Incidental Mutation 'R9631:Sipa1l1'
ID |
725520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sipa1l1
|
Ensembl Gene |
ENSMUSG00000042700 |
Gene Name |
signal-induced proliferation-associated 1 like 1 |
Synonyms |
Spar, 4931426N11Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9631 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 82387776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
AlphaFold |
Q8C0T5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053969
AA Change: M1V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000061014 Gene: ENSMUSG00000042700 AA Change: M1V
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 null
Transcript: ENSMUST00000166429
AA Change: M1V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131030 Gene: ENSMUSG00000042700 AA Change: M1V
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 null
Transcript: ENSMUST00000220963
AA Change: M1V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222298
AA Change: M1V
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222714
AA Change: M1V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atl3 |
A |
G |
19: 7,509,553 (GRCm39) |
N427S |
probably benign |
Het |
Bcar3 |
T |
A |
3: 122,301,801 (GRCm39) |
D165E |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,822,435 (GRCm39) |
I437T |
probably benign |
Het |
Bspry |
T |
C |
4: 62,400,955 (GRCm39) |
|
probably null |
Het |
Camkv |
G |
T |
9: 107,822,990 (GRCm39) |
V77L |
probably benign |
Het |
Capn15 |
A |
T |
17: 26,182,409 (GRCm39) |
D566E |
probably damaging |
Het |
Ccar2 |
A |
G |
14: 70,389,344 (GRCm39) |
V76A |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,142 (GRCm39) |
C516R |
probably benign |
Het |
Ccdc92b |
T |
A |
11: 74,520,845 (GRCm39) |
V49E |
|
Het |
Ccr7 |
A |
G |
11: 99,036,616 (GRCm39) |
V102A |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,243,168 (GRCm39) |
V1069E |
possibly damaging |
Het |
Cimip2c |
A |
G |
5: 30,639,529 (GRCm39) |
D152G |
|
Het |
Clpb |
T |
G |
7: 101,434,605 (GRCm39) |
V467G |
possibly damaging |
Het |
Crebzf |
T |
A |
7: 90,093,013 (GRCm39) |
L264Q |
probably damaging |
Het |
Ctif |
A |
G |
18: 75,605,025 (GRCm39) |
F505L |
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,529,522 (GRCm39) |
I283T |
probably benign |
Het |
Ddx39a |
C |
A |
8: 84,447,729 (GRCm39) |
H191Q |
possibly damaging |
Het |
Dnajc9 |
A |
T |
14: 20,438,670 (GRCm39) |
|
probably null |
Het |
Dock7 |
A |
G |
4: 98,854,560 (GRCm39) |
L1568P |
unknown |
Het |
Dpp10 |
T |
C |
1: 123,269,432 (GRCm39) |
Y659C |
probably damaging |
Het |
Eef1akmt3 |
A |
G |
10: 126,877,161 (GRCm39) |
F35L |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,666,749 (GRCm39) |
N52I |
probably benign |
Het |
F5 |
T |
A |
1: 164,014,423 (GRCm39) |
C565S |
probably damaging |
Het |
Fam170b |
T |
C |
14: 32,557,641 (GRCm39) |
S159P |
probably damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,757 (GRCm39) |
I152T |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,625,387 (GRCm39) |
D2473G |
probably benign |
Het |
Fzd2 |
C |
A |
11: 102,496,916 (GRCm39) |
D453E |
probably benign |
Het |
Grm5 |
T |
C |
7: 87,624,560 (GRCm39) |
Y376H |
probably damaging |
Het |
H2-Q6 |
T |
A |
17: 35,644,292 (GRCm39) |
H91Q |
probably benign |
Het |
Hspa4 |
A |
T |
11: 53,160,582 (GRCm39) |
V498E |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,237,904 (GRCm39) |
L759H |
probably damaging |
Het |
Jph1 |
T |
C |
1: 17,161,607 (GRCm39) |
T352A |
probably damaging |
Het |
Kit |
C |
T |
5: 75,767,689 (GRCm39) |
T24M |
possibly damaging |
Het |
Krtap28-13 |
T |
G |
1: 83,038,897 (GRCm39) |
C61G |
unknown |
Het |
Lgr5 |
T |
A |
10: 115,302,513 (GRCm39) |
I293F |
probably damaging |
Het |
Lyzl4 |
GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG |
GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG |
9: 121,413,055 (GRCm39) |
|
probably null |
Het |
Mccc1 |
C |
A |
3: 36,014,185 (GRCm39) |
E711* |
probably null |
Het |
Mroh2b |
C |
T |
15: 4,946,556 (GRCm39) |
T452I |
probably damaging |
Het |
Ms4a10 |
G |
A |
19: 10,944,451 (GRCm39) |
T111I |
probably damaging |
Het |
Myh11 |
A |
T |
16: 14,025,441 (GRCm39) |
V1443E |
|
Het |
Oc90 |
A |
G |
15: 65,769,629 (GRCm39) |
L76P |
probably damaging |
Het |
Or10d3 |
G |
A |
9: 39,461,508 (GRCm39) |
R220* |
probably null |
Het |
Or4c118 |
T |
C |
2: 88,975,522 (GRCm39) |
|
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,791,377 (GRCm39) |
F14L |
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,775,607 (GRCm39) |
I290N |
probably damaging |
Het |
Or5b97 |
A |
G |
19: 12,878,502 (GRCm39) |
V214A |
possibly damaging |
Het |
Or8b57 |
A |
G |
9: 40,004,223 (GRCm39) |
V13A |
probably damaging |
Het |
Or8c10 |
G |
A |
9: 38,279,714 (GRCm39) |
V281M |
possibly damaging |
Het |
Or8g52 |
A |
T |
9: 39,631,161 (GRCm39) |
T213S |
possibly damaging |
Het |
Pgr |
C |
A |
9: 8,900,847 (GRCm39) |
Q127K |
probably benign |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
C |
T |
5: 65,429,851 (GRCm39) |
V852M |
probably damaging |
Het |
Rin2 |
T |
A |
2: 145,718,437 (GRCm39) |
L639H |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,292 (GRCm39) |
W377R |
probably damaging |
Het |
Senp7 |
T |
C |
16: 55,975,631 (GRCm39) |
S446P |
probably benign |
Het |
Slc25a36 |
A |
C |
9: 96,982,153 (GRCm39) |
S61A |
probably benign |
Het |
Sptbn2 |
C |
T |
19: 4,788,218 (GRCm39) |
R1066W |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,977,810 (GRCm39) |
S50G |
probably benign |
Het |
Thada |
T |
C |
17: 84,538,584 (GRCm39) |
S1475G |
probably benign |
Het |
Tln1 |
G |
A |
4: 43,545,694 (GRCm39) |
A928V |
probably damaging |
Het |
Trip11 |
G |
A |
12: 101,859,807 (GRCm39) |
L357F |
probably benign |
Het |
Ttc3 |
G |
T |
16: 94,171,581 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
Vmn1r237 |
A |
T |
17: 21,534,660 (GRCm39) |
I128F |
probably benign |
Het |
Vmn2r50 |
A |
T |
7: 9,786,990 (GRCm39) |
L39* |
probably null |
Het |
Vps4b |
A |
G |
1: 106,707,835 (GRCm39) |
V216A |
possibly damaging |
Het |
Zfp217 |
T |
C |
2: 169,956,790 (GRCm39) |
N736S |
possibly damaging |
Het |
Zfp985 |
A |
G |
4: 147,665,742 (GRCm39) |
E25G |
probably damaging |
Het |
Zfr |
C |
T |
15: 12,154,628 (GRCm39) |
R604* |
probably null |
Het |
Zscan18 |
A |
G |
7: 12,505,657 (GRCm39) |
S577P |
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 |
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 |
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 |
|
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'- CTCTGTCGTCTGCAAACAAGG -3'
(R):5'- GGCCAATCTGCTATTCTTGC -3'
Sequencing Primer
(F):5'- GTCTGCAAACAAGGCATCATTTAAC -3'
(R):5'- TGAGGGCCTTCACTTCGAG -3'
|
Posted On |
2022-09-12 |