Incidental Mutation 'R2191:Sipa1l1'
ID |
238131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sipa1l1
|
Ensembl Gene |
ENSMUSG00000042700 |
Gene Name |
signal-induced proliferation-associated 1 like 1 |
Synonyms |
Spar, 4931426N11Rik |
MMRRC Submission |
040193-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2191 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 82443465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 918
(Y918*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
AlphaFold |
Q8C0T5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053969
AA Change: Y918*
|
SMART Domains |
Protein: ENSMUSP00000061014 Gene: ENSMUSG00000042700 AA Change: Y918*
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: Y918*
|
SMART Domains |
Protein: ENSMUSP00000131030 Gene: ENSMUSG00000042700 AA Change: Y918*
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 |
noncoding transcript
Transcript: ENSMUST00000220766
|
Predicted Effect |
probably null
Transcript: ENSMUST00000220963
AA Change: Y918*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222298
AA Change: Y918*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000222714
AA Change: Y918*
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
Actn1 |
A |
T |
12: 80,218,576 (GRCm39) |
L736* |
probably null |
Het |
Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
Atp9b |
G |
A |
18: 80,796,266 (GRCm39) |
R926W |
probably damaging |
Het |
Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,944,704 (GRCm39) |
Q475L |
probably benign |
Het |
Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,709,441 (GRCm39) |
D138G |
probably damaging |
Het |
Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
Ubr1 |
A |
T |
2: 120,756,528 (GRCm39) |
S700T |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
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 |
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 |
|
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'- TCTGGCCTCCAAGAAGAAGG -3'
(R):5'- GGAATTGCCAGAGTAGCCAATC -3'
Sequencing Primer
(F):5'- AGGAAAAGTCTAAGCCTTATCCAG -3'
(R):5'- TGCCAGAGTAGCCAATCTTGCC -3'
|
Posted On |
2014-10-02 |