Incidental Mutation 'R0379:Scaf11'
| ID |
30900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaf11
|
| Ensembl Gene |
ENSMUSG00000033228 |
| Gene Name |
SR-related CTD-associated factor 11 |
| Synonyms |
2610510E10Rik, Srsf2ip, SIP1, Sfrs2ip, SRRP129, CASP11, 1110061H03Rik |
| MMRRC Submission |
038585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96309580-96358695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96329697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 143
(L143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047835]
[ENSMUST00000227069]
[ENSMUST00000228535]
|
| AlphaFold |
E9PZM7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047835
AA Change: L143S
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: L143S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
41 |
81 |
1.57e-2 |
SMART |
|
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
978 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1108 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1188 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1359 |
N/A |
INTRINSIC |
|
Blast:IG_like
|
1374 |
1415 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227069
AA Change: L143S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228260
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228535
AA Change: L81S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.8060 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
G |
11: 11,539,365 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
C |
19: 23,912,194 (GRCm39) |
N558T |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,702,320 (GRCm39) |
|
probably null |
Het |
| Arsb |
T |
C |
13: 94,077,135 (GRCm39) |
S501P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,145,141 (GRCm39) |
T1295A |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,361,898 (GRCm39) |
R648L |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,789 (GRCm39) |
I126T |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,090,802 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,430 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,778 (GRCm39) |
K1692R |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,791 (GRCm39) |
T13A |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Clec4g |
A |
G |
8: 3,768,440 (GRCm39) |
V97A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,229,897 (GRCm39) |
R1483K |
possibly damaging |
Het |
| Crem |
A |
T |
18: 3,299,226 (GRCm39) |
V82D |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,618,423 (GRCm39) |
T180S |
probably benign |
Het |
| Cybrd1 |
T |
C |
2: 70,960,099 (GRCm39) |
I99T |
probably benign |
Het |
| Cyp4a32 |
G |
A |
4: 115,478,671 (GRCm39) |
V468M |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,420,985 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,627,466 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,336 (GRCm39) |
Y1003F |
probably benign |
Het |
| Egfem1 |
A |
C |
3: 29,722,399 (GRCm39) |
E376A |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,812,165 (GRCm39) |
I1416K |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,386,106 (GRCm39) |
T238A |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,420,187 (GRCm39) |
I33M |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,794,049 (GRCm39) |
S830P |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,368 (GRCm39) |
R3082* |
probably null |
Het |
| Galnt13 |
T |
C |
2: 54,950,504 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gpd2 |
C |
T |
2: 57,235,275 (GRCm39) |
T335I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,235,759 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
G |
T |
19: 8,874,497 (GRCm39) |
V819L |
possibly damaging |
Het |
| Klhdc10 |
C |
G |
6: 30,450,669 (GRCm39) |
Q292E |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,566 (GRCm39) |
A67T |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,430,838 (GRCm39) |
T404P |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,470 (GRCm39) |
S249P |
probably benign |
Het |
| Mcm10 |
T |
A |
2: 5,013,434 (GRCm39) |
K66M |
probably benign |
Het |
| Mtmr7 |
C |
A |
8: 41,004,642 (GRCm39) |
D645Y |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,868 (GRCm39) |
I2602F |
possibly damaging |
Het |
| Myh13 |
G |
A |
11: 67,260,121 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,741,632 (GRCm39) |
V1776I |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,406,695 (GRCm39) |
L957S |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,896,422 (GRCm39) |
S442P |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,079 (GRCm39) |
E2K |
probably benign |
Het |
| Or6x1 |
G |
A |
9: 40,098,729 (GRCm39) |
G106D |
probably damaging |
Het |
| Or7g32 |
T |
A |
9: 19,388,776 (GRCm39) |
T257S |
possibly damaging |
Het |
| Pdcd6 |
G |
T |
13: 74,457,831 (GRCm39) |
N113K |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,856,810 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,024,195 (GRCm39) |
H401R |
probably benign |
Het |
| Phldb2 |
C |
A |
16: 45,601,814 (GRCm39) |
D754Y |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,902,195 (GRCm39) |
M49K |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,445 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,077 (GRCm39) |
N64S |
probably benign |
Het |
| Prss3l |
T |
G |
6: 41,422,190 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,864,583 (GRCm39) |
S393P |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,315,973 (GRCm39) |
T15I |
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpinf1 |
T |
G |
11: 75,304,771 (GRCm39) |
I197L |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,787,925 (GRCm39) |
V271I |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,048 (GRCm39) |
D34G |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,059,161 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,233,211 (GRCm39) |
I51T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,491,989 (GRCm39) |
R9Q |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,997,344 (GRCm39) |
H470L |
probably damaging |
Het |
| Ttc41 |
T |
A |
10: 86,548,841 (GRCm39) |
Y12N |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,612,105 (GRCm39) |
E69G |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,691,116 (GRCm39) |
T474M |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,019,201 (GRCm39) |
N777K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,184,016 (GRCm39) |
L1440P |
probably damaging |
Het |
| Usp28 |
A |
C |
9: 48,935,367 (GRCm39) |
D458A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,851,665 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,773 (GRCm39) |
T197I |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,344 (GRCm39) |
S787G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,948,401 (GRCm39) |
I549N |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
| Zfp974 |
T |
A |
7: 27,610,357 (GRCm39) |
N456I |
probably damaging |
Het |
|
| Other mutations in Scaf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Scaf11
|
APN |
15 |
96,316,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01386:Scaf11
|
APN |
15 |
96,318,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01449:Scaf11
|
APN |
15 |
96,317,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01547:Scaf11
|
APN |
15 |
96,316,310 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01697:Scaf11
|
APN |
15 |
96,321,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL01780:Scaf11
|
APN |
15 |
96,318,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02311:Scaf11
|
APN |
15 |
96,316,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02740:Scaf11
|
APN |
15 |
96,316,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02805:Scaf11
|
APN |
15 |
96,318,063 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03383:Scaf11
|
APN |
15 |
96,318,064 (GRCm39) |
splice site |
probably null |
|
|
R0173:Scaf11
|
UTSW |
15 |
96,318,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Scaf11
|
UTSW |
15 |
96,318,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Scaf11
|
UTSW |
15 |
96,316,339 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0653:Scaf11
|
UTSW |
15 |
96,316,522 (GRCm39) |
nonsense |
probably null |
|
|
R0727:Scaf11
|
UTSW |
15 |
96,317,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0829:Scaf11
|
UTSW |
15 |
96,316,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Scaf11
|
UTSW |
15 |
96,321,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Scaf11
|
UTSW |
15 |
96,329,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Scaf11
|
UTSW |
15 |
96,316,176 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1994:Scaf11
|
UTSW |
15 |
96,316,721 (GRCm39) |
nonsense |
probably null |
|
|
R2092:Scaf11
|
UTSW |
15 |
96,313,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2125:Scaf11
|
UTSW |
15 |
96,317,196 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2200:Scaf11
|
UTSW |
15 |
96,318,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Scaf11
|
UTSW |
15 |
96,312,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Scaf11
|
UTSW |
15 |
96,316,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4308:Scaf11
|
UTSW |
15 |
96,344,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Scaf11
|
UTSW |
15 |
96,316,309 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4519:Scaf11
|
UTSW |
15 |
96,322,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Scaf11
|
UTSW |
15 |
96,317,981 (GRCm39) |
splice site |
probably null |
|
|
R4647:Scaf11
|
UTSW |
15 |
96,317,981 (GRCm39) |
splice site |
probably null |
|
|
R4724:Scaf11
|
UTSW |
15 |
96,312,729 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4748:Scaf11
|
UTSW |
15 |
96,318,302 (GRCm39) |
nonsense |
probably null |
|
|
R4926:Scaf11
|
UTSW |
15 |
96,316,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4978:Scaf11
|
UTSW |
15 |
96,313,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5105:Scaf11
|
UTSW |
15 |
96,318,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Scaf11
|
UTSW |
15 |
96,317,423 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5277:Scaf11
|
UTSW |
15 |
96,317,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Scaf11
|
UTSW |
15 |
96,315,001 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5394:Scaf11
|
UTSW |
15 |
96,317,339 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5481:Scaf11
|
UTSW |
15 |
96,318,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Scaf11
|
UTSW |
15 |
96,314,962 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5941:Scaf11
|
UTSW |
15 |
96,318,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6123:Scaf11
|
UTSW |
15 |
96,318,335 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6166:Scaf11
|
UTSW |
15 |
96,322,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Scaf11
|
UTSW |
15 |
96,317,341 (GRCm39) |
splice site |
probably null |
|
|
R6863:Scaf11
|
UTSW |
15 |
96,317,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Scaf11
|
UTSW |
15 |
96,318,209 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7193:Scaf11
|
UTSW |
15 |
96,317,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Scaf11
|
UTSW |
15 |
96,318,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7790:Scaf11
|
UTSW |
15 |
96,316,942 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8056:Scaf11
|
UTSW |
15 |
96,312,698 (GRCm39) |
nonsense |
probably null |
|
|
R8104:Scaf11
|
UTSW |
15 |
96,316,483 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8129:Scaf11
|
UTSW |
15 |
96,317,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Scaf11
|
UTSW |
15 |
96,318,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Scaf11
|
UTSW |
15 |
96,316,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Scaf11
|
UTSW |
15 |
96,313,669 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8955:Scaf11
|
UTSW |
15 |
96,318,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Scaf11
|
UTSW |
15 |
96,316,557 (GRCm39) |
nonsense |
probably null |
|
|
R9118:Scaf11
|
UTSW |
15 |
96,319,886 (GRCm39) |
missense |
probably benign |
|
|
R9127:Scaf11
|
UTSW |
15 |
96,312,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9534:Scaf11
|
UTSW |
15 |
96,318,209 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9628:Scaf11
|
UTSW |
15 |
96,317,398 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9630:Scaf11
|
UTSW |
15 |
96,316,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Scaf11
|
UTSW |
15 |
96,313,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Scaf11
|
UTSW |
15 |
96,316,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Scaf11
|
UTSW |
15 |
96,318,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGCCAGTCCATGCCAATATC -3'
(R):5'- AGCAATGCCCTCTATTCTGCATGTC -3'
Sequencing Primer
(F):5'- TCAGGAGATGGTCTTTCAACAC -3'
(R):5'- TCTCGGTAGCCAGTCATGAAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation