Incidental Mutation 'R8884:Sipa1l1'
| ID |
677188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
068690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 82409871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 595
(V595G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053969
AA Change: V595G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: V595G
| 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: V595G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: V595G
| 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: V595G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222298
AA Change: V595G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222714
AA Change: V595G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,354 (GRCm39) |
F168Y |
probably damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,737 (GRCm39) |
Y133C |
probably damaging |
Het |
| Aasdh |
A |
G |
5: 77,039,641 (GRCm39) |
S223P |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,964,941 (GRCm39) |
D453G |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,236,728 (GRCm39) |
F541I |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,860,110 (GRCm39) |
K326* |
probably null |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,541 (GRCm39) |
N448S |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,355 (GRCm39) |
K118E |
possibly damaging |
Het |
| Atp9b |
T |
A |
18: 80,838,562 (GRCm39) |
T451S |
|
Het |
| B4galt6 |
A |
T |
18: 20,822,072 (GRCm39) |
N307K |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,042,981 (GRCm39) |
M1569I |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,478,984 (GRCm39) |
T121I |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,744,467 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,027,860 (GRCm39) |
D535V |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,946 (GRCm39) |
F228L |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,719,757 (GRCm39) |
D404E |
probably benign |
Het |
| Commd8 |
G |
A |
5: 72,325,514 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,615 (GRCm39) |
Q337L |
possibly damaging |
Het |
| Dctn6 |
T |
C |
8: 34,557,933 (GRCm39) |
T180A |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,447,553 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,856,884 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,556,550 (GRCm39) |
I469T |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,115,052 (GRCm39) |
I240N |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,280 (GRCm39) |
T1337I |
probably damaging |
Het |
| Fbxw13 |
T |
A |
9: 109,010,469 (GRCm39) |
M390L |
probably benign |
Het |
| Fgr |
C |
T |
4: 132,713,609 (GRCm39) |
P46S |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,400,641 (GRCm39) |
M249K |
probably benign |
Het |
| Gm40460 |
A |
T |
7: 141,794,555 (GRCm39) |
C87* |
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,760,705 (GRCm39) |
R417C |
unknown |
Het |
| Insr |
T |
C |
8: 3,205,679 (GRCm39) |
N1370S |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,414,089 (GRCm39) |
E722K |
|
Het |
| Larp6 |
G |
A |
9: 60,620,682 (GRCm39) |
G65E |
|
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc16 |
G |
A |
9: 18,555,496 (GRCm39) |
T3599I |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,156 (GRCm39) |
F706L |
unknown |
Het |
| Nbea |
A |
T |
3: 55,712,720 (GRCm39) |
M2119K |
probably benign |
Het |
| Or13a18 |
C |
T |
7: 140,190,616 (GRCm39) |
P171L |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,224 (GRCm39) |
T53S |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,574,553 (GRCm39) |
V83I |
probably damaging |
Het |
| Pdcd1lg2 |
G |
T |
19: 29,423,318 (GRCm39) |
|
probably null |
Het |
| Pde7a |
G |
A |
3: 19,281,858 (GRCm39) |
A464V |
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,213 (GRCm39) |
F155L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,936,513 (GRCm39) |
D192G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,282,193 (GRCm39) |
D320G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,980,730 (GRCm39) |
V98A |
probably benign |
Het |
| Ric3 |
C |
T |
7: 108,637,688 (GRCm39) |
G356D |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,781,840 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,622,910 (GRCm39) |
T214A |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,119,486 (GRCm39) |
H4508L |
probably damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,254 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,836,989 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,181,822 (GRCm39) |
Q4171P |
possibly damaging |
Het |
| Tgfb2 |
G |
A |
1: 186,364,907 (GRCm39) |
T232I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,794,327 (GRCm39) |
S486G |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,657 (GRCm39) |
V466A |
probably benign |
Het |
| Treh |
C |
G |
9: 44,595,800 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,696 (GRCm39) |
S8G |
unknown |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,458 (GRCm39) |
L68P |
probably damaging |
Het |
| Vmn2r37 |
T |
G |
7: 9,218,916 (GRCm39) |
L489F |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,734 (GRCm39) |
T802S |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,769 (GRCm39) |
F68I |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,236,924 (GRCm39) |
V113A |
probably benign |
Het |
| Zfp354a |
A |
T |
11: 50,950,805 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- AAGCCTCAGCATAGCCCTTG -3'
(R):5'- ATTGCATGTGCCAGTGACC -3'
Sequencing Primer
(F):5'- GTCTCTCTTGTAGCTCATGACG -3'
(R):5'- AGCCCTCTATCAGCTTTGTTATAGAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation