Incidental Mutation 'R7787:Sipa1l1'
ID |
599612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sipa1l1
|
Ensembl Gene |
ENSMUSG00000042700 |
Gene Name |
signal-induced proliferation-associated 1 like 1 |
Synonyms |
Spar, 4931426N11Rik |
MMRRC Submission |
045843-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7787 (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 C
at 82496762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1765
(S1765P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
AlphaFold |
Q8C0T5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053969
AA Change: S1765P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000061014 Gene: ENSMUSG00000042700 AA Change: S1765P
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: S1765P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131030 Gene: ENSMUSG00000042700 AA Change: S1765P
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222298
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222714
AA Change: S1765P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,263,926 (GRCm39) |
I38N |
probably damaging |
Het |
Abcb4 |
G |
A |
5: 8,959,220 (GRCm39) |
V216M |
probably damaging |
Het |
Abcc2 |
G |
A |
19: 43,772,685 (GRCm39) |
V32M |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,471,625 (GRCm39) |
V714F |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,986,679 (GRCm39) |
D2654E |
unknown |
Het |
Ak8 |
T |
A |
2: 28,602,324 (GRCm39) |
I86N |
probably damaging |
Het |
Apob |
G |
A |
12: 8,040,780 (GRCm39) |
R635Q |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,150,700 (GRCm39) |
R1466H |
possibly damaging |
Het |
Bltp1 |
A |
C |
3: 36,939,557 (GRCm39) |
H137P |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,066,866 (GRCm39) |
T252A |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,358,314 (GRCm39) |
I648F |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,917,412 (GRCm39) |
D121G |
probably benign |
Het |
Cc2d1a |
C |
A |
8: 84,860,144 (GRCm39) |
Q904H |
possibly damaging |
Het |
Cd1d1 |
A |
G |
3: 86,904,903 (GRCm39) |
S212P |
probably damaging |
Het |
Cfap69 |
C |
T |
5: 5,639,260 (GRCm39) |
C638Y |
probably damaging |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,659,594 (GRCm39) |
V754A |
probably benign |
Het |
Cnpy4 |
T |
A |
5: 138,190,900 (GRCm39) |
H187Q |
probably benign |
Het |
Cpne5 |
A |
T |
17: 29,407,261 (GRCm39) |
|
probably null |
Het |
Crnkl1 |
A |
T |
2: 145,767,515 (GRCm39) |
N359K |
probably benign |
Het |
Cyb561 |
A |
T |
11: 105,828,466 (GRCm39) |
L63H |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,775,676 (GRCm39) |
T540A |
probably benign |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Fstl5 |
A |
C |
3: 76,337,131 (GRCm39) |
D230A |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Hecw1 |
T |
C |
13: 14,493,494 (GRCm39) |
Q337R |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,632,343 (GRCm39) |
Y865N |
probably damaging |
Het |
Hyal6 |
A |
G |
6: 24,743,735 (GRCm39) |
Y477C |
probably damaging |
Het |
Ifi205 |
C |
T |
1: 173,842,640 (GRCm39) |
G352E |
probably damaging |
Het |
Ifi205 |
T |
A |
1: 173,842,644 (GRCm39) |
S351C |
probably damaging |
Het |
Irak3 |
C |
A |
10: 120,012,256 (GRCm39) |
Q169H |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,453,499 (GRCm39) |
N99K |
probably benign |
Het |
Kng2 |
A |
G |
16: 22,818,598 (GRCm39) |
F298S |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,192,380 (GRCm39) |
E256G |
|
Het |
Lamc3 |
T |
C |
2: 31,790,551 (GRCm39) |
I257T |
probably damaging |
Het |
Mas1 |
A |
C |
17: 13,061,374 (GRCm39) |
N16K |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,741,794 (GRCm39) |
L3855Q |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Mybph |
G |
A |
1: 134,125,246 (GRCm39) |
G258D |
probably benign |
Het |
Mycbp2 |
A |
C |
14: 103,364,533 (GRCm39) |
H4358Q |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,552,208 (GRCm39) |
D1012G |
unknown |
Het |
Nub1 |
C |
A |
5: 24,913,801 (GRCm39) |
Q561K |
probably benign |
Het |
Nynrin |
A |
G |
14: 56,107,980 (GRCm39) |
N1029S |
probably benign |
Het |
Or52x1 |
A |
T |
7: 104,853,252 (GRCm39) |
C99* |
probably null |
Het |
Or56a4 |
T |
G |
7: 104,806,401 (GRCm39) |
I163L |
probably benign |
Het |
Or5k15 |
A |
G |
16: 58,709,953 (GRCm39) |
F210S |
probably benign |
Het |
Or6e1 |
A |
G |
14: 54,520,169 (GRCm39) |
L61P |
probably damaging |
Het |
Or8g19 |
C |
T |
9: 39,055,548 (GRCm39) |
L51F |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,280,277 (GRCm39) |
Y701N |
possibly damaging |
Het |
Pglyrp4 |
C |
G |
3: 90,640,295 (GRCm39) |
H182D |
probably damaging |
Het |
Phaf1 |
T |
G |
8: 105,957,820 (GRCm39) |
V42G |
probably damaging |
Het |
Pkp4 |
C |
A |
2: 59,152,881 (GRCm39) |
D576E |
probably damaging |
Het |
Plec |
A |
G |
15: 76,083,811 (GRCm39) |
V17A |
unknown |
Het |
Polq |
T |
A |
16: 36,837,671 (GRCm39) |
N194K |
probably damaging |
Het |
Pou4f1 |
A |
T |
14: 104,703,460 (GRCm39) |
M324K |
unknown |
Het |
Ppa2 |
G |
T |
3: 133,036,259 (GRCm39) |
G138W |
probably damaging |
Het |
Prob1 |
A |
T |
18: 35,785,285 (GRCm39) |
F990I |
possibly damaging |
Het |
Proser1 |
T |
A |
3: 53,380,969 (GRCm39) |
I182N |
probably damaging |
Het |
Sgk3 |
T |
C |
1: 9,952,016 (GRCm39) |
L214P |
probably damaging |
Het |
Slc15a2 |
G |
A |
16: 36,572,228 (GRCm39) |
S712L |
probably benign |
Het |
Slc38a9 |
T |
C |
13: 112,825,880 (GRCm39) |
L106P |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,453,900 (GRCm39) |
R271H |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,877,643 (GRCm39) |
I227F |
probably damaging |
Het |
Srgap3 |
C |
T |
6: 112,752,520 (GRCm39) |
M321I |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,596,418 (GRCm39) |
I340V |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,181,711 (GRCm39) |
R341* |
probably null |
Het |
Terf2ip |
A |
C |
8: 112,742,087 (GRCm39) |
E260D |
probably damaging |
Het |
Tert |
G |
T |
13: 73,797,051 (GRCm39) |
K1096N |
probably damaging |
Het |
Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
Ube3d |
T |
A |
9: 86,254,395 (GRCm39) |
Q362L |
possibly damaging |
Het |
Unc5c |
G |
A |
3: 141,474,313 (GRCm39) |
G295D |
probably damaging |
Het |
Wnt7b |
T |
A |
15: 85,428,112 (GRCm39) |
I117F |
probably damaging |
Het |
Zcchc7 |
T |
C |
4: 44,895,043 (GRCm39) |
|
probably null |
Het |
Zfp619 |
A |
G |
7: 39,186,226 (GRCm39) |
Q752R |
possibly damaging |
Het |
Zkscan3 |
T |
C |
13: 21,572,034 (GRCm39) |
K533E |
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 |
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'- TCAAGGCAGCTTTCTGGGAG -3'
(R):5'- CGATATGAACAGGCTGGGAC -3'
Sequencing Primer
(F):5'- CAAAAGGGAATCAGAACTGCTTCTC -3'
(R):5'- CGCTGGGGACTCTGAGAATACTTTC -3'
|
Posted On |
2019-11-26 |