Incidental Mutation 'R8348:Sipa1l1'
| ID |
660450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8348 (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 A
at 82443045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 778
(N778K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053969
AA Change: N778K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: N778K
| 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 benign
Transcript: ENSMUST00000166429
AA Change: N778K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: N778K
| 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 benign
Transcript: ENSMUST00000220963
AA Change: N778K
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222298
AA Change: N778K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222714
AA Change: N778K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
A |
G |
7: 37,894,384 (GRCm39) |
Y139C |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,634,514 (GRCm39) |
D43G |
probably damaging |
Het |
| Actn3 |
C |
A |
19: 4,915,361 (GRCm39) |
V464L |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Arhgef28 |
G |
T |
13: 98,190,375 (GRCm39) |
P195T |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,245,854 (GRCm39) |
D107E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,167,507 (GRCm39) |
V1828M |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,704,593 (GRCm39) |
T440A |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,325 (GRCm39) |
A390V |
probably benign |
Het |
| Desi2 |
T |
A |
1: 178,083,906 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,320,273 (GRCm39) |
M3932K |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,955,121 (GRCm39) |
Q2050L |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,423,141 (GRCm39) |
M274K |
probably benign |
Het |
| Farp2 |
G |
T |
1: 93,504,614 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
G |
A |
7: 18,870,469 (GRCm39) |
G363R |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,909 (GRCm39) |
V27A |
probably benign |
Het |
| Fndc3b |
T |
A |
3: 27,494,144 (GRCm39) |
M994L |
probably benign |
Het |
| G3bp1 |
T |
G |
11: 55,389,457 (GRCm39) |
D384E |
possibly damaging |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gle1 |
T |
C |
2: 29,832,556 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Gm3415 |
G |
A |
5: 146,493,407 (GRCm39) |
R84H |
probably benign |
Het |
| Gm7694 |
A |
C |
1: 170,129,209 (GRCm39) |
S107A |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,673,232 (GRCm39) |
D163G |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,251,892 (GRCm39) |
H514Y |
possibly damaging |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,370 (GRCm39) |
E595G |
possibly damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
| Hoxc4 |
T |
C |
15: 102,943,440 (GRCm39) |
C98R |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,329,878 (GRCm39) |
I4871F |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,292,187 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
G |
7: 16,007,055 (GRCm39) |
I54T |
probably damaging |
Het |
| Inpp5b |
G |
A |
4: 124,678,967 (GRCm39) |
G458D |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,054,974 (GRCm39) |
S1153T |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,609 (GRCm39) |
Y77C |
probably damaging |
Het |
| Klhl35 |
C |
A |
7: 99,121,062 (GRCm39) |
D10E |
probably damaging |
Het |
| Lef1 |
A |
T |
3: 130,906,461 (GRCm39) |
M1L |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,678,753 (GRCm39) |
T403A |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,958,531 (GRCm39) |
N518I |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,974 (GRCm39) |
C269R |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,523,919 (GRCm39) |
L81* |
probably null |
Het |
| Mug2 |
A |
T |
6: 122,049,192 (GRCm39) |
K903* |
probably null |
Het |
| Nhsl3 |
G |
A |
4: 129,117,699 (GRCm39) |
R322C |
probably damaging |
Het |
| Pex6 |
T |
C |
17: 47,034,039 (GRCm39) |
S656P |
probably benign |
Het |
| Pgr |
C |
A |
9: 8,922,602 (GRCm39) |
Q591K |
probably benign |
Het |
| Phactr3 |
T |
C |
2: 177,897,935 (GRCm39) |
S50P |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,655 (GRCm39) |
V545A |
possibly damaging |
Het |
| Snf8 |
A |
G |
11: 95,925,877 (GRCm39) |
K13R |
probably benign |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Tacc2 |
A |
C |
7: 130,225,019 (GRCm39) |
K568T |
possibly damaging |
Het |
| Tnxb |
C |
A |
17: 34,929,102 (GRCm39) |
T2715K |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,962,856 (GRCm39) |
I140V |
probably benign |
Het |
| Vmn2r89 |
A |
C |
14: 51,692,548 (GRCm39) |
D117A |
possibly damaging |
Het |
| Vps13c |
C |
T |
9: 67,786,385 (GRCm39) |
T284I |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,906,960 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
T |
A |
5: 113,710,371 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Zfp69 |
A |
T |
4: 120,787,834 (GRCm39) |
C494S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,361 (GRCm39) |
T200A |
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 |
|
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'- AACCCAGAGTCTTGCATGTCTG -3'
(R):5'- CTTCTTCTTGGAGGCCAGAG -3'
Sequencing Primer
(F):5'- ATGTCTGCACTGGACCAGC -3'
(R):5'- CTTCTTGGAGGCCAGAGAAATAAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation