Incidental Mutation 'R6048:Sipa1l1'
| ID |
483407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
044216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82487643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1639
(Q1639L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053969
AA Change: Q1639L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: Q1639L
| 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: Q1639L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: Q1639L
| 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: Q1639L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222298
AA Change: Q1639L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222714
AA Change: Q1639L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a2 |
T |
C |
9: 71,169,049 (GRCm39) |
I177T |
probably damaging |
Het |
| Aopep |
T |
A |
13: 63,388,139 (GRCm39) |
F39L |
probably damaging |
Het |
| Arl4c |
A |
G |
1: 88,629,350 (GRCm39) |
S13P |
possibly damaging |
Het |
| Bst1 |
G |
T |
5: 43,976,306 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,302 (GRCm39) |
R1029Q |
probably benign |
Het |
| Cflar |
A |
G |
1: 58,780,202 (GRCm39) |
T269A |
probably benign |
Het |
| Clcnka |
T |
A |
4: 141,121,798 (GRCm39) |
Y236F |
probably damaging |
Het |
| Clmp |
T |
A |
9: 40,682,405 (GRCm39) |
I63N |
probably damaging |
Het |
| Cln6 |
T |
C |
9: 62,751,908 (GRCm39) |
L44P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,718,915 (GRCm39) |
A280T |
unknown |
Het |
| Dact2 |
A |
G |
17: 14,417,567 (GRCm39) |
L211P |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,813,272 (GRCm39) |
Q225K |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,453,616 (GRCm39) |
F1245S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,835,259 (GRCm39) |
K3540E |
unknown |
Het |
| Eif3i |
T |
C |
4: 129,487,145 (GRCm39) |
N240S |
probably benign |
Het |
| Enpp1 |
T |
C |
10: 24,536,152 (GRCm39) |
Y416C |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,854,889 (GRCm39) |
R565S |
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,966,609 (GRCm39) |
P217L |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,967 (GRCm39) |
Y188C |
probably benign |
Het |
| Fgd3 |
G |
A |
13: 49,427,224 (GRCm39) |
P503S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,340,062 (GRCm39) |
L785P |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,835,769 (GRCm39) |
|
probably null |
Het |
| Gm10787 |
C |
T |
10: 76,857,676 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6563 |
A |
G |
19: 23,653,246 (GRCm39) |
K12R |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,675,758 (GRCm39) |
L424P |
probably damaging |
Het |
| H2ac11 |
A |
G |
13: 22,227,006 (GRCm39) |
V31A |
probably benign |
Het |
| Il17re |
T |
C |
6: 113,447,069 (GRCm39) |
S607P |
possibly damaging |
Het |
| Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,780 (GRCm39) |
M854T |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,348,086 (GRCm39) |
L315P |
probably damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,497,734 (GRCm39) |
V11A |
possibly damaging |
Het |
| Mxd1 |
C |
A |
6: 86,627,966 (GRCm39) |
D191Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,807,160 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,543,128 (GRCm39) |
|
probably null |
Het |
| Nxph1 |
A |
T |
6: 9,247,103 (GRCm39) |
T25S |
probably benign |
Het |
| Or1n1 |
A |
G |
2: 36,749,853 (GRCm39) |
V169A |
probably benign |
Het |
| Or2bd2 |
A |
C |
7: 6,443,354 (GRCm39) |
T152P |
possibly damaging |
Het |
| Or3a1 |
A |
T |
11: 74,225,961 (GRCm39) |
I32K |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,526 (GRCm39) |
N7S |
probably benign |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c219 |
A |
G |
10: 129,781,695 (GRCm39) |
F79L |
possibly damaging |
Het |
| Oxsm |
T |
A |
14: 16,242,308 (GRCm38) |
M154L |
possibly damaging |
Het |
| Papolg |
A |
C |
11: 23,841,815 (GRCm39) |
I36S |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,107,502 (GRCm39) |
H544Q |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,656 (GRCm39) |
|
probably null |
Het |
| Prkce |
C |
A |
17: 86,800,775 (GRCm39) |
P397Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,276,765 (GRCm39) |
S492G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,659 (GRCm39) |
Y630H |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,459,973 (GRCm39) |
T211I |
possibly damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,348 (GRCm39) |
D666E |
probably benign |
Het |
| Sertad2 |
A |
G |
11: 20,598,436 (GRCm39) |
T211A |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,101,073 (GRCm39) |
D98G |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,185,332 (GRCm39) |
|
probably null |
Het |
| Spmip2 |
T |
C |
3: 79,313,192 (GRCm39) |
S89P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,181 (GRCm39) |
S114P |
probably benign |
Het |
| Tns2 |
G |
A |
15: 102,019,846 (GRCm39) |
G579R |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,517,295 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,448 (GRCm39) |
I110T |
probably damaging |
Het |
| Vps37a |
C |
T |
8: 40,981,363 (GRCm39) |
L69F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,338,587 (GRCm39) |
I276N |
possibly damaging |
Het |
| Zfp946 |
G |
A |
17: 22,673,821 (GRCm39) |
E192K |
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 |
|
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'- TGCTGGAGTAGACCTTGATTCC -3'
(R):5'- CGTGAAGCACATTTACTGTCAG -3'
Sequencing Primer
(F):5'- GGAGTAGACCTTGATTCCATCTGC -3'
(R):5'- GAAGCACATTTACTGTCAGTGTGCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation