Incidental Mutation 'R4922:Snapc4'
ID |
378669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc4
|
Ensembl Gene |
ENSMUSG00000036281 |
Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
Synonyms |
5730436L13Rik |
MMRRC Submission |
042524-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4922 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26259245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 635
(V635A)
|
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: V627A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041767 Gene: ENSMUSG00000036281 AA Change: V627A
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: V635A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109750 Gene: ENSMUSG00000036281 AA Change: V635A
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: ENSMUST00000125198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149316
|
Meta Mutation Damage Score |
0.0595 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (76/78) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
T |
4: 129,901,645 (GRCm39) |
C423F |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,220 (GRCm39) |
Y722* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,727,570 (GRCm39) |
H396R |
possibly damaging |
Het |
Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,467,934 (GRCm39) |
R1755S |
probably damaging |
Het |
Atf7ip |
A |
T |
6: 136,537,039 (GRCm39) |
T91S |
possibly damaging |
Het |
Bcl2 |
C |
A |
1: 106,640,376 (GRCm39) |
A79S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,314 (GRCm39) |
I2564K |
probably damaging |
Het |
Bmerb1 |
A |
G |
16: 13,804,683 (GRCm39) |
H10R |
possibly damaging |
Het |
Bmp10 |
C |
T |
6: 87,410,557 (GRCm39) |
P117S |
probably benign |
Het |
Bmpr2 |
A |
G |
1: 59,906,583 (GRCm39) |
T559A |
probably benign |
Het |
Cd200r1 |
A |
T |
16: 44,610,039 (GRCm39) |
Y86F |
probably damaging |
Het |
Cemip |
T |
A |
7: 83,596,308 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,394,116 (GRCm39) |
V335A |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,822,548 (GRCm39) |
|
probably null |
Het |
Chml |
T |
C |
1: 175,514,712 (GRCm39) |
H60R |
possibly damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Clec12a |
A |
G |
6: 129,336,441 (GRCm39) |
Y201C |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,258,719 (GRCm39) |
V370A |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,351,538 (GRCm39) |
I353T |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,230,667 (GRCm39) |
V470E |
probably benign |
Het |
Cyp4a10 |
C |
A |
4: 115,378,291 (GRCm39) |
Q126K |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,652 (GRCm39) |
S249P |
probably damaging |
Het |
Dnase2a |
A |
G |
8: 85,635,625 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
C |
1: 123,305,882 (GRCm39) |
N490S |
probably benign |
Het |
Drgx |
A |
T |
14: 32,330,363 (GRCm39) |
N160I |
probably damaging |
Het |
Enc1 |
C |
T |
13: 97,382,243 (GRCm39) |
A251V |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,562,434 (GRCm39) |
V1258A |
probably benign |
Het |
Fancm |
G |
A |
12: 65,153,666 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
C |
T |
14: 65,536,657 (GRCm39) |
T177I |
probably benign |
Het |
Gm1965 |
T |
C |
6: 89,123,525 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
A |
T |
10: 93,339,401 (GRCm39) |
M497L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,497,378 (GRCm39) |
L3936S |
possibly damaging |
Het |
Hs3st4 |
G |
T |
7: 123,996,410 (GRCm39) |
G359W |
probably damaging |
Het |
Il6st |
C |
T |
13: 112,639,399 (GRCm39) |
P608L |
probably damaging |
Het |
Kctd18 |
A |
C |
1: 58,004,707 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,940,309 (GRCm39) |
S1636T |
probably damaging |
Het |
Lrrn1 |
A |
T |
6: 107,545,311 (GRCm39) |
S370C |
probably damaging |
Het |
Mtcl1 |
A |
C |
17: 66,655,474 (GRCm39) |
C968G |
probably benign |
Het |
Mylip |
G |
A |
13: 45,562,238 (GRCm39) |
A347T |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,252 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
A |
1: 93,950,200 (GRCm39) |
V53E |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,680,687 (GRCm39) |
I302V |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,576 (GRCm39) |
C100S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,811 (GRCm39) |
L243Q |
possibly damaging |
Het |
Otos |
T |
C |
1: 92,572,090 (GRCm39) |
T79A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,122,009 (GRCm39) |
I578T |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prex2 |
C |
T |
1: 11,240,164 (GRCm39) |
P927S |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,116 (GRCm39) |
K1873N |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,887,417 (GRCm39) |
|
probably null |
Het |
Reln |
T |
A |
5: 22,200,585 (GRCm39) |
|
probably null |
Het |
Rgl2 |
A |
G |
17: 34,151,749 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,063 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,724,849 (GRCm39) |
E2488G |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,379,664 (GRCm39) |
M1056K |
possibly damaging |
Het |
Snx19 |
T |
A |
9: 30,348,763 (GRCm39) |
Y101N |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,925,746 (GRCm39) |
|
probably null |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speer4a2 |
A |
T |
5: 26,289,791 (GRCm39) |
I212N |
probably damaging |
Het |
Tmem30b |
G |
A |
12: 73,592,488 (GRCm39) |
P209L |
probably damaging |
Het |
Trbv12-2 |
G |
T |
6: 41,096,081 (GRCm39) |
C52F |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,819,343 (GRCm39) |
D1304V |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,214,183 (GRCm39) |
Y487C |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,090,811 (GRCm39) |
N134K |
probably damaging |
Het |
Wdr27 |
C |
A |
17: 15,141,016 (GRCm39) |
|
probably null |
Het |
Wdr75 |
T |
C |
1: 45,855,638 (GRCm39) |
F430L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,211,299 (GRCm39) |
I170T |
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 |
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 |
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'- GCTTTTGCCAGGTCAGAAACC -3'
(R):5'- TCCTCAACAGTACAGAGTGCCAG -3'
Sequencing Primer
(F):5'- CTGCCACACTGTCCAGAG -3'
(R):5'- AGTGCCAGACATTGACCTGTG -3'
|
Posted On |
2016-04-15 |