Incidental Mutation 'R4879:Snapc4'
ID |
375105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snapc4
|
Ensembl Gene |
ENSMUSG00000036281 |
Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
Synonyms |
5730436L13Rik |
MMRRC Submission |
042488-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4879 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26256004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 840
(S840N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035427]
[ENSMUST00000114115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035427
AA Change: S832N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041767 Gene: ENSMUSG00000036281 AA Change: S832N
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 |
possibly damaging
Transcript: ENSMUST00000114115
AA Change: S840N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109750 Gene: ENSMUSG00000036281 AA Change: S840N
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: ENSMUST00000135171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149316
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137869
|
Meta Mutation Damage Score |
0.1240 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
97% (86/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,110,526 (GRCm39) |
Y541F |
probably damaging |
Het |
Acot12 |
T |
A |
13: 91,911,083 (GRCm39) |
V136E |
probably benign |
Het |
Aftph |
A |
G |
11: 20,648,311 (GRCm39) |
|
probably null |
Het |
Ambra1 |
C |
T |
2: 91,603,039 (GRCm39) |
|
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ano9 |
T |
C |
7: 140,690,415 (GRCm39) |
D73G |
probably benign |
Het |
Asap3 |
G |
A |
4: 135,969,975 (GRCm39) |
D778N |
probably benign |
Het |
Atp8a2 |
G |
T |
14: 60,245,918 (GRCm39) |
Y591* |
probably null |
Het |
Blk |
T |
C |
14: 63,613,414 (GRCm39) |
T365A |
probably benign |
Het |
C4b |
G |
T |
17: 34,962,621 (GRCm39) |
S27Y |
probably damaging |
Het |
C6 |
G |
T |
15: 4,833,129 (GRCm39) |
|
probably null |
Het |
Ccdc33 |
T |
A |
9: 57,974,839 (GRCm39) |
I345F |
possibly damaging |
Het |
Cetn3 |
T |
A |
13: 81,940,268 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
T |
A |
6: 102,244,389 (GRCm39) |
I387L |
possibly damaging |
Het |
Cog8 |
A |
G |
8: 107,782,984 (GRCm39) |
C102R |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,456,321 (GRCm39) |
I789T |
probably benign |
Het |
Cyp2c55 |
CA |
C |
19: 39,030,522 (GRCm39) |
|
probably null |
Het |
Defa40 |
T |
A |
8: 21,740,380 (GRCm39) |
L62Q |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,022,534 (GRCm39) |
A1624V |
probably damaging |
Het |
Dnah1 |
T |
G |
14: 31,022,705 (GRCm39) |
E1144A |
possibly damaging |
Het |
Dnah12 |
T |
A |
14: 26,439,201 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
A |
11: 69,367,517 (GRCm39) |
T1794I |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,953,019 (GRCm39) |
|
probably null |
Het |
Erbin |
A |
T |
13: 103,971,282 (GRCm39) |
M778K |
probably benign |
Het |
Fbxw10 |
G |
T |
11: 62,738,573 (GRCm39) |
A156S |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,460,805 (GRCm39) |
F2632Y |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,534,628 (GRCm39) |
K160E |
probably damaging |
Het |
Glipr1l2 |
A |
G |
10: 111,943,029 (GRCm39) |
K295E |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,370,119 (GRCm39) |
C465* |
probably null |
Het |
Hoxb4 |
A |
G |
11: 96,211,014 (GRCm39) |
I205V |
probably damaging |
Het |
Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
Il36a |
A |
G |
2: 24,106,032 (GRCm39) |
N29S |
probably benign |
Het |
Ilk |
A |
G |
7: 105,391,011 (GRCm39) |
S292G |
probably benign |
Het |
Itgb5 |
G |
C |
16: 33,696,348 (GRCm39) |
G180R |
probably damaging |
Het |
Josd1-ps |
T |
C |
7: 27,648,768 (GRCm39) |
|
noncoding transcript |
Het |
Kcnip4 |
T |
C |
5: 48,567,207 (GRCm39) |
D120G |
possibly damaging |
Het |
Kin |
A |
G |
2: 10,085,455 (GRCm39) |
D5G |
probably benign |
Het |
Lrrtm2 |
C |
A |
18: 35,346,372 (GRCm39) |
G310V |
probably damaging |
Het |
Med1 |
T |
C |
11: 98,046,186 (GRCm39) |
|
probably benign |
Het |
Mepce |
C |
A |
5: 137,783,544 (GRCm39) |
|
probably benign |
Het |
Nckipsd |
T |
A |
9: 108,691,114 (GRCm39) |
|
probably benign |
Het |
Notch3 |
T |
A |
17: 32,366,937 (GRCm39) |
Q866L |
probably benign |
Het |
Or52b4 |
A |
T |
7: 102,183,962 (GRCm39) |
T3S |
probably benign |
Het |
Or5l14 |
A |
T |
2: 87,793,040 (GRCm39) |
H65Q |
possibly damaging |
Het |
Or8k20 |
A |
T |
2: 86,106,107 (GRCm39) |
C241* |
probably null |
Het |
Orai1 |
T |
C |
5: 123,149,894 (GRCm39) |
|
probably benign |
Het |
Pate12 |
G |
A |
9: 36,344,089 (GRCm39) |
C24Y |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
Pcnx4 |
G |
A |
12: 72,613,959 (GRCm39) |
D635N |
probably damaging |
Het |
Pex5 |
T |
C |
6: 124,375,322 (GRCm39) |
I567V |
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,328,390 (GRCm39) |
S485P |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,087 (GRCm39) |
Y356C |
probably damaging |
Het |
Sdcbp |
T |
C |
4: 6,381,056 (GRCm39) |
I67T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,583,679 (GRCm39) |
I537T |
probably benign |
Het |
Slc66a1 |
A |
T |
4: 139,029,095 (GRCm39) |
|
probably null |
Het |
Smad4 |
A |
G |
18: 73,774,974 (GRCm39) |
C442R |
probably damaging |
Het |
Smpd5 |
A |
G |
15: 76,179,070 (GRCm39) |
H146R |
possibly damaging |
Het |
Snai2 |
A |
G |
16: 14,524,605 (GRCm39) |
Y37C |
probably benign |
Het |
Stpg2 |
T |
C |
3: 138,921,134 (GRCm39) |
I113T |
probably benign |
Het |
Tbc1d32 |
T |
C |
10: 55,925,125 (GRCm39) |
|
probably null |
Het |
Tfg |
A |
T |
16: 56,521,520 (GRCm39) |
S39R |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,116,236 (GRCm39) |
S1330T |
possibly damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,881,321 (GRCm39) |
T322A |
probably benign |
Het |
Tpra1 |
A |
G |
6: 88,888,691 (GRCm39) |
Y291C |
probably damaging |
Het |
Trcg1 |
A |
G |
9: 57,154,003 (GRCm39) |
D658G |
probably damaging |
Het |
Trip4 |
C |
T |
9: 65,782,304 (GRCm39) |
V143I |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,033,084 (GRCm39) |
K1691E |
probably damaging |
Het |
Ttc8 |
T |
A |
12: 98,908,562 (GRCm39) |
M77K |
possibly damaging |
Het |
Tubb2a |
A |
T |
13: 34,258,572 (GRCm39) |
M406K |
probably benign |
Het |
Txnrd1 |
T |
A |
10: 82,717,751 (GRCm39) |
|
probably null |
Het |
Ugt2a3 |
C |
A |
5: 87,479,144 (GRCm39) |
R268L |
probably benign |
Het |
Usp34 |
T |
G |
11: 23,323,410 (GRCm39) |
M982R |
possibly damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,102 (GRCm39) |
K370N |
probably benign |
Het |
Vopp1 |
A |
T |
6: 57,739,355 (GRCm39) |
|
probably benign |
Het |
Vps11 |
A |
C |
9: 44,264,597 (GRCm39) |
C660G |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,926,338 (GRCm39) |
H1137R |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,188,322 (GRCm39) |
Y193H |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,009,444 (GRCm39) |
V470D |
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 |
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 |
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'- AGCTGGCTGTTGAGACCAAG -3'
(R):5'- AGCCAGTCTTTCATAGTCGG -3'
Sequencing Primer
(F):5'- CTGTTGAGACCAAGAGCCTG -3'
(R):5'- CAGTCTTTCATAGTCGGGCTGC -3'
|
Posted On |
2016-03-17 |