Incidental Mutation 'R8777-TAIL:Snapc4'
| ID |
668093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc4
|
| Ensembl Gene |
ENSMUSG00000036281 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
| Synonyms |
5730436L13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8777-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26259375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 592
(S592P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035427]
[ENSMUST00000114115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
AA Change: S584P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: S584P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
93 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
212 |
N/A |
INTRINSIC |
|
SANT
|
219 |
290 |
2.37e1 |
SMART |
|
SANT
|
293 |
343 |
4.38e-10 |
SMART |
|
SANT
|
345 |
397 |
3.05e-9 |
SMART |
|
SANT
|
400 |
449 |
8.24e-15 |
SMART |
|
SANT
|
452 |
501 |
7.8e-16 |
SMART |
|
low complexity region
|
516 |
547 |
N/A |
INTRINSIC |
|
Blast:SANT
|
550 |
753 |
1e-23 |
BLAST |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114115
AA Change: S592P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: S592P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
SANT
|
227 |
298 |
2.37e1 |
SMART |
|
SANT
|
301 |
351 |
4.38e-10 |
SMART |
|
SANT
|
353 |
405 |
3.05e-9 |
SMART |
|
SANT
|
408 |
457 |
8.24e-15 |
SMART |
|
SANT
|
460 |
509 |
7.8e-16 |
SMART |
|
low complexity region
|
524 |
555 |
N/A |
INTRINSIC |
|
Blast:SANT
|
558 |
761 |
1e-23 |
BLAST |
|
low complexity region
|
901 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123934
|
| SMART Domains |
Protein: ENSMUSP00000122456
Gene: ENSMUSG00000036281
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
47 |
99 |
3.05e-9 |
SMART |
|
SANT
|
102 |
151 |
8.24e-15 |
SMART |
|
SANT
|
154 |
203 |
7.8e-16 |
SMART |
|
low complexity region
|
218 |
249 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,989,894 (GRCm39) |
T816S |
probably benign |
Het |
| Aff4 |
G |
A |
11: 53,290,783 (GRCm39) |
S581N |
probably damaging |
Het |
| Aimp2 |
G |
A |
5: 143,839,825 (GRCm39) |
A253V |
probably damaging |
Het |
| Arl6ip4 |
T |
G |
5: 124,254,611 (GRCm39) |
S35A |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,059,869 (GRCm39) |
Y787N |
probably damaging |
Het |
| Btbd8 |
T |
G |
5: 107,658,293 (GRCm39) |
I1621R |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,334 (GRCm39) |
S13P |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,801,793 (GRCm39) |
S108F |
probably damaging |
Het |
| Ccdc39 |
G |
A |
3: 33,893,282 (GRCm39) |
T101I |
probably benign |
Het |
| Cdh13 |
G |
T |
8: 119,963,706 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
T |
6: 129,380,537 (GRCm39) |
E151V |
probably benign |
Het |
| Cplx1 |
T |
A |
5: 108,673,435 (GRCm39) |
|
probably null |
Het |
| Diablo |
T |
A |
5: 123,655,990 (GRCm39) |
I150F |
unknown |
Het |
| Esp31 |
T |
C |
17: 38,955,582 (GRCm39) |
V75A |
probably benign |
Het |
| Gm49336 |
G |
A |
14: 60,466,185 (GRCm39) |
L458F |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,972 (GRCm39) |
S241C |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,432 (GRCm39) |
N182S |
probably damaging |
Het |
| Hephl1 |
T |
G |
9: 14,972,090 (GRCm39) |
D950A |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,234,612 (GRCm39) |
I556T |
possibly damaging |
Het |
| Ints4 |
C |
A |
7: 97,134,227 (GRCm39) |
A53D |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,712 (GRCm39) |
V124A |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,058,657 (GRCm39) |
Q734H |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,304 (GRCm39) |
T1806A |
unknown |
Het |
| Mcmbp |
A |
T |
7: 128,308,855 (GRCm39) |
F389I |
probably damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,141,237 (GRCm39) |
G422S |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,632,185 (GRCm39) |
H173R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,747,422 (GRCm39) |
G200S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,252,161 (GRCm39) |
Q1423L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,398 (GRCm39) |
R1454G |
possibly damaging |
Het |
| Mylk4 |
C |
T |
13: 32,913,089 (GRCm39) |
V70I |
probably benign |
Het |
| Myof |
A |
G |
19: 37,968,841 (GRCm39) |
V358A |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,324,494 (GRCm39) |
H47L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,324,492 (GRCm39) |
I48F |
probably benign |
Het |
| Neurog2 |
G |
T |
3: 127,427,742 (GRCm39) |
R122L |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,129 (GRCm39) |
L193Q |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,227,234 (GRCm39) |
N290D |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,120 (GRCm39) |
M1409T |
probably benign |
Het |
| Oas1h |
T |
C |
5: 121,005,107 (GRCm39) |
L185P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,848 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,757 (GRCm39) |
W6* |
probably null |
Het |
| Or6c3 |
T |
A |
10: 129,309,374 (GRCm39) |
V271E |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,128,974 (GRCm39) |
N853K |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,557 (GRCm39) |
P405Q |
probably benign |
Het |
| Piwil4 |
A |
C |
9: 14,650,685 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,967 (GRCm39) |
Y547H |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,382,156 (GRCm39) |
L51P |
probably damaging |
Het |
| Rufy2 |
T |
G |
10: 62,833,660 (GRCm39) |
L241V |
possibly damaging |
Het |
| Slc5a5 |
T |
C |
8: 71,343,934 (GRCm39) |
I155V |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,351,991 (GRCm39) |
M18R |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,550,533 (GRCm39) |
W86R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,244 (GRCm39) |
N2457S |
probably damaging |
Het |
| Tent4a |
T |
A |
13: 69,658,824 (GRCm39) |
D337V |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,706,309 (GRCm39) |
T37N |
possibly damaging |
Het |
| Tmem268 |
T |
A |
4: 63,496,076 (GRCm39) |
N172K |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,773,949 (GRCm39) |
V2855D |
probably benign |
Het |
| Tubb6 |
A |
T |
18: 67,534,598 (GRCm39) |
T166S |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,034 (GRCm39) |
Y179C |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,933,597 (GRCm39) |
N1302D |
probably benign |
Het |
| Ube2r2 |
C |
T |
4: 41,190,715 (GRCm39) |
S203L |
possibly damaging |
Het |
| Vldlr |
G |
T |
19: 27,217,946 (GRCm39) |
V465L |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r42 |
A |
G |
7: 8,195,692 (GRCm39) |
F485L |
probably benign |
Het |
|
| Other mutations in Snapc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Snapc4
|
APN |
2 |
26,259,324 (GRCm39) |
missense |
probably benign |
|
|
IGL01730:Snapc4
|
APN |
2 |
26,253,736 (GRCm39) |
splice site |
probably null |
|
|
IGL01958:Snapc4
|
APN |
2 |
26,256,452 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02354:Snapc4
|
APN |
2 |
26,257,319 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02425:Snapc4
|
APN |
2 |
26,258,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Snapc4
|
APN |
2 |
26,259,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02951:Snapc4
|
APN |
2 |
26,260,847 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0011:Snapc4
|
UTSW |
2 |
26,254,825 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0409:Snapc4
|
UTSW |
2 |
26,257,228 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0932:Snapc4
|
UTSW |
2 |
26,264,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Snapc4
|
UTSW |
2 |
26,266,209 (GRCm39) |
missense |
probably benign |
|
|
R1878:Snapc4
|
UTSW |
2 |
26,266,165 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3722:Snapc4
|
UTSW |
2 |
26,255,440 (GRCm39) |
missense |
probably benign |
|
|
R3886:Snapc4
|
UTSW |
2 |
26,255,510 (GRCm39) |
nonsense |
probably null |
|
|
R3887:Snapc4
|
UTSW |
2 |
26,255,510 (GRCm39) |
nonsense |
probably null |
|
|
R3888:Snapc4
|
UTSW |
2 |
26,255,510 (GRCm39) |
nonsense |
probably null |
|
|
R3889:Snapc4
|
UTSW |
2 |
26,255,510 (GRCm39) |
nonsense |
probably null |
|
|
R4638:Snapc4
|
UTSW |
2 |
26,255,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Snapc4
|
UTSW |
2 |
26,264,193 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4879:Snapc4
|
UTSW |
2 |
26,256,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4922:Snapc4
|
UTSW |
2 |
26,259,245 (GRCm39) |
missense |
probably benign |
|
|
R5385:Snapc4
|
UTSW |
2 |
26,264,515 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5525:Snapc4
|
UTSW |
2 |
26,259,538 (GRCm39) |
small deletion |
probably benign |
|
|
R5762:Snapc4
|
UTSW |
2 |
26,268,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Snapc4
|
UTSW |
2 |
26,255,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6300:Snapc4
|
UTSW |
2 |
26,268,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6422:Snapc4
|
UTSW |
2 |
26,258,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6843:Snapc4
|
UTSW |
2 |
26,263,611 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7044:Snapc4
|
UTSW |
2 |
26,259,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Snapc4
|
UTSW |
2 |
26,259,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7727:Snapc4
|
UTSW |
2 |
26,263,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Snapc4
|
UTSW |
2 |
26,266,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8277:Snapc4
|
UTSW |
2 |
26,255,722 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8311:Snapc4
|
UTSW |
2 |
26,268,546 (GRCm39) |
missense |
probably benign |
|
|
R8323:Snapc4
|
UTSW |
2 |
26,254,711 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8777:Snapc4
|
UTSW |
2 |
26,259,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8855:Snapc4
|
UTSW |
2 |
26,264,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Snapc4
|
UTSW |
2 |
26,260,805 (GRCm39) |
nonsense |
probably null |
|
|
R9362:Snapc4
|
UTSW |
2 |
26,254,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9718:Snapc4
|
UTSW |
2 |
26,268,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Snapc4
|
UTSW |
2 |
26,267,019 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0010:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0014:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0033:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Snapc4
|
UTSW |
2 |
26,259,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Snapc4
|
UTSW |
2 |
26,258,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation