Incidental Mutation 'IGL02496:Sipa1l1'
ID |
295833 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sipa1l1
|
Ensembl Gene |
ENSMUSG00000042700 |
Gene Name |
signal-induced proliferation-associated 1 like 1 |
Synonyms |
Spar, 4931426N11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02496
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 82471868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1283
(Y1283N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
AlphaFold |
Q8C0T5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053969
AA Change: Y1283N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061014 Gene: ENSMUSG00000042700 AA Change: Y1283N
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
Pfam:Rap_GAP
|
628 |
810 |
8.9e-70 |
PFAM |
PDZ
|
962 |
1028 |
2.63e-9 |
SMART |
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
Pfam:SPAR_C
|
1483 |
1727 |
4.4e-86 |
PFAM |
low complexity region
|
1731 |
1746 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166429
AA Change: Y1283N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131030 Gene: ENSMUSG00000042700 AA Change: Y1283N
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
Pfam:Rap_GAP
|
628 |
816 |
1.3e-64 |
PFAM |
PDZ
|
962 |
1028 |
1.3e-11 |
SMART |
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
Pfam:DUF3401
|
1483 |
1727 |
1.8e-91 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220963
AA Change: Y1283N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221169
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222298
AA Change: Y1283N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222714
AA Change: Y1283N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
G |
1: 71,327,712 (GRCm39) |
H1456P |
possibly damaging |
Het |
Abcg1 |
C |
A |
17: 31,324,578 (GRCm39) |
H274Q |
probably damaging |
Het |
Adamts4 |
G |
A |
1: 171,078,512 (GRCm39) |
R44Q |
probably benign |
Het |
Amigo2 |
A |
T |
15: 97,143,494 (GRCm39) |
C309* |
probably null |
Het |
Ccdc88c |
A |
C |
12: 100,919,552 (GRCm39) |
S446A |
probably benign |
Het |
Cd9 |
A |
T |
6: 125,449,458 (GRCm39) |
V28E |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,678,163 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
C |
T |
5: 87,825,453 (GRCm39) |
|
probably benign |
Het |
Cul9 |
G |
T |
17: 46,851,302 (GRCm39) |
R373S |
possibly damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,126,640 (GRCm39) |
H1457N |
probably damaging |
Het |
Dennd2b |
C |
A |
7: 109,155,442 (GRCm39) |
R436L |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,920,189 (GRCm39) |
S2235P |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fbxo10 |
A |
T |
4: 45,043,883 (GRCm39) |
W647R |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,930,919 (GRCm38) |
|
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,684 (GRCm39) |
V301L |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,049,627 (GRCm39) |
S445G |
probably benign |
Het |
Hif3a |
A |
G |
7: 16,773,603 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,288,220 (GRCm39) |
Y217H |
probably damaging |
Het |
Iba57 |
T |
C |
11: 59,049,772 (GRCm39) |
T192A |
probably benign |
Het |
Igkv5-48 |
A |
T |
6: 69,703,671 (GRCm39) |
I78N |
probably damaging |
Het |
Inhbe |
A |
T |
10: 127,186,797 (GRCm39) |
W128R |
probably damaging |
Het |
Ism1 |
T |
C |
2: 139,599,121 (GRCm39) |
C365R |
probably damaging |
Het |
Kif19a |
A |
T |
11: 114,670,470 (GRCm39) |
T127S |
probably damaging |
Het |
Kmt2d |
C |
A |
15: 98,755,439 (GRCm39) |
|
probably benign |
Het |
Mmp20 |
A |
G |
9: 7,654,042 (GRCm39) |
R321G |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,977,854 (GRCm39) |
M76T |
possibly damaging |
Het |
Nme9 |
T |
C |
9: 99,351,684 (GRCm39) |
C223R |
probably damaging |
Het |
Nucb1 |
G |
T |
7: 45,144,467 (GRCm39) |
|
probably benign |
Het |
Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
Or13a18 |
A |
C |
7: 140,190,081 (GRCm39) |
M1L |
probably benign |
Het |
Or5b98 |
T |
A |
19: 12,931,556 (GRCm39) |
I201N |
possibly damaging |
Het |
Or6b1 |
A |
C |
6: 42,815,738 (GRCm39) |
I308L |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,206,824 (GRCm39) |
|
probably null |
Het |
Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,507 (GRCm39) |
D476G |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,535 (GRCm39) |
E1685G |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,147 (GRCm39) |
L714Q |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,171,716 (GRCm39) |
I103V |
probably benign |
Het |
Plscr3 |
C |
A |
11: 69,738,209 (GRCm39) |
|
probably benign |
Het |
Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
Prr36 |
C |
A |
8: 4,266,407 (GRCm39) |
E48* |
probably null |
Het |
Ptgir |
G |
A |
7: 16,641,409 (GRCm39) |
V234I |
possibly damaging |
Het |
Ptk7 |
A |
T |
17: 46,901,070 (GRCm39) |
V219E |
probably benign |
Het |
Rab39b |
T |
A |
X: 74,618,609 (GRCm39) |
I74F |
probably damaging |
Het |
Rasal2 |
A |
T |
1: 156,977,449 (GRCm39) |
M1075K |
possibly damaging |
Het |
Rpl37a |
G |
A |
1: 72,750,885 (GRCm39) |
A20T |
probably null |
Het |
Serpinb10 |
A |
C |
1: 107,466,155 (GRCm39) |
|
probably null |
Het |
Slc22a23 |
T |
A |
13: 34,528,468 (GRCm39) |
I105F |
possibly damaging |
Het |
Slc25a20 |
T |
A |
9: 108,559,599 (GRCm39) |
I221N |
probably damaging |
Het |
Smarcal1 |
A |
T |
1: 72,659,247 (GRCm39) |
H691L |
probably damaging |
Het |
Smo |
A |
C |
6: 29,758,480 (GRCm39) |
T542P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,071,329 (GRCm39) |
I51N |
probably damaging |
Het |
Spon1 |
G |
T |
7: 113,635,897 (GRCm39) |
V704L |
probably benign |
Het |
Tex9 |
T |
A |
9: 72,389,774 (GRCm39) |
Q112L |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,919,486 (GRCm39) |
E580G |
probably benign |
Het |
Top2b |
T |
A |
14: 16,387,335 (GRCm38) |
V141E |
probably benign |
Het |
Trhde |
A |
T |
10: 114,636,466 (GRCm39) |
L247* |
probably null |
Het |
Umodl1 |
G |
T |
17: 31,217,628 (GRCm39) |
V1145F |
probably damaging |
Het |
Vasp |
C |
A |
7: 18,992,748 (GRCm39) |
|
probably benign |
Het |
Vmn1r8 |
G |
T |
6: 57,013,556 (GRCm39) |
L202F |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,787,837 (GRCm39) |
T505A |
probably benign |
Het |
Wdr27 |
A |
G |
17: 15,112,693 (GRCm39) |
|
probably benign |
Het |
Wfdc1 |
T |
G |
8: 120,406,909 (GRCm39) |
V109G |
probably damaging |
Het |
Zan |
C |
A |
5: 137,463,056 (GRCm39) |
E708* |
probably null |
Het |
Zbtb1 |
T |
A |
12: 76,432,169 (GRCm39) |
F52I |
possibly damaging |
Het |
Zfp236 |
A |
G |
18: 82,648,117 (GRCm39) |
S1015P |
probably damaging |
Het |
Zfp532 |
T |
C |
18: 65,757,113 (GRCm39) |
S349P |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,889,550 (GRCm39) |
C731S |
possibly damaging |
Het |
|
Other mutations in Sipa1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01309:Sipa1l1
|
APN |
12 |
82,434,470 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01478:Sipa1l1
|
APN |
12 |
82,493,672 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01620:Sipa1l1
|
APN |
12 |
82,469,263 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02550:Sipa1l1
|
APN |
12 |
82,487,723 (GRCm39) |
nonsense |
probably null |
|
IGL02689:Sipa1l1
|
APN |
12 |
82,487,594 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02706:Sipa1l1
|
APN |
12 |
82,444,207 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02995:Sipa1l1
|
APN |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
IGL03104:Sipa1l1
|
APN |
12 |
82,388,904 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03295:Sipa1l1
|
APN |
12 |
82,479,714 (GRCm39) |
missense |
probably damaging |
1.00 |
bullae
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
bullish
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
ebullient
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
PIT4431001:Sipa1l1
|
UTSW |
12 |
82,443,290 (GRCm39) |
missense |
probably benign |
0.34 |
R0140:Sipa1l1
|
UTSW |
12 |
82,442,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Sipa1l1
|
UTSW |
12 |
82,431,530 (GRCm39) |
critical splice donor site |
probably null |
|
R0534:Sipa1l1
|
UTSW |
12 |
82,472,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0538:Sipa1l1
|
UTSW |
12 |
82,471,873 (GRCm39) |
missense |
probably benign |
0.00 |
R0547:Sipa1l1
|
UTSW |
12 |
82,484,510 (GRCm39) |
missense |
probably benign |
|
R0980:Sipa1l1
|
UTSW |
12 |
82,388,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1051:Sipa1l1
|
UTSW |
12 |
82,496,119 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1244:Sipa1l1
|
UTSW |
12 |
82,472,190 (GRCm39) |
missense |
probably benign |
0.00 |
R1473:Sipa1l1
|
UTSW |
12 |
82,387,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1508:Sipa1l1
|
UTSW |
12 |
82,487,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1563:Sipa1l1
|
UTSW |
12 |
82,387,935 (GRCm39) |
missense |
probably benign |
0.31 |
R1671:Sipa1l1
|
UTSW |
12 |
82,444,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1935:Sipa1l1
|
UTSW |
12 |
82,419,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R1950:Sipa1l1
|
UTSW |
12 |
82,388,233 (GRCm39) |
missense |
probably damaging |
0.98 |
R2191:Sipa1l1
|
UTSW |
12 |
82,443,465 (GRCm39) |
nonsense |
probably null |
|
R2249:Sipa1l1
|
UTSW |
12 |
82,388,890 (GRCm39) |
missense |
probably benign |
|
R2909:Sipa1l1
|
UTSW |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
R4012:Sipa1l1
|
UTSW |
12 |
82,388,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4154:Sipa1l1
|
UTSW |
12 |
82,471,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4382:Sipa1l1
|
UTSW |
12 |
82,493,596 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4448:Sipa1l1
|
UTSW |
12 |
82,388,524 (GRCm39) |
missense |
probably benign |
0.15 |
R4651:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
R4652:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
R4751:Sipa1l1
|
UTSW |
12 |
82,387,968 (GRCm39) |
missense |
probably benign |
|
R4755:Sipa1l1
|
UTSW |
12 |
82,419,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4888:Sipa1l1
|
UTSW |
12 |
82,389,107 (GRCm39) |
missense |
probably damaging |
0.96 |
R4912:Sipa1l1
|
UTSW |
12 |
82,443,452 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4937:Sipa1l1
|
UTSW |
12 |
82,388,103 (GRCm39) |
missense |
probably benign |
0.01 |
R5068:Sipa1l1
|
UTSW |
12 |
82,484,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5113:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
R5114:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
R5240:Sipa1l1
|
UTSW |
12 |
82,388,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6041:Sipa1l1
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6048:Sipa1l1
|
UTSW |
12 |
82,487,643 (GRCm39) |
missense |
probably benign |
0.03 |
R6170:Sipa1l1
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
R6185:Sipa1l1
|
UTSW |
12 |
82,471,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Sipa1l1
|
UTSW |
12 |
82,419,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6842:Sipa1l1
|
UTSW |
12 |
82,467,320 (GRCm39) |
missense |
probably benign |
0.00 |
R7008:Sipa1l1
|
UTSW |
12 |
82,409,886 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Sipa1l1
|
UTSW |
12 |
82,449,896 (GRCm39) |
missense |
probably benign |
0.00 |
R7069:Sipa1l1
|
UTSW |
12 |
82,388,180 (GRCm39) |
missense |
probably damaging |
0.99 |
R7122:Sipa1l1
|
UTSW |
12 |
82,469,236 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7310:Sipa1l1
|
UTSW |
12 |
82,419,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Sipa1l1
|
UTSW |
12 |
82,467,438 (GRCm39) |
critical splice donor site |
probably null |
|
R7718:Sipa1l1
|
UTSW |
12 |
82,389,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7787:Sipa1l1
|
UTSW |
12 |
82,496,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7844:Sipa1l1
|
UTSW |
12 |
82,444,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R7893:Sipa1l1
|
UTSW |
12 |
82,388,342 (GRCm39) |
missense |
probably benign |
0.00 |
R7953:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8043:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Sipa1l1
|
UTSW |
12 |
82,480,600 (GRCm39) |
missense |
probably benign |
0.08 |
R8135:Sipa1l1
|
UTSW |
12 |
82,388,075 (GRCm39) |
missense |
probably benign |
|
R8229:Sipa1l1
|
UTSW |
12 |
82,484,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Sipa1l1
|
UTSW |
12 |
82,443,045 (GRCm39) |
missense |
probably benign |
0.13 |
R8388:Sipa1l1
|
UTSW |
12 |
82,216,259 (GRCm39) |
unclassified |
probably benign |
|
R8693:Sipa1l1
|
UTSW |
12 |
82,216,517 (GRCm39) |
unclassified |
probably benign |
|
R8826:Sipa1l1
|
UTSW |
12 |
82,389,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8884:Sipa1l1
|
UTSW |
12 |
82,409,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R8940:Sipa1l1
|
UTSW |
12 |
82,404,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R8975:Sipa1l1
|
UTSW |
12 |
82,479,612 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9145:Sipa1l1
|
UTSW |
12 |
82,443,335 (GRCm39) |
missense |
probably benign |
0.01 |
R9328:Sipa1l1
|
UTSW |
12 |
82,388,792 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9455:Sipa1l1
|
UTSW |
12 |
82,434,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Sipa1l1
|
UTSW |
12 |
82,404,139 (GRCm39) |
critical splice donor site |
probably null |
|
R9631:Sipa1l1
|
UTSW |
12 |
82,387,776 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
R9727:Sipa1l1
|
UTSW |
12 |
82,471,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R9753:Sipa1l1
|
UTSW |
12 |
82,463,763 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2015-04-16 |