Incidental Mutation 'R4978:Scaf11'
| ID |
384628 |
| 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 |
042573-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4978 (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 96313798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1328
(N1328D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047835]
[ENSMUST00000227069]
[ENSMUST00000228535]
|
| AlphaFold |
E9PZM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047835
AA Change: N1328D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: N1328D
| 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: N1328D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228072
AA Change: N331D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228535
|
| Meta Mutation Damage Score |
0.1095 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,436 (GRCm39) |
P673S |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,278,374 (GRCm39) |
I255T |
possibly damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,296,205 (GRCm39) |
F1093S |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,854,265 (GRCm39) |
N744I |
probably benign |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,440 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,399 (GRCm39) |
Q141L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,662,114 (GRCm39) |
D201E |
probably null |
Het |
| Ccdc7b |
T |
C |
8: 129,836,688 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,093,227 (GRCm39) |
V818I |
probably benign |
Het |
| Cpeb4 |
C |
T |
11: 31,881,509 (GRCm39) |
H723Y |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,153,742 (GRCm39) |
F384I |
possibly damaging |
Het |
| Cyp2c50 |
T |
G |
19: 40,086,501 (GRCm39) |
V355G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpys |
A |
T |
15: 39,690,332 (GRCm39) |
D340E |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,366,210 (GRCm39) |
L548Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,252 (GRCm39) |
D335E |
probably benign |
Het |
| Etaa1 |
T |
C |
11: 17,896,581 (GRCm39) |
D512G |
probably damaging |
Het |
| Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Het |
| Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,431,533 (GRCm39) |
M451K |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,074,241 (GRCm39) |
L102P |
probably damaging |
Het |
| Gins2 |
A |
G |
8: 121,315,550 (GRCm39) |
L40S |
possibly damaging |
Het |
| Gm5436 |
G |
A |
12: 84,305,461 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7298 |
T |
G |
6: 121,710,076 (GRCm39) |
|
probably null |
Het |
| Gm7353 |
A |
G |
7: 3,160,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,832,213 (GRCm39) |
E608G |
possibly damaging |
Het |
| Hcls1 |
T |
C |
16: 36,758,222 (GRCm39) |
W38R |
probably damaging |
Het |
| Ik |
C |
T |
18: 36,880,468 (GRCm39) |
P51S |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,111,604 (GRCm39) |
S2P |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,666 (GRCm39) |
N511I |
probably damaging |
Het |
| Limk2 |
G |
T |
11: 3,359,069 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
G |
2: 121,131,623 (GRCm39) |
V813G |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,662,416 (GRCm39) |
T31A |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,947,583 (GRCm39) |
F71S |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,284,571 (GRCm39) |
G271R |
probably damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,398 (GRCm39) |
I51V |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,654 (GRCm39) |
T41A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Pde9a |
T |
A |
17: 31,692,197 (GRCm39) |
D497E |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,478,169 (GRCm39) |
S98P |
possibly damaging |
Het |
| Prl2c1 |
A |
G |
13: 28,041,553 (GRCm39) |
T192A |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,508,894 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
C |
T |
18: 70,127,585 (GRCm39) |
V68I |
probably benign |
Het |
| Reep5 |
A |
G |
18: 34,506,349 (GRCm39) |
F9S |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,042,300 (GRCm39) |
S626F |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,470 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,966,911 (GRCm39) |
F332I |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,082,891 (GRCm39) |
R1039Q |
possibly damaging |
Het |
| Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,985,900 (GRCm39) |
Q217R |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,205,055 (GRCm39) |
I550T |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,612,572 (GRCm39) |
Y18* |
probably null |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,872 (GRCm39) |
N43K |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,517,808 (GRCm39) |
N82S |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,211,460 (GRCm39) |
D90G |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,154,752 (GRCm39) |
Y512C |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,295 (GRCm39) |
D434G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,183 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
A |
G |
11: 62,679,754 (GRCm39) |
|
probably null |
Het |
| Zkscan17 |
A |
G |
11: 59,384,053 (GRCm39) |
V123A |
possibly damaging |
Het |
| Zkscan2 |
C |
G |
7: 123,094,542 (GRCm39) |
A211P |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
|
R4926:Scaf11
|
UTSW |
15 |
96,316,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- ACCTGGAACTTGCCTTGTCTG -3'
(R):5'- GTCTGACAGAAATGCAGATATTTGG -3'
Sequencing Primer
(F):5'- AACTTGCCTTGTCTGTCCTCGAG -3'
(R):5'- TGATGCATAACACCCTGTGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation