Incidental Mutation 'R5240:Sipa1l1'
| ID |
400757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
042811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82388362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 196
(Y196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053969
AA Change: Y196C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: Y196C
| 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 |
possibly damaging
Transcript: ENSMUST00000166429
AA Change: Y196C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: Y196C
| 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 |
noncoding transcript
Transcript: ENSMUST00000220766
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220963
AA Change: Y196C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222298
AA Change: Y196C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222714
AA Change: Y196C
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
C |
3: 59,659,449 (GRCm39) |
T301P |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,365,929 (GRCm39) |
L786R |
probably damaging |
Het |
| Cfap73 |
C |
T |
5: 120,767,772 (GRCm39) |
V260I |
probably damaging |
Het |
| Chchd10 |
A |
T |
10: 75,773,283 (GRCm39) |
N131I |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,197,680 (GRCm39) |
V190A |
probably benign |
Het |
| Clec2l |
C |
T |
6: 38,650,387 (GRCm39) |
T64I |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,151,915 (GRCm39) |
T154S |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,061,960 (GRCm39) |
E643G |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,736,042 (GRCm39) |
M127V |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,990,615 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dgke |
T |
A |
11: 88,941,511 (GRCm39) |
D288V |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,247,639 (GRCm39) |
L1683* |
probably null |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| E130116L18Rik |
G |
T |
5: 25,428,018 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
G |
A |
16: 20,320,148 (GRCm39) |
V115I |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fgfr3 |
A |
T |
5: 33,887,382 (GRCm39) |
T234S |
probably damaging |
Het |
| Gipc2 |
A |
T |
3: 151,808,299 (GRCm39) |
D251E |
possibly damaging |
Het |
| Gm11787 |
A |
C |
4: 3,511,810 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
A |
G |
4: 86,501,415 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Homez |
G |
A |
14: 55,095,531 (GRCm39) |
A59V |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,129,423 (GRCm39) |
V363A |
probably benign |
Het |
| Ifit2 |
T |
A |
19: 34,551,796 (GRCm39) |
D445E |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,317,344 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,640 (GRCm39) |
G216R |
probably damaging |
Het |
| Kdm6b |
A |
C |
11: 69,292,730 (GRCm39) |
|
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,304 (GRCm39) |
S79P |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,776 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
A |
T |
2: 75,506,353 (GRCm39) |
N582K |
possibly damaging |
Het |
| Nsmce4a |
G |
A |
7: 130,138,754 (GRCm39) |
R297C |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,632 (GRCm39) |
L66P |
probably damaging |
Het |
| Or3a1d |
T |
A |
11: 74,238,068 (GRCm39) |
D114V |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,909 (GRCm39) |
D194V |
probably damaging |
Het |
| Osbp |
T |
A |
19: 11,955,654 (GRCm39) |
F357I |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,979 (GRCm39) |
D763G |
possibly damaging |
Het |
| Pcdhgb2 |
A |
C |
18: 37,824,103 (GRCm39) |
I365L |
possibly damaging |
Het |
| Pde6g |
A |
G |
11: 120,338,912 (GRCm39) |
|
probably benign |
Het |
| Pigo |
C |
A |
4: 43,020,675 (GRCm39) |
V756L |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,345,865 (GRCm39) |
T2721K |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,658,675 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,519,397 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,589,711 (GRCm39) |
I471N |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,096,408 (GRCm39) |
T593I |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,963,335 (GRCm39) |
|
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,051 (GRCm39) |
D107E |
probably damaging |
Het |
| Pycr2 |
A |
C |
1: 180,735,188 (GRCm39) |
Q315P |
probably benign |
Het |
| Rbpj |
A |
T |
5: 53,806,782 (GRCm39) |
Y209F |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,544,967 (GRCm39) |
R560L |
probably damaging |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,021 (GRCm39) |
R207G |
probably benign |
Het |
| Smarcc2 |
T |
C |
10: 128,316,875 (GRCm39) |
|
probably null |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,695,925 (GRCm39) |
L299F |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,567,516 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
T |
14: 30,287,635 (GRCm39) |
G210C |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,771,854 (GRCm39) |
I98T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,419 (GRCm39) |
I466T |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,010 (GRCm39) |
F599L |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,604,122 (GRCm39) |
E151K |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,840,651 (GRCm39) |
D1631A |
probably benign |
Het |
| Vmn2r4 |
A |
C |
3: 64,314,358 (GRCm39) |
S208A |
possibly damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,642 (GRCm39) |
T891A |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,527 (GRCm39) |
|
probably benign |
Het |
| Znhit1 |
T |
A |
5: 137,011,235 (GRCm39) |
|
probably null |
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 |
|
IGL02496:Sipa1l1
|
APN |
12 |
82,471,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATTCCAATGACTCAGCCATG -3'
(R):5'- GGAGAAACCAGAACCCTTGC -3'
Sequencing Primer
(F):5'- TGAAGAGCATACAGAACACCCTG -3'
(R):5'- TTGCCCCCACCAGTGATGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation