Incidental Mutation 'R1950:Sipa1l1'
ID |
217229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sipa1l1
|
Ensembl Gene |
ENSMUSG00000042700 |
Gene Name |
signal-induced proliferation-associated 1 like 1 |
Synonyms |
Spar, 4931426N11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1950 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82388233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 153
(F153S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
AlphaFold |
Q8C0T5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053969
AA Change: F153S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000061014 Gene: ENSMUSG00000042700 AA Change: F153S
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 damaging
Transcript: ENSMUST00000166429
AA Change: F153S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131030 Gene: ENSMUSG00000042700 AA Change: F153S
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 damaging
Transcript: ENSMUST00000220963
AA Change: F153S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222298
AA Change: F153S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222714
AA Change: F153S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,010,677 (GRCm39) |
N478S |
probably damaging |
Het |
Als2 |
T |
A |
1: 59,224,760 (GRCm39) |
|
probably null |
Het |
Ankfy1 |
A |
G |
11: 72,651,155 (GRCm39) |
Y1035C |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,616,608 (GRCm39) |
T2394A |
probably damaging |
Het |
Axin1 |
G |
C |
17: 26,412,938 (GRCm39) |
G780R |
possibly damaging |
Het |
Carm1 |
A |
T |
9: 21,485,812 (GRCm39) |
T127S |
probably benign |
Het |
Ccdc73 |
T |
C |
2: 104,757,280 (GRCm39) |
I81T |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,237,965 (GRCm39) |
Y67H |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,946,819 (GRCm39) |
G1297V |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,511,887 (GRCm39) |
|
probably null |
Het |
Chit1 |
A |
G |
1: 134,078,968 (GRCm39) |
Y426C |
probably damaging |
Het |
Clpp |
A |
G |
17: 57,303,039 (GRCm39) |
|
probably benign |
Het |
Clrn3 |
T |
G |
7: 135,115,813 (GRCm39) |
Y179S |
possibly damaging |
Het |
Cntn5 |
A |
C |
9: 9,781,774 (GRCm39) |
M635R |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,043,863 (GRCm39) |
N102S |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,418,674 (GRCm39) |
I154F |
probably benign |
Het |
Dffa |
C |
A |
4: 149,188,839 (GRCm39) |
S44R |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,009,228 (GRCm39) |
K930M |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,634,857 (GRCm39) |
S473T |
probably damaging |
Het |
Fbxw24 |
A |
T |
9: 109,434,481 (GRCm39) |
L373H |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,890,194 (GRCm39) |
I244V |
probably damaging |
Het |
Fgfr2 |
G |
A |
7: 129,800,211 (GRCm39) |
T245M |
probably damaging |
Het |
Garin1b |
C |
T |
6: 29,335,815 (GRCm39) |
|
probably null |
Het |
Gbp9 |
T |
A |
5: 105,229,112 (GRCm39) |
M512L |
probably benign |
Het |
Glg1 |
T |
A |
8: 111,892,271 (GRCm39) |
K251I |
possibly damaging |
Het |
Gm10553 |
A |
G |
1: 85,078,141 (GRCm39) |
D86G |
possibly damaging |
Het |
Gm5622 |
T |
C |
14: 51,893,229 (GRCm39) |
V52A |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,952,716 (GRCm39) |
V239A |
probably benign |
Het |
Gzma |
A |
G |
13: 113,230,463 (GRCm39) |
L246P |
probably damaging |
Het |
Hibadh |
C |
A |
6: 52,533,448 (GRCm39) |
A223S |
probably benign |
Het |
Hydin |
C |
A |
8: 111,336,619 (GRCm39) |
T5132N |
possibly damaging |
Het |
Insrr |
A |
G |
3: 87,721,820 (GRCm39) |
N1198S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,479,420 (GRCm39) |
E215G |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,075,701 (GRCm39) |
D2037G |
possibly damaging |
Het |
Kcna3 |
G |
A |
3: 106,944,988 (GRCm39) |
C417Y |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,207,078 (GRCm39) |
N177S |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,892 (GRCm39) |
S645P |
probably damaging |
Het |
Lrrc15 |
T |
C |
16: 30,092,649 (GRCm39) |
E230G |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,028,163 (GRCm39) |
Q356K |
possibly damaging |
Het |
Mcm6 |
A |
G |
1: 128,273,726 (GRCm39) |
V368A |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,169,830 (GRCm39) |
V50M |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,195,554 (GRCm39) |
F419I |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or10ak16 |
G |
A |
4: 118,750,537 (GRCm39) |
V86M |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,684 (GRCm39) |
M186V |
probably benign |
Het |
Otud4 |
G |
A |
8: 80,372,961 (GRCm39) |
R93H |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,056,977 (GRCm39) |
M390K |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,576,029 (GRCm39) |
V401A |
probably damaging |
Het |
Prdm6 |
C |
A |
18: 53,669,796 (GRCm39) |
T138K |
possibly damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,387,337 (GRCm39) |
E1206G |
possibly damaging |
Het |
Prr30 |
A |
T |
14: 101,435,377 (GRCm39) |
I395N |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,982,751 (GRCm39) |
G19R |
probably damaging |
Het |
Ramacl |
A |
G |
13: 67,055,269 (GRCm39) |
|
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,881,029 (GRCm39) |
V134A |
probably damaging |
Het |
Scly |
A |
G |
1: 91,233,116 (GRCm39) |
T76A |
probably benign |
Het |
Scube3 |
T |
C |
17: 28,383,274 (GRCm39) |
S439P |
possibly damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Slc25a30 |
T |
G |
14: 76,007,007 (GRCm39) |
K163T |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,863,614 (GRCm39) |
D715V |
probably benign |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Smr2 |
C |
CT |
5: 88,256,685 (GRCm39) |
|
probably null |
Het |
Sp6 |
T |
G |
11: 96,912,940 (GRCm39) |
S218A |
probably benign |
Het |
Spata21 |
T |
C |
4: 140,838,716 (GRCm39) |
V589A |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,044,593 (GRCm39) |
I71V |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,999,644 (GRCm39) |
G2347C |
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,906,079 (GRCm39) |
N387K |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,793,381 (GRCm39) |
D216G |
probably damaging |
Het |
Tprg1 |
T |
A |
16: 25,136,098 (GRCm39) |
S30T |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,738,522 (GRCm39) |
W778R |
probably damaging |
Het |
Ttpa |
T |
C |
4: 20,008,633 (GRCm39) |
L65P |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,487,382 (GRCm39) |
N3050I |
probably damaging |
Het |
Xpot |
T |
C |
10: 121,455,053 (GRCm39) |
I30V |
probably benign |
Het |
Zfp944 |
A |
G |
17: 22,558,681 (GRCm39) |
S189P |
probably benign |
Het |
Zftraf1 |
A |
G |
15: 76,543,417 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- AATCCAGCCGTTCAAGCCAG -3'
(R):5'- AAATCGAAGAAGCTGTCTCCG -3'
Sequencing Primer
(F):5'- CAGCCGTTCAAGCCAGGAAATAG -3'
(R):5'- AAGAAGCTGTCTCCGGATGTTCC -3'
|
Posted On |
2014-08-01 |