Incidental Mutation 'R7117:Spef2'
| ID |
551885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spef2
|
| Ensembl Gene |
ENSMUSG00000072663 |
| Gene Name |
sperm flagellar 2 |
| Synonyms |
C230086A09Rik |
| MMRRC Submission |
045208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7117 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9578279-9748954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9729924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 65
(R65C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041840]
[ENSMUST00000159093]
[ENSMUST00000159368]
[ENSMUST00000160236]
[ENSMUST00000162780]
[ENSMUST00000208854]
|
| AlphaFold |
Q8C9J3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041840
AA Change: R65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035762
Gene: ENSMUSG00000072663
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
161 |
2.8e-59 |
PFAM |
|
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
|
Pfam:ADK
|
600 |
829 |
5.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159093
AA Change: R65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124891
Gene: ENSMUSG00000072663
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
166 |
3.5e-57 |
PFAM |
|
coiled coil region
|
167 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
369 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159368
AA Change: R65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124723
Gene: ENSMUSG00000072663
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
162 |
1.4e-59 |
PFAM |
|
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160236
AA Change: R65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124222
Gene: ENSMUSG00000072663
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
160 |
4.6e-59 |
PFAM |
|
coiled coil region
|
171 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
312 |
345 |
N/A |
INTRINSIC |
|
Pfam:ADK
|
600 |
787 |
3.7e-10 |
PFAM |
|
low complexity region
|
819 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1225 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1359 |
N/A |
INTRINSIC |
|
SCOP:d1rec__
|
1368 |
1520 |
3e-3 |
SMART |
|
low complexity region
|
1595 |
1614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162780
AA Change: R65C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124393
Gene: ENSMUSG00000072663
AA Change: R65C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1042
|
5 |
164 |
1.1e-57 |
PFAM |
|
coiled coil region
|
167 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
313 |
N/A |
INTRINSIC |
|
coiled coil region
|
369 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208854
AA Change: R65C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
97% (95/98) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility due to oligospermia and abnormal spermatogenesis, hydroencephaly, sinusitis, and background-dependent lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,339,250 (GRCm39) |
Y254C |
probably benign |
Het |
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,518,191 (GRCm39) |
I650V |
probably benign |
Het |
| Adam39 |
G |
T |
8: 41,279,279 (GRCm39) |
G557C |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,321,493 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
C |
T |
4: 140,291,497 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
C |
T |
18: 61,637,481 (GRCm39) |
E394K |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,742,841 (GRCm39) |
V13A |
|
Het |
| Bnc1 |
G |
T |
7: 81,623,109 (GRCm39) |
A706E |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,825,878 (GRCm39) |
A421T |
possibly damaging |
Het |
| Btn1a1 |
A |
C |
13: 23,643,415 (GRCm39) |
W345G |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,519,655 (GRCm39) |
M1199K |
probably benign |
Het |
| Ccdc18 |
T |
G |
5: 108,296,835 (GRCm39) |
L213V |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,228,072 (GRCm39) |
|
probably null |
Het |
| Chpt1 |
T |
A |
10: 88,316,711 (GRCm39) |
H249L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,364 (GRCm39) |
E224G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 10,904,704 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
A |
G |
6: 8,013,122 (GRCm39) |
S977P |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,560,843 (GRCm39) |
K52E |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,172 (GRCm39) |
H239Q |
probably damaging |
Het |
| Cr2 |
A |
T |
1: 194,842,909 (GRCm39) |
N244K |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,385 (GRCm39) |
D590G |
probably damaging |
Het |
| Defb25 |
A |
C |
2: 152,464,380 (GRCm39) |
C55G |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,391,973 (GRCm39) |
|
probably null |
Het |
| Dvl3 |
T |
A |
16: 20,346,072 (GRCm39) |
Y467* |
probably null |
Het |
| Elapor2 |
T |
A |
5: 9,495,384 (GRCm39) |
C729* |
probably null |
Het |
| Extl2 |
T |
C |
3: 115,821,088 (GRCm39) |
S312P |
probably damaging |
Het |
| Fam178b |
T |
C |
1: 36,639,548 (GRCm39) |
T313A |
probably benign |
Het |
| Fam186b |
A |
G |
15: 99,183,471 (GRCm39) |
Y58H |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,484,505 (GRCm39) |
I3248L |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,172,088 (GRCm39) |
F2875S |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,894,214 (GRCm38) |
N760K |
probably benign |
Het |
| Galnt14 |
T |
C |
17: 73,801,190 (GRCm39) |
H544R |
probably benign |
Het |
| Gpr137c |
A |
C |
14: 45,516,484 (GRCm39) |
R357S |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,630 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
A |
T |
19: 36,577,055 (GRCm39) |
T342S |
probably benign |
Het |
| Hjv |
G |
T |
3: 96,435,542 (GRCm39) |
V267L |
possibly damaging |
Het |
| Ildr2 |
G |
T |
1: 166,123,380 (GRCm39) |
G270C |
probably damaging |
Het |
| Insm2 |
C |
A |
12: 55,647,357 (GRCm39) |
A367D |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,161,219 (GRCm39) |
I230F |
possibly damaging |
Het |
| Keg1 |
T |
A |
19: 12,687,042 (GRCm39) |
S24T |
probably damaging |
Het |
| Kera |
A |
T |
10: 97,448,714 (GRCm39) |
E311D |
probably benign |
Het |
| Kit |
T |
A |
5: 75,767,758 (GRCm39) |
I47K |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,343,379 (GRCm39) |
T663A |
possibly damaging |
Het |
| Mettl21c |
G |
A |
1: 44,049,808 (GRCm39) |
A79V |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,507,391 (GRCm39) |
|
probably null |
Het |
| Mob3b |
A |
G |
4: 34,985,914 (GRCm39) |
|
probably null |
Het |
| Morc2b |
T |
A |
17: 33,356,926 (GRCm39) |
H282L |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,380,889 (GRCm39) |
|
probably null |
Het |
| Mtus1 |
A |
G |
8: 41,536,621 (GRCm39) |
V365A |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,367,559 (GRCm39) |
Y2993* |
probably null |
Het |
| Mycbp2 |
A |
C |
14: 103,391,513 (GRCm39) |
F3422V |
probably benign |
Het |
| Ndufb7 |
T |
A |
8: 84,297,490 (GRCm39) |
D48E |
probably benign |
Het |
| Nxpe5 |
A |
G |
5: 138,237,704 (GRCm39) |
Y88C |
probably damaging |
Het |
| Or51a6 |
T |
A |
7: 102,604,185 (GRCm39) |
M208L |
probably benign |
Het |
| Or5d3 |
A |
G |
2: 88,174,905 (GRCm39) |
L64P |
probably damaging |
Het |
| Osbpl5 |
T |
A |
7: 143,263,520 (GRCm39) |
D121V |
probably benign |
Het |
| Oxnad1 |
A |
T |
14: 31,813,608 (GRCm39) |
H3L |
probably benign |
Het |
| Pam |
C |
A |
1: 97,904,841 (GRCm39) |
|
probably benign |
Het |
| Papolg |
T |
C |
11: 23,845,207 (GRCm39) |
|
probably benign |
Het |
| Pax1 |
G |
A |
2: 147,208,190 (GRCm39) |
G266D |
probably damaging |
Het |
| Pde11a |
A |
T |
2: 75,906,348 (GRCm39) |
M623K |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
A |
T |
2: 92,189,502 (GRCm39) |
Q587L |
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,941,746 (GRCm39) |
L336P |
probably damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,931 (GRCm39) |
*306Q |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,392 (GRCm39) |
I111M |
probably benign |
Het |
| Pramel32 |
T |
A |
4: 88,547,195 (GRCm39) |
M246L |
probably damaging |
Het |
| Prmt3 |
G |
T |
7: 49,467,843 (GRCm39) |
A350S |
probably benign |
Het |
| Rac3 |
A |
T |
11: 120,614,343 (GRCm39) |
R163* |
probably null |
Het |
| Raly |
G |
T |
2: 154,699,432 (GRCm39) |
V79L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,839,989 (GRCm39) |
T993S |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,964,987 (GRCm39) |
L56P |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,436 (GRCm39) |
H70Y |
possibly damaging |
Het |
| Sez6l2 |
A |
C |
7: 126,552,915 (GRCm39) |
E227A |
possibly damaging |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Sidt2 |
C |
T |
9: 45,864,517 (GRCm39) |
V71I |
probably benign |
Het |
| Slc35f6 |
T |
C |
5: 30,815,051 (GRCm39) |
L326P |
probably damaging |
Het |
| Sox2 |
G |
A |
3: 34,705,075 (GRCm39) |
G171S |
possibly damaging |
Het |
| Spmap2 |
A |
T |
10: 79,420,741 (GRCm39) |
|
probably null |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tada2a |
T |
A |
11: 83,976,514 (GRCm39) |
I327F |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,435,071 (GRCm39) |
V785A |
unknown |
Het |
| Thada |
C |
A |
17: 84,538,214 (GRCm39) |
|
probably null |
Het |
| Tmed1 |
G |
A |
9: 21,420,550 (GRCm39) |
T94M |
possibly damaging |
Het |
| Tsr1 |
G |
T |
11: 74,790,360 (GRCm39) |
M149I |
probably benign |
Het |
| Ttc8 |
T |
C |
12: 98,942,761 (GRCm39) |
Y434H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,552,253 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,773,235 (GRCm39) |
I2435T |
unknown |
Het |
| Uggt2 |
T |
C |
14: 119,251,938 (GRCm39) |
I1174M |
probably benign |
Het |
| Unc13b |
T |
C |
4: 43,216,544 (GRCm39) |
I281T |
probably benign |
Het |
| Usp1 |
G |
T |
4: 98,817,127 (GRCm39) |
K106N |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,174,634 (GRCm39) |
D15G |
|
Het |
| Zfp28 |
G |
A |
7: 6,397,461 (GRCm39) |
C632Y |
probably damaging |
Het |
| Zfp68 |
T |
C |
5: 138,604,580 (GRCm39) |
D581G |
probably benign |
Het |
| Zmynd10 |
A |
C |
9: 107,424,716 (GRCm39) |
S21R |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,940,681 (GRCm39) |
R806H |
probably damaging |
Het |
|
| Other mutations in Spef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Spef2
|
APN |
15 |
9,740,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00886:Spef2
|
APN |
15 |
9,663,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Spef2
|
APN |
15 |
9,716,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Spef2
|
APN |
15 |
9,676,376 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01474:Spef2
|
APN |
15 |
9,663,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01603:Spef2
|
APN |
15 |
9,704,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02320:Spef2
|
APN |
15 |
9,717,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02570:Spef2
|
APN |
15 |
9,717,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL02605:Spef2
|
APN |
15 |
9,725,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02890:Spef2
|
APN |
15 |
9,748,853 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02904:Spef2
|
APN |
15 |
9,679,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Spef2
|
APN |
15 |
9,668,960 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02953:Spef2
|
APN |
15 |
9,713,329 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02965:Spef2
|
APN |
15 |
9,725,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL03263:Spef2
|
APN |
15 |
9,667,305 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03302:Spef2
|
APN |
15 |
9,676,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Spef2
|
UTSW |
15 |
9,713,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Spef2
|
UTSW |
15 |
9,716,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0386:Spef2
|
UTSW |
15 |
9,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Spef2
|
UTSW |
15 |
9,584,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Spef2
|
UTSW |
15 |
9,592,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Spef2
|
UTSW |
15 |
9,626,217 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0829:Spef2
|
UTSW |
15 |
9,687,899 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0908:Spef2
|
UTSW |
15 |
9,614,281 (GRCm39) |
splice site |
probably null |
|
|
R0939:Spef2
|
UTSW |
15 |
9,704,636 (GRCm39) |
splice site |
probably null |
|
|
R0973:Spef2
|
UTSW |
15 |
9,716,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Spef2
|
UTSW |
15 |
9,725,194 (GRCm39) |
splice site |
probably benign |
|
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1392:Spef2
|
UTSW |
15 |
9,647,349 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1428:Spef2
|
UTSW |
15 |
9,596,793 (GRCm39) |
unclassified |
probably benign |
|
|
R1518:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Spef2
|
UTSW |
15 |
9,596,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Spef2
|
UTSW |
15 |
9,634,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1723:Spef2
|
UTSW |
15 |
9,614,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Spef2
|
UTSW |
15 |
9,679,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1818:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1873:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1875:Spef2
|
UTSW |
15 |
9,597,487 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1875:Spef2
|
UTSW |
15 |
9,584,194 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1897:Spef2
|
UTSW |
15 |
9,729,740 (GRCm39) |
nonsense |
probably null |
|
|
R1901:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Spef2
|
UTSW |
15 |
9,607,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Spef2
|
UTSW |
15 |
9,663,280 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1968:Spef2
|
UTSW |
15 |
9,609,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Spef2
|
UTSW |
15 |
9,663,152 (GRCm39) |
makesense |
probably null |
|
|
R1998:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1999:Spef2
|
UTSW |
15 |
9,668,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2008:Spef2
|
UTSW |
15 |
9,713,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2111:Spef2
|
UTSW |
15 |
9,589,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2405:Spef2
|
UTSW |
15 |
9,626,120 (GRCm39) |
nonsense |
probably null |
|
|
R2517:Spef2
|
UTSW |
15 |
9,725,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2889:Spef2
|
UTSW |
15 |
9,630,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2988:Spef2
|
UTSW |
15 |
9,682,709 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3792:Spef2
|
UTSW |
15 |
9,704,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Spef2
|
UTSW |
15 |
9,626,107 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4159:Spef2
|
UTSW |
15 |
9,676,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4199:Spef2
|
UTSW |
15 |
9,667,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4321:Spef2
|
UTSW |
15 |
9,679,429 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4568:Spef2
|
UTSW |
15 |
9,647,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Spef2
|
UTSW |
15 |
9,647,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Spef2
|
UTSW |
15 |
9,676,459 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4684:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4761:Spef2
|
UTSW |
15 |
9,653,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Spef2
|
UTSW |
15 |
9,713,264 (GRCm39) |
nonsense |
probably null |
|
|
R5004:Spef2
|
UTSW |
15 |
9,578,413 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5157:Spef2
|
UTSW |
15 |
9,668,877 (GRCm39) |
nonsense |
probably null |
|
|
R5230:Spef2
|
UTSW |
15 |
9,667,316 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5315:Spef2
|
UTSW |
15 |
9,596,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5400:Spef2
|
UTSW |
15 |
9,614,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Spef2
|
UTSW |
15 |
9,583,922 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5599:Spef2
|
UTSW |
15 |
9,729,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5605:Spef2
|
UTSW |
15 |
9,609,606 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5787:Spef2
|
UTSW |
15 |
9,748,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5939:Spef2
|
UTSW |
15 |
9,614,301 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6177:Spef2
|
UTSW |
15 |
9,727,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6641:Spef2
|
UTSW |
15 |
9,626,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6665:Spef2
|
UTSW |
15 |
9,600,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6944:Spef2
|
UTSW |
15 |
9,592,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Spef2
|
UTSW |
15 |
9,685,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Spef2
|
UTSW |
15 |
9,597,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7089:Spef2
|
UTSW |
15 |
9,725,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Spef2
|
UTSW |
15 |
9,717,689 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7223:Spef2
|
UTSW |
15 |
9,601,726 (GRCm39) |
missense |
unknown |
|
|
R7263:Spef2
|
UTSW |
15 |
9,653,098 (GRCm39) |
splice site |
probably null |
|
|
R7270:Spef2
|
UTSW |
15 |
9,600,066 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7303:Spef2
|
UTSW |
15 |
9,647,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7369:Spef2
|
UTSW |
15 |
9,584,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7464:Spef2
|
UTSW |
15 |
9,740,671 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7498:Spef2
|
UTSW |
15 |
9,727,625 (GRCm39) |
missense |
probably benign |
|
|
R7587:Spef2
|
UTSW |
15 |
9,713,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Spef2
|
UTSW |
15 |
9,653,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7772:Spef2
|
UTSW |
15 |
9,704,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7838:Spef2
|
UTSW |
15 |
9,609,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7854:Spef2
|
UTSW |
15 |
9,596,730 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7855:Spef2
|
UTSW |
15 |
9,687,981 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7889:Spef2
|
UTSW |
15 |
9,717,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Spef2
|
UTSW |
15 |
9,601,171 (GRCm39) |
missense |
unknown |
|
|
R8105:Spef2
|
UTSW |
15 |
9,682,748 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8151:Spef2
|
UTSW |
15 |
9,601,598 (GRCm39) |
missense |
unknown |
|
|
R8296:Spef2
|
UTSW |
15 |
9,727,629 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8393:Spef2
|
UTSW |
15 |
9,676,615 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8405:Spef2
|
UTSW |
15 |
9,612,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Spef2
|
UTSW |
15 |
9,600,765 (GRCm39) |
intron |
probably benign |
|
|
R8691:Spef2
|
UTSW |
15 |
9,602,005 (GRCm39) |
nonsense |
probably null |
|
|
R8751:Spef2
|
UTSW |
15 |
9,729,723 (GRCm39) |
nonsense |
probably null |
|
|
R8847:Spef2
|
UTSW |
15 |
9,668,913 (GRCm39) |
missense |
probably benign |
|
|
R8864:Spef2
|
UTSW |
15 |
9,599,833 (GRCm39) |
missense |
unknown |
|
|
R8868:Spef2
|
UTSW |
15 |
9,729,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8916:Spef2
|
UTSW |
15 |
9,725,266 (GRCm39) |
nonsense |
probably null |
|
|
R8935:Spef2
|
UTSW |
15 |
9,607,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8961:Spef2
|
UTSW |
15 |
9,647,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8978:Spef2
|
UTSW |
15 |
9,725,263 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9062:Spef2
|
UTSW |
15 |
9,601,717 (GRCm39) |
missense |
unknown |
|
|
R9076:Spef2
|
UTSW |
15 |
9,653,091 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9149:Spef2
|
UTSW |
15 |
9,717,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Spef2
|
UTSW |
15 |
9,602,017 (GRCm39) |
missense |
unknown |
|
|
R9216:Spef2
|
UTSW |
15 |
9,647,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Spef2
|
UTSW |
15 |
9,578,401 (GRCm39) |
nonsense |
probably null |
|
|
R9278:Spef2
|
UTSW |
15 |
9,727,495 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9341:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Spef2
|
UTSW |
15 |
9,713,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Spef2
|
UTSW |
15 |
9,725,307 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9476:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Spef2
|
UTSW |
15 |
9,713,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Spef2
|
UTSW |
15 |
9,601,885 (GRCm39) |
missense |
unknown |
|
|
R9575:Spef2
|
UTSW |
15 |
9,596,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Spef2
|
UTSW |
15 |
9,599,897 (GRCm39) |
missense |
unknown |
|
|
R9765:Spef2
|
UTSW |
15 |
9,601,945 (GRCm39) |
missense |
unknown |
|
|
X0025:Spef2
|
UTSW |
15 |
9,596,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTCAAGTTTGTCTGGGG -3'
(R):5'- GTTTAGATAAGCATAGCCAATGGG -3'
Sequencing Primer
(F):5'- GTTGCATGGTTTGTATCTCTAGTCC -3'
(R):5'- CCAGGCATTTTCATTACAGAGTCG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation