Incidental Mutation 'R5377:Scaf11'
ID |
425645 |
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 |
042845-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5377 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
96309580-96358695 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96315001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1227
(H1227L)
|
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: H1227L
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000044898 Gene: ENSMUSG00000033228 AA Change: H1227L
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 benign
Transcript: ENSMUST00000227069
AA Change: H1227L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228072
AA Change: H230L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228535
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
T |
6: 121,622,212 (GRCm39) |
V372F |
probably benign |
Het |
Adcy10 |
G |
A |
1: 165,347,464 (GRCm39) |
C393Y |
probably damaging |
Het |
Adgrg7 |
A |
C |
16: 56,550,669 (GRCm39) |
I681S |
possibly damaging |
Het |
Akap8l |
T |
C |
17: 32,540,485 (GRCm39) |
|
probably benign |
Het |
Akr1a1 |
A |
T |
4: 116,497,092 (GRCm39) |
V156E |
probably damaging |
Het |
Alk |
T |
G |
17: 72,202,734 (GRCm39) |
D1167A |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,620,453 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
A |
1: 139,385,221 (GRCm39) |
N288K |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,398,133 (GRCm39) |
|
probably null |
Het |
Asxl2 |
G |
A |
12: 3,524,618 (GRCm39) |
|
probably null |
Het |
Atp6v0a1 |
A |
G |
11: 100,946,413 (GRCm39) |
H802R |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,007,691 (GRCm39) |
T531A |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,733,530 (GRCm39) |
N506D |
possibly damaging |
Het |
Crebrf |
T |
C |
17: 26,978,839 (GRCm39) |
V509A |
probably damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,894,590 (GRCm39) |
I413F |
probably null |
Het |
Defb12 |
C |
A |
8: 19,164,342 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
C |
11: 69,312,674 (GRCm39) |
E4297G |
probably damaging |
Het |
Dpysl5 |
A |
T |
5: 30,948,857 (GRCm39) |
N371Y |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
Esrrb |
C |
T |
12: 86,565,783 (GRCm39) |
Q416* |
probably null |
Het |
Exd2 |
T |
C |
12: 80,536,222 (GRCm39) |
L284P |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,287,739 (GRCm39) |
I595F |
probably benign |
Het |
Gm9920 |
A |
G |
15: 54,972,371 (GRCm39) |
|
probably benign |
Het |
Hephl1 |
T |
C |
9: 14,981,084 (GRCm39) |
K783E |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,055,277 (GRCm39) |
S1052P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 58,002,252 (GRCm39) |
I192V |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,586,803 (GRCm39) |
D722G |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,216 (GRCm39) |
V1080A |
possibly damaging |
Het |
Lpin1 |
C |
T |
12: 16,613,656 (GRCm39) |
G504S |
probably damaging |
Het |
Lrit2 |
A |
C |
14: 36,791,140 (GRCm39) |
Q273P |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,054,569 (GRCm39) |
E189D |
probably benign |
Het |
Mttp |
C |
T |
3: 137,810,790 (GRCm39) |
R608H |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,238,908 (GRCm39) |
V2011A |
probably benign |
Het |
Nos2 |
A |
T |
11: 78,848,317 (GRCm39) |
I1075F |
probably benign |
Het |
Npat |
A |
G |
9: 53,461,336 (GRCm39) |
|
probably null |
Het |
Nucks1 |
T |
C |
1: 131,846,771 (GRCm39) |
F16L |
probably damaging |
Het |
Nus1 |
T |
C |
10: 52,305,309 (GRCm39) |
S150P |
possibly damaging |
Het |
Odad1 |
C |
T |
7: 45,591,506 (GRCm39) |
R257* |
probably null |
Het |
Oga |
A |
T |
19: 45,746,461 (GRCm39) |
Y779* |
probably null |
Het |
Or4c123 |
G |
T |
2: 89,127,506 (GRCm39) |
T36K |
probably damaging |
Het |
Or8b35 |
A |
T |
9: 37,903,908 (GRCm39) |
Y40F |
probably benign |
Het |
Pclo |
A |
G |
5: 14,731,367 (GRCm39) |
T3290A |
unknown |
Het |
Pign |
A |
T |
1: 105,585,537 (GRCm39) |
F4Y |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,696,406 (GRCm39) |
N233D |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,652 (GRCm39) |
M1325L |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec31b |
G |
T |
19: 44,507,076 (GRCm39) |
P840T |
probably damaging |
Het |
Slc16a9 |
T |
A |
10: 70,118,958 (GRCm39) |
L426I |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc34a1 |
T |
C |
13: 23,996,575 (GRCm39) |
S27P |
probably damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,299 (GRCm39) |
S310P |
possibly damaging |
Het |
Tmem245 |
G |
A |
4: 56,947,084 (GRCm39) |
R110C |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,735,152 (GRCm39) |
Y953C |
probably damaging |
Het |
Trpm7 |
C |
A |
2: 126,684,775 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,644,320 (GRCm39) |
V4561I |
probably benign |
Het |
Vmn1r192 |
C |
T |
13: 22,371,801 (GRCm39) |
V140I |
probably benign |
Het |
Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
Vmn2r99 |
T |
C |
17: 19,599,531 (GRCm39) |
V405A |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,509,678 (GRCm39) |
V172G |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,677,817 (GRCm39) |
R2956C |
possibly damaging |
Het |
Zfp446 |
T |
C |
7: 12,716,178 (GRCm39) |
L283P |
possibly damaging |
Het |
Zfp82 |
T |
C |
7: 29,756,591 (GRCm39) |
K164E |
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 |
|
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 |
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'- AGCTACCTGCATGAGAGGAAC -3'
(R):5'- TGCTATGTAACCTGGCATTAGTAAC -3'
Sequencing Primer
(F):5'- AAGGGTTCCGCTGCATAT -3'
(R):5'- CCTGGCATTAGTAACTTAGAGAATG -3'
|
Posted On |
2016-08-04 |