Incidental Mutation 'R4912:Sipa1l1'
| ID |
379649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| MMRRC Submission |
042514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4912 (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 82443452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 914
(L914P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053969
AA Change: L914P
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: L914P
| 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: L914P
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: L914P
| 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 |
possibly damaging
Transcript: ENSMUST00000220963
AA Change: L914P
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222298
AA Change: L914P
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222714
AA Change: L914P
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,505 (GRCm39) |
D52G |
possibly damaging |
Het |
| Acaa1a |
C |
A |
9: 119,171,827 (GRCm39) |
R102S |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,904,361 (GRCm39) |
R706* |
probably null |
Het |
| Best3 |
A |
G |
10: 116,844,886 (GRCm39) |
Y347C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,872,900 (GRCm39) |
D386E |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,144 (GRCm39) |
T66S |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,760,858 (GRCm39) |
D2201V |
possibly damaging |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Dffb |
T |
A |
4: 154,049,864 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
C |
14: 87,244,635 (GRCm39) |
C217W |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,927,924 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
T |
C |
1: 44,196,217 (GRCm39) |
I70T |
probably damaging |
Het |
| Fryl |
AGTGTGT |
AGTGT |
5: 73,226,125 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
C |
T |
17: 56,298,241 (GRCm39) |
P189S |
possibly damaging |
Het |
| Gm42669 |
A |
G |
5: 107,656,683 (GRCm39) |
K982R |
probably damaging |
Het |
| Gm5414 |
A |
G |
15: 101,533,445 (GRCm39) |
I373T |
possibly damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,498 (GRCm39) |
L177P |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,767,153 (GRCm39) |
D93N |
probably damaging |
Het |
| Hbq1b |
T |
A |
11: 32,237,014 (GRCm39) |
M1K |
probably null |
Het |
| Hps3 |
C |
A |
3: 20,068,337 (GRCm39) |
L572F |
probably damaging |
Het |
| Ighj2 |
T |
A |
12: 113,393,100 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,945,207 (GRCm39) |
M490T |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,796,597 (GRCm39) |
K404* |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,836,847 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
G |
T |
7: 27,005,541 (GRCm39) |
C1533* |
probably null |
Het |
| Mapre2 |
A |
G |
18: 23,965,990 (GRCm39) |
N25S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,087 (GRCm39) |
I43K |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,368,585 (GRCm39) |
Y495* |
probably null |
Het |
| Mrfap1 |
A |
G |
5: 36,954,089 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,361 (GRCm39) |
|
probably null |
Het |
| Myoz1 |
A |
T |
14: 20,699,606 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ndfip2 |
C |
T |
14: 105,496,120 (GRCm39) |
R5W |
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,164,857 (GRCm39) |
D423G |
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,837 (GRCm39) |
D859E |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,994,511 (GRCm39) |
A1729V |
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,895,589 (GRCm39) |
E157G |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,856,166 (GRCm39) |
H244L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,429 (GRCm39) |
S800P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,130,191 (GRCm39) |
S2707P |
probably benign |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rexo4 |
G |
A |
2: 26,852,404 (GRCm39) |
T200M |
possibly damaging |
Het |
| Saxo2 |
T |
A |
7: 82,283,743 (GRCm39) |
I372L |
probably benign |
Het |
| Scgb2b2 |
T |
A |
7: 31,003,056 (GRCm39) |
D50E |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,199,413 (GRCm39) |
D656V |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,300,171 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tdrd6 |
A |
C |
17: 43,935,218 (GRCm39) |
D1943E |
probably benign |
Het |
| Tmem163 |
G |
A |
1: 127,419,362 (GRCm39) |
T281M |
probably damaging |
Het |
| Tmod3 |
A |
G |
9: 75,439,730 (GRCm39) |
V35A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,867,951 (GRCm39) |
Q448L |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,935,455 (GRCm39) |
S937T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,481,304 (GRCm39) |
D1711V |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Utp20 |
G |
T |
10: 88,607,822 (GRCm39) |
Q1596K |
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,525 (GRCm39) |
I123F |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,596 (GRCm39) |
V138E |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,363 (GRCm39) |
D347G |
probably damaging |
Het |
| Vmn2r3 |
T |
G |
3: 64,166,618 (GRCm39) |
T838P |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,082,896 (GRCm39) |
D1268G |
probably damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,739 (GRCm39) |
H443Q |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,079,663 (GRCm39) |
V374A |
probably damaging |
Het |
| Zfp831 |
G |
T |
2: 174,486,417 (GRCm39) |
G364V |
probably damaging |
Het |
| Zfp94 |
A |
G |
7: 24,003,166 (GRCm39) |
V86A |
probably benign |
Het |
| Zkscan16 |
A |
C |
4: 58,946,506 (GRCm39) |
N127T |
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 |
|
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'- TCTCTGGCCTCCAAGAAGAAGG -3'
(R):5'- AGAGTAGCCAATCTTGCCCC -3'
Sequencing Primer
(F):5'- AGGAAAAGTCTAAGCCTTATCCAG -3'
(R):5'- CAGGCCTCTGTGCCCTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation