Incidental Mutation 'R8056:Scaf11'
| ID |
619406 |
| 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 |
067493-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8056 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96309580-96358695 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 96312698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1448
(E1448*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047835]
[ENSMUST00000227069]
|
| AlphaFold |
E9PZM7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047835
AA Change: E1448*
|
| SMART Domains |
Protein: ENSMUSP00000044898
Gene: ENSMUSG00000033228
AA Change: E1448*
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228072
AA Change: E467*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
C |
11: 48,910,909 (GRCm39) |
E508G |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,659,611 (GRCm39) |
L88F |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,260,269 (GRCm39) |
P835S |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,868 (GRCm39) |
V1616A |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,856,180 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,492,771 (GRCm39) |
V3262A |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 107,982,506 (GRCm39) |
D977G |
|
Het |
| Cic |
G |
T |
7: 24,990,366 (GRCm39) |
A1956S |
possibly damaging |
Het |
| Clip4 |
C |
A |
17: 72,110,587 (GRCm39) |
T189K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,507,220 (GRCm39) |
E279G |
|
Het |
| Col24a1 |
A |
C |
3: 145,019,925 (GRCm39) |
I99L |
possibly damaging |
Het |
| Cpne3 |
A |
G |
4: 19,532,426 (GRCm39) |
V329A |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,030 (GRCm39) |
I204V |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,485 (GRCm39) |
I107V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,763,213 (GRCm39) |
R1840G |
probably null |
Het |
| Dhx36 |
A |
T |
3: 62,396,012 (GRCm39) |
L465Q |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,116 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,799,896 (GRCm39) |
T2931A |
probably damaging |
Het |
| Fam133b |
A |
T |
5: 3,615,744 (GRCm39) |
R215S |
unknown |
Het |
| Fbh1 |
G |
A |
2: 11,748,441 (GRCm39) |
T985I |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,892,633 (GRCm39) |
D2911G |
probably damaging |
Het |
| Gm13889 |
A |
T |
2: 93,787,020 (GRCm39) |
D151E |
probably damaging |
Het |
| Gosr2 |
C |
A |
11: 103,588,530 (GRCm39) |
|
probably benign |
Het |
| Igkv8-26 |
T |
A |
6: 70,170,706 (GRCm39) |
L99H |
probably damaging |
Het |
| Inhca |
A |
G |
9: 103,143,423 (GRCm39) |
C438R |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,554,762 (GRCm39) |
F679L |
probably damaging |
Het |
| Kif1a |
G |
C |
1: 92,982,423 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
C |
2: 153,171,979 (GRCm39) |
R716S |
possibly damaging |
Het |
| Lilra6 |
A |
T |
7: 3,915,551 (GRCm39) |
C395S |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,647,337 (GRCm39) |
F1302L |
probably damaging |
Het |
| Map2 |
T |
G |
1: 66,454,779 (GRCm39) |
V1223G |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,357,168 (GRCm39) |
N324K |
probably damaging |
Het |
| Morc3 |
T |
A |
16: 93,642,064 (GRCm39) |
H94Q |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,720,663 (GRCm39) |
V199A |
possibly damaging |
Het |
| Msx1 |
G |
A |
5: 37,981,544 (GRCm39) |
T45I |
probably benign |
Het |
| Myh7 |
G |
A |
14: 55,210,776 (GRCm39) |
Q1714* |
probably null |
Het |
| Narf |
T |
C |
11: 121,136,170 (GRCm39) |
V182A |
possibly damaging |
Het |
| Ncapd2 |
G |
A |
6: 125,148,006 (GRCm39) |
T1107M |
probably damaging |
Het |
| Nek3 |
A |
G |
8: 22,619,359 (GRCm39) |
|
probably null |
Het |
| Neurog1 |
G |
T |
13: 56,399,223 (GRCm39) |
P175T |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,085,112 (GRCm39) |
T156A |
probably damaging |
Het |
| Or1ad1 |
T |
A |
11: 50,876,368 (GRCm39) |
V280E |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,193,978 (GRCm39) |
I44F |
probably damaging |
Het |
| Or6c3 |
G |
A |
10: 129,309,061 (GRCm39) |
A167T |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,277,594 (GRCm39) |
E194G |
probably benign |
Het |
| Pga5 |
A |
C |
19: 10,654,161 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
G |
T |
8: 71,225,011 (GRCm39) |
P151T |
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,031,264 (GRCm39) |
C10R |
probably benign |
Het |
| Plxdc1 |
T |
A |
11: 97,869,343 (GRCm39) |
R82W |
probably damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,895 (GRCm39) |
A54T |
probably benign |
Het |
| Rab31 |
T |
C |
17: 66,024,503 (GRCm39) |
I59V |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,321 (GRCm39) |
M251V |
probably damaging |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rfc1 |
A |
C |
5: 65,451,436 (GRCm39) |
|
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,679 (GRCm39) |
I137T |
probably damaging |
Het |
| Rnf216 |
T |
C |
5: 142,978,616 (GRCm39) |
M841V |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,315,435 (GRCm39) |
L388P |
unknown |
Het |
| Serpina1b |
A |
T |
12: 103,784,137 (GRCm39) |
|
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,573,010 (GRCm39) |
I262T |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,887 (GRCm39) |
G586E |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,352 (GRCm39) |
G562E |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,658,682 (GRCm39) |
L126Q |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,759,589 (GRCm39) |
Y2086H |
unknown |
Het |
| Spmip10 |
A |
G |
18: 56,727,763 (GRCm39) |
N79S |
|
Het |
| Taf1c |
A |
T |
8: 120,330,202 (GRCm39) |
D47E |
probably benign |
Het |
| Tbx5 |
A |
C |
5: 119,991,678 (GRCm39) |
M250L |
probably benign |
Het |
| Tekt3 |
T |
C |
11: 62,974,785 (GRCm39) |
|
probably null |
Het |
| Topors |
T |
C |
4: 40,262,221 (GRCm39) |
I354M |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,574 (GRCm39) |
G1309V |
unknown |
Het |
| Ttyh1 |
C |
T |
7: 4,127,622 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,897,909 (GRCm39) |
I237T |
probably benign |
Het |
| Vmn1r197 |
T |
A |
13: 22,512,388 (GRCm39) |
V103D |
probably damaging |
Het |
| Zfp184 |
T |
C |
13: 22,143,008 (GRCm39) |
F238S |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,032 (GRCm39) |
F970L |
possibly damaging |
Het |
| Zfp90 |
A |
T |
8: 107,151,112 (GRCm39) |
E275V |
probably damaging |
Het |
| Zscan12 |
C |
G |
13: 21,553,492 (GRCm39) |
Q439E |
probably benign |
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 |
|
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 |
|
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'- ATAGAAGTTGCAGTGCACAGC -3'
(R):5'- AGCGTGAGTGCTGTACATGG -3'
Sequencing Primer
(F):5'- GCAGTGCACAGCTATATTTTGAAC -3'
(R):5'- TGGGAACAAGCGGCTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation