Incidental Mutation 'R7337:Spg11'
| ID |
569546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spg11
|
| Ensembl Gene |
ENSMUSG00000033396 |
| Gene Name |
SPG11, spatacsin vesicle trafficking associated |
| Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
| MMRRC Submission |
045427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R7337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121915474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1057
(I1057V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
| AlphaFold |
Q3UHA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036450
AA Change: I1057V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: I1057V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1305 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
|
low complexity region
|
1772 |
1784 |
N/A |
INTRINSIC |
|
Pfam:Spatacsin_C
|
2082 |
2374 |
1.1e-105 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (88/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,076,113 (GRCm39) |
H1198Q |
probably damaging |
Het |
| Adamts14 |
A |
G |
10: 61,043,239 (GRCm39) |
V743A |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,343,095 (GRCm39) |
V284A |
possibly damaging |
Het |
| Alb |
A |
G |
5: 90,622,452 (GRCm39) |
K560R |
probably damaging |
Het |
| Aqp9 |
A |
T |
9: 71,069,764 (GRCm39) |
F8L |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,835,789 (GRCm39) |
L182P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,753,501 (GRCm39) |
D701G |
probably damaging |
Het |
| Calr3 |
C |
T |
8: 73,185,339 (GRCm39) |
D187N |
probably damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,471,948 (GRCm39) |
M163T |
possibly damaging |
Het |
| Ccdc65 |
A |
G |
15: 98,618,977 (GRCm39) |
T319A |
probably benign |
Het |
| Ccdc66 |
A |
T |
14: 27,222,290 (GRCm39) |
L151H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,688 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,210,492 (GRCm39) |
|
probably null |
Het |
| Cfap74 |
A |
G |
4: 155,544,472 (GRCm39) |
T1034A |
unknown |
Het |
| Cldnd1 |
T |
G |
16: 58,549,322 (GRCm39) |
|
probably null |
Het |
| Clec4f |
C |
A |
6: 83,630,190 (GRCm39) |
V123L |
probably benign |
Het |
| Cntn6 |
C |
T |
6: 104,627,491 (GRCm39) |
T108I |
probably damaging |
Het |
| Crygn |
T |
G |
5: 24,961,147 (GRCm39) |
D53A |
possibly damaging |
Het |
| Cyp27a1 |
T |
A |
1: 74,774,594 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,597,708 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,605,195 (GRCm39) |
V1061A |
possibly damaging |
Het |
| Dnah12 |
G |
T |
14: 26,488,534 (GRCm39) |
|
probably null |
Het |
| Draxin |
T |
C |
4: 148,197,216 (GRCm39) |
T194A |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,846,285 (GRCm39) |
D473E |
possibly damaging |
Het |
| Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,562 (GRCm39) |
C446S |
probably benign |
Het |
| Gm29106 |
C |
T |
1: 118,104,642 (GRCm39) |
S3L |
unknown |
Het |
| Grin3a |
T |
C |
4: 49,702,762 (GRCm39) |
Y908C |
probably damaging |
Het |
| Ints2 |
G |
A |
11: 86,108,668 (GRCm39) |
A893V |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,602,767 (GRCm39) |
T371I |
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,260,316 (GRCm39) |
C83S |
probably damaging |
Het |
| Jph3 |
C |
T |
8: 122,480,441 (GRCm39) |
A373V |
probably benign |
Het |
| Kcnj6 |
C |
T |
16: 94,634,073 (GRCm39) |
V13I |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,640,097 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,121,640 (GRCm39) |
Q235L |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,071,189 (GRCm39) |
|
probably null |
Het |
| Mfsd6l |
A |
T |
11: 68,448,109 (GRCm39) |
Y320F |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,335,676 (GRCm39) |
W1440R |
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,863 (GRCm39) |
G19D |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,444,756 (GRCm39) |
H566R |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,201,521 (GRCm39) |
L176P |
possibly damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,599 (GRCm39) |
C139S |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,394,022 (GRCm39) |
D644G |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,042,816 (GRCm39) |
C1027S |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,265 (GRCm39) |
I235V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,314,230 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or14n1-ps1 |
A |
T |
7: 86,092,328 (GRCm39) |
L46F |
unknown |
Het |
| Or8g51 |
A |
G |
9: 38,609,161 (GRCm39) |
V167A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,431 (GRCm39) |
D96G |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,839,852 (GRCm39) |
Y520C |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,212,463 (GRCm39) |
Y1955N |
|
Het |
| Pnma8a |
A |
G |
7: 16,695,315 (GRCm39) |
K390R |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,227,537 (GRCm39) |
Q47H |
probably damaging |
Het |
| Psg22 |
T |
A |
7: 18,453,499 (GRCm39) |
F104I |
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,322 (GRCm39) |
E1738G |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,500,365 (GRCm39) |
L218Q |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,583,024 (GRCm39) |
I798T |
probably damaging |
Het |
| Rgs5 |
G |
T |
1: 169,483,149 (GRCm39) |
M1I |
probably null |
Het |
| Rhbdl2 |
T |
C |
4: 123,711,659 (GRCm39) |
V132A |
possibly damaging |
Het |
| Rmi1 |
T |
A |
13: 58,557,393 (GRCm39) |
Y547* |
probably null |
Het |
| Rptn |
A |
T |
3: 93,304,212 (GRCm39) |
D515V |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,898,033 (GRCm39) |
N505D |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,948,164 (GRCm39) |
D539G |
probably damaging |
Het |
| Scube3 |
A |
T |
17: 28,387,156 (GRCm39) |
I885F |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,506,696 (GRCm39) |
I247V |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,904,828 (GRCm39) |
I62V |
probably benign |
Het |
| Slc4a11 |
T |
A |
2: 130,527,452 (GRCm39) |
N648Y |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,397,448 (GRCm39) |
V88A |
possibly damaging |
Het |
| Slc7a8 |
A |
C |
14: 54,964,263 (GRCm39) |
F397V |
possibly damaging |
Het |
| Sox12 |
A |
C |
2: 152,239,377 (GRCm39) |
L81R |
probably damaging |
Het |
| St8sia3 |
G |
A |
18: 64,402,987 (GRCm39) |
V265I |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,684,874 (GRCm39) |
S509P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,108,323 (GRCm39) |
Y1129C |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,523,333 (GRCm39) |
R1625L |
probably benign |
Het |
| Tlr4 |
T |
C |
4: 66,758,191 (GRCm39) |
F328S |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,868,164 (GRCm39) |
T215A |
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,718,504 (GRCm39) |
I62L |
probably benign |
Het |
| Trpm5 |
C |
T |
7: 142,642,756 (GRCm39) |
A64T |
probably benign |
Het |
| Txk |
A |
C |
5: 72,889,109 (GRCm39) |
Y148* |
probably null |
Het |
| Uba5 |
C |
T |
9: 103,932,454 (GRCm39) |
G170R |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,323,587 (GRCm39) |
D231E |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 121,077,993 (GRCm39) |
D525E |
probably benign |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,649 (GRCm39) |
T187S |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,605 (GRCm39) |
M303K |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,356,044 (GRCm39) |
F454S |
probably benign |
Het |
| Zbp1 |
A |
T |
2: 173,060,546 (GRCm39) |
L8* |
probably null |
Het |
| Zmym2 |
A |
T |
14: 57,181,557 (GRCm39) |
D924V |
probably benign |
Het |
|
| Other mutations in Spg11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Spg11
|
APN |
2 |
121,896,041 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00495:Spg11
|
APN |
2 |
121,924,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00757:Spg11
|
APN |
2 |
121,901,440 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01304:Spg11
|
APN |
2 |
121,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01355:Spg11
|
APN |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
|
IGL01626:Spg11
|
APN |
2 |
121,891,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01739:Spg11
|
APN |
2 |
121,945,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Spg11
|
APN |
2 |
121,918,705 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02129:Spg11
|
APN |
2 |
121,926,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02178:Spg11
|
APN |
2 |
121,927,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02199:Spg11
|
APN |
2 |
121,890,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Spg11
|
APN |
2 |
121,938,638 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02605:Spg11
|
APN |
2 |
121,922,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02635:Spg11
|
APN |
2 |
121,943,549 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02743:Spg11
|
APN |
2 |
121,889,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02822:Spg11
|
APN |
2 |
121,905,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02992:Spg11
|
APN |
2 |
121,888,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Spg11
|
APN |
2 |
121,918,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
3-1:Spg11
|
UTSW |
2 |
121,917,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4354001:Spg11
|
UTSW |
2 |
121,918,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0131:Spg11
|
UTSW |
2 |
121,901,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0208:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0302:Spg11
|
UTSW |
2 |
121,922,668 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0347:Spg11
|
UTSW |
2 |
121,927,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0357:Spg11
|
UTSW |
2 |
121,896,713 (GRCm39) |
splice site |
probably benign |
|
|
R0372:Spg11
|
UTSW |
2 |
121,889,928 (GRCm39) |
frame shift |
probably null |
|
|
R0715:Spg11
|
UTSW |
2 |
121,915,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0927:Spg11
|
UTSW |
2 |
121,924,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1163:Spg11
|
UTSW |
2 |
121,901,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Spg11
|
UTSW |
2 |
121,922,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Spg11
|
UTSW |
2 |
121,927,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1569:Spg11
|
UTSW |
2 |
121,932,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Spg11
|
UTSW |
2 |
121,932,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Spg11
|
UTSW |
2 |
121,890,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Spg11
|
UTSW |
2 |
121,938,788 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2303:Spg11
|
UTSW |
2 |
121,899,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2510:Spg11
|
UTSW |
2 |
121,905,791 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2760:Spg11
|
UTSW |
2 |
121,927,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2918:Spg11
|
UTSW |
2 |
121,905,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3195:Spg11
|
UTSW |
2 |
121,913,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3423:Spg11
|
UTSW |
2 |
121,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4353:Spg11
|
UTSW |
2 |
121,943,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4407:Spg11
|
UTSW |
2 |
121,905,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4644:Spg11
|
UTSW |
2 |
121,891,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4663:Spg11
|
UTSW |
2 |
121,928,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4684:Spg11
|
UTSW |
2 |
121,895,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Spg11
|
UTSW |
2 |
121,895,963 (GRCm39) |
nonsense |
probably null |
|
|
R4810:Spg11
|
UTSW |
2 |
121,890,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Spg11
|
UTSW |
2 |
121,938,936 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5089:Spg11
|
UTSW |
2 |
121,945,198 (GRCm39) |
nonsense |
probably null |
|
|
R5362:Spg11
|
UTSW |
2 |
121,891,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5684:Spg11
|
UTSW |
2 |
121,923,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Spg11
|
UTSW |
2 |
121,928,680 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5923:Spg11
|
UTSW |
2 |
121,923,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6052:Spg11
|
UTSW |
2 |
121,927,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6111:Spg11
|
UTSW |
2 |
121,923,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6174:Spg11
|
UTSW |
2 |
121,917,286 (GRCm39) |
splice site |
probably null |
|
|
R6226:Spg11
|
UTSW |
2 |
121,918,743 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6336:Spg11
|
UTSW |
2 |
121,943,440 (GRCm39) |
splice site |
probably null |
|
|
R6480:Spg11
|
UTSW |
2 |
121,922,786 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6494:Spg11
|
UTSW |
2 |
121,943,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6582:Spg11
|
UTSW |
2 |
121,922,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6714:Spg11
|
UTSW |
2 |
121,926,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6791:Spg11
|
UTSW |
2 |
121,923,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6836:Spg11
|
UTSW |
2 |
121,890,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Spg11
|
UTSW |
2 |
121,900,385 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7179:Spg11
|
UTSW |
2 |
121,932,270 (GRCm39) |
splice site |
probably null |
|
|
R7229:Spg11
|
UTSW |
2 |
121,938,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7338:Spg11
|
UTSW |
2 |
121,885,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Spg11
|
UTSW |
2 |
121,900,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7378:Spg11
|
UTSW |
2 |
121,888,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Spg11
|
UTSW |
2 |
121,924,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7505:Spg11
|
UTSW |
2 |
121,905,832 (GRCm39) |
nonsense |
probably null |
|
|
R7665:Spg11
|
UTSW |
2 |
121,896,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Spg11
|
UTSW |
2 |
121,899,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7779:Spg11
|
UTSW |
2 |
121,901,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Spg11
|
UTSW |
2 |
121,922,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7958:Spg11
|
UTSW |
2 |
121,923,426 (GRCm39) |
splice site |
probably null |
|
|
R8024:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8033:Spg11
|
UTSW |
2 |
121,917,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8069:Spg11
|
UTSW |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
|
R8121:Spg11
|
UTSW |
2 |
121,900,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8252:Spg11
|
UTSW |
2 |
121,918,820 (GRCm39) |
splice site |
probably benign |
|
|
R8358:Spg11
|
UTSW |
2 |
121,910,739 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8362:Spg11
|
UTSW |
2 |
121,948,842 (GRCm39) |
missense |
unknown |
|
|
R8385:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8406:Spg11
|
UTSW |
2 |
121,923,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8480:Spg11
|
UTSW |
2 |
121,943,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Spg11
|
UTSW |
2 |
121,901,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8883:Spg11
|
UTSW |
2 |
121,943,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Spg11
|
UTSW |
2 |
121,922,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Spg11
|
UTSW |
2 |
121,900,413 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9059:Spg11
|
UTSW |
2 |
121,918,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9296:Spg11
|
UTSW |
2 |
121,945,175 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9333:Spg11
|
UTSW |
2 |
121,932,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Spg11
|
UTSW |
2 |
121,910,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Spg11
|
UTSW |
2 |
121,938,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Spg11
|
UTSW |
2 |
121,903,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGATTCTCTGTGCTGAG -3'
(R):5'- CCTTTTGCCTGCAGGATAGG -3'
Sequencing Primer
(F):5'- CTCTGTGCTGAGTTTAAAACCAACC -3'
(R):5'- TTTATGAAGGTGAATCCCCCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation