Incidental Mutation 'R4926:Scaf11'
| ID |
379065 |
| 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 |
042527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96309580-96358695 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96316123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1147
(E1147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047835]
[ENSMUST00000227069]
[ENSMUST00000228535]
|
| AlphaFold |
E9PZM7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047835
AA Change: E1147G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: E1147G
| 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 |
possibly damaging
Transcript: ENSMUST00000227069
AA Change: E1147G
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228072
AA Change: E150G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228535
|
| Meta Mutation Damage Score |
0.0816 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
99% (87/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
T |
9: 108,272,498 (GRCm39) |
D136V |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,447,891 (GRCm39) |
R217W |
probably damaging |
Het |
| Ankrd23 |
A |
T |
1: 36,571,068 (GRCm39) |
H102Q |
probably damaging |
Het |
| Arfip2 |
G |
T |
7: 105,287,151 (GRCm39) |
R138S |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,229,949 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,307,563 (GRCm39) |
L1499P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,194,416 (GRCm39) |
S110P |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,476,829 (GRCm39) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,535 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,467,768 (GRCm39) |
S1689P |
probably benign |
Het |
| Corin |
A |
G |
5: 72,529,525 (GRCm39) |
C212R |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,049,597 (GRCm39) |
I42V |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,928,266 (GRCm39) |
R260C |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,757,087 (GRCm39) |
Y116C |
probably damaging |
Het |
| Eif3a |
A |
G |
19: 60,751,656 (GRCm39) |
|
probably benign |
Het |
| Epop |
T |
C |
11: 97,519,143 (GRCm39) |
D322G |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,798,004 (GRCm39) |
|
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,287,925 (GRCm39) |
S1669P |
possibly damaging |
Het |
| Faah |
A |
T |
4: 115,856,823 (GRCm39) |
|
probably benign |
Het |
| Fanca |
A |
G |
8: 124,030,724 (GRCm39) |
C453R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,785,660 (GRCm39) |
C366S |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,329,981 (GRCm39) |
T124A |
unknown |
Het |
| Foxi3 |
C |
T |
6: 70,933,996 (GRCm39) |
S161L |
probably damaging |
Het |
| Foxo3 |
A |
T |
10: 42,073,020 (GRCm39) |
V499E |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Gm839 |
A |
C |
6: 89,189,581 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c2 |
T |
C |
5: 31,326,467 (GRCm39) |
E348G |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,197,199 (GRCm39) |
T413A |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,841 (GRCm39) |
Y2297H |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,093 (GRCm39) |
I53L |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,946,521 (GRCm39) |
V412A |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,056,385 (GRCm39) |
E1023D |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,584,758 (GRCm39) |
L118* |
probably null |
Het |
| Mrgpra9 |
T |
A |
7: 46,884,759 (GRCm39) |
T303S |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,647 (GRCm39) |
E68G |
probably benign |
Het |
| Nckap5 |
A |
C |
1: 126,456,378 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,720,169 (GRCm39) |
T339S |
probably damaging |
Het |
| Nrip2 |
A |
C |
6: 128,385,337 (GRCm39) |
H256P |
probably benign |
Het |
| Oas1d |
T |
C |
5: 121,053,831 (GRCm39) |
V97A |
probably benign |
Het |
| Obox2 |
T |
A |
7: 15,131,102 (GRCm39) |
|
probably null |
Het |
| Opa1 |
T |
C |
16: 29,467,791 (GRCm39) |
F989S |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,319 (GRCm39) |
|
probably null |
Het |
| Padi1 |
T |
A |
4: 140,552,158 (GRCm39) |
I429F |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,109,051 (GRCm39) |
D163G |
probably damaging |
Het |
| Pik3c2b |
G |
T |
1: 133,027,364 (GRCm39) |
E1288* |
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,426,009 (GRCm39) |
V593D |
possibly damaging |
Het |
| Prpf39 |
A |
G |
12: 65,090,830 (GRCm39) |
I165M |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,361,143 (GRCm39) |
T26A |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
| Rab44 |
C |
T |
17: 29,358,529 (GRCm39) |
A239V |
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,791,600 (GRCm39) |
N52S |
probably benign |
Het |
| Sapcd2 |
T |
A |
2: 25,263,578 (GRCm39) |
|
probably null |
Het |
| Selenoo |
T |
C |
15: 88,983,881 (GRCm39) |
Y595H |
probably damaging |
Het |
| Slc2a5 |
G |
T |
4: 150,205,199 (GRCm39) |
E3* |
probably null |
Het |
| Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,254 (GRCm39) |
K755R |
probably benign |
Het |
| Sorbs3 |
G |
T |
14: 70,424,394 (GRCm39) |
P513T |
probably damaging |
Het |
| Sowaha |
T |
A |
11: 53,370,337 (GRCm39) |
E133V |
possibly damaging |
Het |
| Srsf5 |
T |
C |
12: 80,994,075 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tcp11l1 |
T |
C |
2: 104,512,130 (GRCm39) |
I501V |
probably benign |
Het |
| Tert |
A |
G |
13: 73,796,508 (GRCm39) |
K1080E |
possibly damaging |
Het |
| Tescl |
T |
A |
7: 24,033,323 (GRCm39) |
M1L |
possibly damaging |
Het |
| Thop1 |
T |
A |
10: 80,909,201 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,210,618 (GRCm39) |
H80R |
probably damaging |
Het |
| Toe1 |
C |
T |
4: 116,661,729 (GRCm39) |
S480N |
probably damaging |
Het |
| Trap1 |
C |
A |
16: 3,863,352 (GRCm39) |
V557F |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,132,564 (GRCm39) |
E91G |
probably benign |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Ttll8 |
C |
A |
15: 88,798,368 (GRCm39) |
G789V |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,087,798 (GRCm39) |
F298S |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,780,227 (GRCm39) |
A243T |
probably benign |
Het |
| Zfp248 |
A |
C |
6: 118,406,787 (GRCm39) |
H267Q |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,321,785 (GRCm39) |
M945L |
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,825,434 (GRCm39) |
D16G |
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 |
|
R0379:Scaf11
|
UTSW |
15 |
96,329,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TCATCATAGCATCGGTTTTCTCAAG -3'
(R):5'- AAAACTTTGGCCCAGGCTGG -3'
Sequencing Primer
(F):5'- AAGACCGTTACCCTGCTCAG -3'
(R):5'- TGGATGTCCAGCCGTGGTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation