Incidental Mutation 'R6300:Snapc4'
ID |
509007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc4
|
Ensembl Gene |
ENSMUSG00000036281 |
Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
Synonyms |
5730436L13Rik |
MMRRC Submission |
044409-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6300 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26268563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 33
(S33P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000035427]
[ENSMUST00000077983]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000114115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028293
|
SMART Domains |
Protein: ENSMUSP00000028293 Gene: ENSMUSG00000026927
Domain | Start | End | E-Value | Type |
coiled coil region
|
209 |
321 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
AA Change: S25P
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000041767 Gene: ENSMUSG00000036281 AA Change: S25P
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: ENSMUST00000077983
|
SMART Domains |
Protein: ENSMUSP00000077133 Gene: ENSMUSG00000026927
Domain | Start | End | E-Value | Type |
coiled coil region
|
186 |
298 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114100
|
SMART Domains |
Protein: ENSMUSP00000109735 Gene: ENSMUSG00000026927
Domain | Start | End | E-Value | Type |
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114102
|
SMART Domains |
Protein: ENSMUSP00000109737 Gene: ENSMUSG00000026927
Domain | Start | End | E-Value | Type |
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114115
AA Change: S33P
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109750 Gene: ENSMUSG00000036281 AA Change: S33P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155643
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144871
|
Meta Mutation Damage Score |
0.0757 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
99% (72/73) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
G |
7: 40,642,885 (GRCm39) |
T185A |
possibly damaging |
Het |
4932414N04Rik |
A |
G |
2: 68,561,453 (GRCm39) |
Y260C |
possibly damaging |
Het |
Adamtsl1 |
G |
A |
4: 86,166,254 (GRCm39) |
G395S |
probably damaging |
Het |
Amn |
T |
C |
12: 111,240,623 (GRCm39) |
L85P |
probably benign |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Apip |
C |
T |
2: 102,917,498 (GRCm39) |
R66C |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
Apol6 |
A |
T |
15: 76,935,471 (GRCm39) |
I247L |
probably benign |
Het |
Arfgap2 |
A |
G |
2: 91,097,540 (GRCm39) |
Q112R |
probably benign |
Het |
Armh1 |
A |
G |
4: 117,088,979 (GRCm39) |
Y139H |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
Cct2 |
C |
T |
10: 116,892,064 (GRCm39) |
G328D |
probably damaging |
Het |
Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
Cers5 |
G |
T |
15: 99,670,100 (GRCm39) |
A54E |
probably damaging |
Het |
Ctdp1 |
T |
A |
18: 80,502,455 (GRCm39) |
M152L |
probably benign |
Het |
Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
Defb36 |
T |
A |
2: 152,454,418 (GRCm39) |
W26R |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,925,136 (GRCm39) |
E3899G |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
Duox1 |
T |
G |
2: 122,168,181 (GRCm39) |
L1102R |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,772,170 (GRCm39) |
S500P |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
Hoxd3 |
A |
G |
2: 74,574,420 (GRCm39) |
Y22C |
probably damaging |
Het |
Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
Il6ra |
A |
G |
3: 89,794,436 (GRCm39) |
V175A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
Marchf10 |
T |
C |
11: 105,273,063 (GRCm39) |
E692G |
probably damaging |
Het |
Mars1 |
G |
A |
10: 127,132,429 (GRCm39) |
T856M |
probably benign |
Het |
Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
Pepd |
G |
A |
7: 34,668,968 (GRCm39) |
R196H |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,219 (GRCm39) |
M367K |
probably benign |
Het |
Prdm4 |
A |
G |
10: 85,746,085 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
Serpina3k |
A |
T |
12: 104,306,981 (GRCm39) |
N71I |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
Smc4 |
T |
C |
3: 68,935,224 (GRCm39) |
V771A |
probably benign |
Het |
Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
Tjp3 |
T |
A |
10: 81,116,951 (GRCm39) |
R193* |
probably null |
Het |
Tm7sf2 |
A |
T |
19: 6,117,230 (GRCm39) |
W58R |
probably damaging |
Het |
Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,377,220 (GRCm39) |
Y2612F |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
Zfp382 |
G |
A |
7: 29,831,054 (GRCm39) |
|
probably null |
Het |
Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
probably damaging |
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 |
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 |
R8777-TAIL: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 |
PCR Primer
(F):5'- CCTGACAGCTAAGACTAAGAAACTG -3'
(R):5'- TGCATTTGAACAGGCTCTTGC -3'
Sequencing Primer
(F):5'- CTGAAACAAACTTTCTTACTGAGGTG -3'
(R):5'- TTGCCACCTCCAGCAAGTG -3'
|
Posted On |
2018-04-02 |