |
1: 157,362,279 (GRCm39) |
Y43* |
probably null |
Het |
| Sele |
T |
C |
1: 163,876,813 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Sgsm2 |
C |
T |
11: 74,749,016 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
T |
C |
15: 11,025,831 (GRCm39) |
Y394H |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,120,327 (GRCm39) |
I788S |
probably benign |
Het |
| Slmap |
A |
T |
14: 26,174,749 (GRCm39) |
L161* |
probably null |
Het |
| Slx4 |
A |
T |
16: 3,803,882 (GRCm39) |
D977E |
probably benign |
Het |
| Spata31e5 |
A |
T |
1: 28,816,423 (GRCm39) |
Y536* |
probably null |
Het |
| Spata31f3 |
A |
G |
4: 42,874,013 (GRCm39) |
|
probably benign |
Het |
| St8sia4 |
G |
C |
1: 95,519,429 (GRCm39) |
T353R |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,679,355 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
C |
T |
4: 132,585,741 (GRCm39) |
G213D |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,084,123 (GRCm39) |
N270Y |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 111,992,015 (GRCm39) |
R438* |
probably null |
Het |
| Tert |
T |
C |
13: 73,775,200 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,303,245 (GRCm39) |
F244L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,401 (GRCm39) |
F852L |
possibly damaging |
Het |
| Trpv1 |
T |
C |
11: 73,143,834 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
G |
9: 120,873,885 (GRCm39) |
I1182T |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,752,288 (GRCm39) |
Y98H |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,906,105 (GRCm39) |
I854V |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,603,464 (GRCm39) |
S361G |
probably damaging |
Het |
| Uspl1 |
C |
A |
5: 149,151,625 (GRCm39) |
Q743K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,183,054 (GRCm39) |
V215A |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,915,335 (GRCm39) |
H94L |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,690,393 (GRCm39) |
V285A |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,300,116 (GRCm39) |
V983A |
probably damaging |
Het |
| Zcchc9 |
C |
T |
13: 91,954,081 (GRCm39) |
R58H |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,345,302 (GRCm39) |
V1227A |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,959 (GRCm39) |
K64E |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,764 (GRCm39) |
T319A |
probably benign |
Het |
| Zp3r |
T |
G |
1: 130,504,870 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spen |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Spen
|
APN |
4 |
141,217,212 (GRCm39) |
missense |
unknown |
|
|
IGL01357:Spen
|
APN |
4 |
141,244,424 (GRCm39) |
missense |
unknown |
|
|
IGL02184:Spen
|
APN |
4 |
141,214,917 (GRCm39) |
missense |
unknown |
|
|
IGL02226:Spen
|
APN |
4 |
141,205,457 (GRCm39) |
missense |
unknown |
|
|
IGL02321:Spen
|
APN |
4 |
141,244,441 (GRCm39) |
missense |
unknown |
|
|
IGL02350:Spen
|
APN |
4 |
141,204,890 (GRCm39) |
missense |
unknown |
|
|
IGL02357:Spen
|
APN |
4 |
141,204,890 (GRCm39) |
missense |
unknown |
|
|
IGL02627:Spen
|
APN |
4 |
141,200,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02683:Spen
|
APN |
4 |
141,198,956 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02945:Spen
|
APN |
4 |
141,221,624 (GRCm39) |
missense |
unknown |
|
|
IGL02950:Spen
|
APN |
4 |
141,196,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Spen
|
APN |
4 |
141,203,448 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03019:Spen
|
APN |
4 |
141,206,227 (GRCm39) |
missense |
unknown |
|
|
IGL03038:Spen
|
APN |
4 |
141,265,550 (GRCm39) |
missense |
unknown |
|
|
IGL03334:Spen
|
APN |
4 |
141,197,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
filtered
|
UTSW |
4 |
141,204,683 (GRCm39) |
missense |
unknown |
|
|
mentholated
|
UTSW |
4 |
141,196,711 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0105:Spen
|
UTSW |
4 |
141,197,121 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Spen
|
UTSW |
4 |
141,204,868 (GRCm39) |
missense |
unknown |
|
|
R0359:Spen
|
UTSW |
4 |
141,244,181 (GRCm39) |
missense |
unknown |
|
|
R0394:Spen
|
UTSW |
4 |
141,201,514 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0423:Spen
|
UTSW |
4 |
141,206,647 (GRCm39) |
missense |
unknown |
|
|
R0462:Spen
|
UTSW |
4 |
141,200,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0687:Spen
|
UTSW |
4 |
141,215,339 (GRCm39) |
missense |
unknown |
|
|
R0699:Spen
|
UTSW |
4 |
141,201,702 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0865:Spen
|
UTSW |
4 |
141,199,181 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0918:Spen
|
UTSW |
4 |
141,212,875 (GRCm39) |
missense |
unknown |
|
|
R1034:Spen
|
UTSW |
4 |
141,203,063 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1341:Spen
|
UTSW |
4 |
141,196,711 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1401:Spen
|
UTSW |
4 |
141,199,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1509:Spen
|
UTSW |
4 |
141,203,011 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1509:Spen
|
UTSW |
4 |
141,202,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1561:Spen
|
UTSW |
4 |
141,199,694 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Spen
|
UTSW |
4 |
141,215,335 (GRCm39) |
missense |
unknown |
|
|
R1640:Spen
|
UTSW |
4 |
141,196,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1758:Spen
|
UTSW |
4 |
141,203,686 (GRCm39) |
missense |
unknown |
|
|
R1764:Spen
|
UTSW |
4 |
141,200,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Spen
|
UTSW |
4 |
141,200,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Spen
|
UTSW |
4 |
141,197,654 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1916:Spen
|
UTSW |
4 |
141,199,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Spen
|
UTSW |
4 |
141,200,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Spen
|
UTSW |
4 |
141,204,584 (GRCm39) |
missense |
unknown |
|
|
R2379:Spen
|
UTSW |
4 |
141,244,238 (GRCm39) |
missense |
unknown |
|
|
R2404:Spen
|
UTSW |
4 |
141,205,216 (GRCm39) |
missense |
unknown |
|
|
R3719:Spen
|
UTSW |
4 |
141,244,494 (GRCm39) |
missense |
unknown |
|
|
R3889:Spen
|
UTSW |
4 |
141,205,192 (GRCm39) |
missense |
unknown |
|
|
R3945:Spen
|
UTSW |
4 |
141,204,664 (GRCm39) |
missense |
unknown |
|
|
R4227:Spen
|
UTSW |
4 |
141,249,458 (GRCm39) |
missense |
unknown |
|
|
R4326:Spen
|
UTSW |
4 |
141,204,683 (GRCm39) |
missense |
unknown |
|
|
R4382:Spen
|
UTSW |
4 |
141,200,450 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4542:Spen
|
UTSW |
4 |
141,204,097 (GRCm39) |
missense |
unknown |
|
|
R4757:Spen
|
UTSW |
4 |
141,200,390 (GRCm39) |
nonsense |
probably null |
|
|
R4771:Spen
|
UTSW |
4 |
141,199,907 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5072:Spen
|
UTSW |
4 |
141,249,613 (GRCm39) |
missense |
unknown |
|
|
R5121:Spen
|
UTSW |
4 |
141,203,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5176:Spen
|
UTSW |
4 |
141,203,587 (GRCm39) |
missense |
unknown |
|
|
R5290:Spen
|
UTSW |
4 |
141,201,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Spen
|
UTSW |
4 |
141,215,390 (GRCm39) |
missense |
unknown |
|
|
R5293:Spen
|
UTSW |
4 |
141,199,717 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5347:Spen
|
UTSW |
4 |
141,198,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5511:Spen
|
UTSW |
4 |
141,244,149 (GRCm39) |
missense |
unknown |
|
|
R5511:Spen
|
UTSW |
4 |
141,202,375 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5772:Spen
|
UTSW |
4 |
141,205,495 (GRCm39) |
missense |
unknown |
|
|
R5834:Spen
|
UTSW |
4 |
141,199,154 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5858:Spen
|
UTSW |
4 |
141,201,182 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6214:Spen
|
UTSW |
4 |
141,206,423 (GRCm39) |
missense |
unknown |
|
|
R6232:Spen
|
UTSW |
4 |
141,244,333 (GRCm39) |
missense |
unknown |
|
|
R6345:Spen
|
UTSW |
4 |
141,198,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6419:Spen
|
UTSW |
4 |
141,203,621 (GRCm39) |
missense |
unknown |
|
|
R6455:Spen
|
UTSW |
4 |
141,202,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6979:Spen
|
UTSW |
4 |
141,205,374 (GRCm39) |
missense |
unknown |
|
|
R6994:Spen
|
UTSW |
4 |
141,220,770 (GRCm39) |
missense |
unknown |
|
|
R7018:Spen
|
UTSW |
4 |
141,220,755 (GRCm39) |
missense |
unknown |
|
|
R7040:Spen
|
UTSW |
4 |
141,221,693 (GRCm39) |
missense |
unknown |
|
|
R7127:Spen
|
UTSW |
4 |
141,203,419 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7218:Spen
|
UTSW |
4 |
141,199,961 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7234:Spen
|
UTSW |
4 |
141,206,446 (GRCm39) |
missense |
unknown |
|
|
R7316:Spen
|
UTSW |
4 |
141,204,365 (GRCm39) |
missense |
unknown |
|
|
R7350:Spen
|
UTSW |
4 |
141,206,696 (GRCm39) |
missense |
unknown |
|
|
R7356:Spen
|
UTSW |
4 |
141,199,235 (GRCm39) |
nonsense |
probably null |
|
|
R7400:Spen
|
UTSW |
4 |
141,201,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Spen
|
UTSW |
4 |
141,206,605 (GRCm39) |
missense |
unknown |
|
|
R7698:Spen
|
UTSW |
4 |
141,200,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7858:Spen
|
UTSW |
4 |
141,215,442 (GRCm39) |
splice site |
probably null |
|
|
R8033:Spen
|
UTSW |
4 |
141,199,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8064:Spen
|
UTSW |
4 |
141,203,011 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8159:Spen
|
UTSW |
4 |
141,202,314 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8187:Spen
|
UTSW |
4 |
141,200,216 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8463:Spen
|
UTSW |
4 |
141,249,590 (GRCm39) |
missense |
unknown |
|
|
R8557:Spen
|
UTSW |
4 |
141,197,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8558:Spen
|
UTSW |
4 |
141,197,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8672:Spen
|
UTSW |
4 |
141,197,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8673:Spen
|
UTSW |
4 |
141,197,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8674:Spen
|
UTSW |
4 |
141,197,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8714:Spen
|
UTSW |
4 |
141,215,314 (GRCm39) |
missense |
unknown |
|
|
R8735:Spen
|
UTSW |
4 |
141,197,129 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8762:Spen
|
UTSW |
4 |
141,200,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Spen
|
UTSW |
4 |
141,199,137 (GRCm39) |
nonsense |
probably null |
|
|
R8878:Spen
|
UTSW |
4 |
141,204,520 (GRCm39) |
missense |
unknown |
|
|
R8937:Spen
|
UTSW |
4 |
141,201,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Spen
|
UTSW |
4 |
141,202,969 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8968:Spen
|
UTSW |
4 |
141,197,701 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Spen
|
UTSW |
4 |
141,201,889 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9016:Spen
|
UTSW |
4 |
141,200,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Spen
|
UTSW |
4 |
141,203,702 (GRCm39) |
missense |
unknown |
|
|
R9073:Spen
|
UTSW |
4 |
141,203,702 (GRCm39) |
missense |
unknown |
|
|
R9120:Spen
|
UTSW |
4 |
141,200,233 (GRCm39) |
missense |
|
|
|
R9136:Spen
|
UTSW |
4 |
141,249,623 (GRCm39) |
missense |
unknown |
|
|
R9138:Spen
|
UTSW |
4 |
141,196,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Spen
|
UTSW |
4 |
141,244,468 (GRCm39) |
missense |
unknown |
|
|
R9225:Spen
|
UTSW |
4 |
141,202,943 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9492:Spen
|
UTSW |
4 |
141,199,098 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9537:Spen
|
UTSW |
4 |
141,244,156 (GRCm39) |
small deletion |
probably benign |
|
|
R9537:Spen
|
UTSW |
4 |
141,199,015 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9602:Spen
|
UTSW |
4 |
141,205,183 (GRCm39) |
missense |
unknown |
|
|
R9609:Spen
|
UTSW |
4 |
141,215,419 (GRCm39) |
missense |
unknown |
|
|
R9686:Spen
|
UTSW |
4 |
141,199,946 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9697:Spen
|
UTSW |
4 |
141,196,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9713:Spen
|
UTSW |
4 |
141,244,331 (GRCm39) |
missense |
unknown |
|
|
T0722:Spen
|
UTSW |
4 |
141,201,664 (GRCm39) |
missense |
probably benign |
0.33 |
|
T0975:Spen
|
UTSW |
4 |
141,201,664 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1088:Spen
|
UTSW |
4 |
141,205,287 (GRCm39) |
missense |
unknown |
|
|
Z1088:Spen
|
UTSW |
4 |
141,205,288 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCACTGACAGGTGGCGA -3'
(R):5'- CCTAGTGACAGCATGGCACAGGATA -3'
Sequencing Primer
(F):5'- AAGTGACCAGACTGAGGGAT -3'
(R):5'- TGCAAATCGGGAAAGCCA -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation