Incidental Mutation 'R5525:Snapc4'
| ID |
431799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc4
|
| Ensembl Gene |
ENSMUSG00000036281 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
| Synonyms |
5730436L13Rik |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26362765-26380653 bp(-) (GRCm38) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ACTGCTGCTGCTGCTGCTGC to ACTGCTGCTGCTGCTGC
at 26369526 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035427]
[ENSMUST00000114115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
| 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: ENSMUST00000135171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 79,099,983 (GRCm38) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,664,391 (GRCm38) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,743,773 (GRCm38) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 52,856,809 (GRCm38) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,527,731 (GRCm38) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,110,447 (GRCm38) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,402,906 (GRCm38) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,239,291 (GRCm38) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,924,018 (GRCm38) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,066,247 (GRCm38) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,227,749 (GRCm38) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,504,872 (GRCm38) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,924,111 (GRCm38) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,792,373 (GRCm38) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm38) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,384,501 (GRCm38) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,745,356 (GRCm38) |
I457L |
probably benign |
Het |
| Or12d13 |
C |
T |
17: 37,336,626 (GRCm38) |
G202D |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 108,367,999 (GRCm38) |
I170V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 87,002,339 (GRCm38) |
E123D |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 25,991,295 (GRCm38) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,923,146 (GRCm38) |
S554T |
probably damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,520 (GRCm38) |
E26G |
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,517,804 (GRCm38) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,185,265 (GRCm38) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,607,293 (GRCm38) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 144,070,109 (GRCm38) |
D277G |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,332,007 (GRCm38) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,412,978 (GRCm38) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,606,614 (GRCm38) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,753,606 (GRCm38) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,357,515 (GRCm38) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm38) |
P2164T |
possibly damaging |
Het |
|
| Other mutations in Snapc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Snapc4
|
APN |
2 |
26,369,312 (GRCm38) |
missense |
probably benign |
|
|
IGL01730:Snapc4
|
APN |
2 |
26,363,724 (GRCm38) |
splice site |
probably null |
|
|
IGL01958:Snapc4
|
APN |
2 |
26,366,440 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02354:Snapc4
|
APN |
2 |
26,367,307 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02425:Snapc4
|
APN |
2 |
26,368,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02812:Snapc4
|
APN |
2 |
26,369,372 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02951:Snapc4
|
APN |
2 |
26,370,835 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0011:Snapc4
|
UTSW |
2 |
26,364,813 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0409:Snapc4
|
UTSW |
2 |
26,367,216 (GRCm38) |
missense |
probably benign |
0.37 |
|
R0932:Snapc4
|
UTSW |
2 |
26,374,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1674:Snapc4
|
UTSW |
2 |
26,376,197 (GRCm38) |
missense |
probably benign |
|
|
R1878:Snapc4
|
UTSW |
2 |
26,376,153 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3722:Snapc4
|
UTSW |
2 |
26,365,428 (GRCm38) |
missense |
probably benign |
|
|
R3886:Snapc4
|
UTSW |
2 |
26,365,498 (GRCm38) |
nonsense |
probably null |
|
|
R3887:Snapc4
|
UTSW |
2 |
26,365,498 (GRCm38) |
nonsense |
probably null |
|
|
R3888:Snapc4
|
UTSW |
2 |
26,365,498 (GRCm38) |
nonsense |
probably null |
|
|
R3889:Snapc4
|
UTSW |
2 |
26,365,498 (GRCm38) |
nonsense |
probably null |
|
|
R4638:Snapc4
|
UTSW |
2 |
26,365,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4663:Snapc4
|
UTSW |
2 |
26,374,181 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4879:Snapc4
|
UTSW |
2 |
26,365,992 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4922:Snapc4
|
UTSW |
2 |
26,369,233 (GRCm38) |
missense |
probably benign |
|
|
R5385:Snapc4
|
UTSW |
2 |
26,374,503 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5762:Snapc4
|
UTSW |
2 |
26,378,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5839:Snapc4
|
UTSW |
2 |
26,365,534 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6300:Snapc4
|
UTSW |
2 |
26,378,551 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6422:Snapc4
|
UTSW |
2 |
26,368,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6843:Snapc4
|
UTSW |
2 |
26,373,599 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7044:Snapc4
|
UTSW |
2 |
26,369,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7341:Snapc4
|
UTSW |
2 |
26,369,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7727:Snapc4
|
UTSW |
2 |
26,373,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7941:Snapc4
|
UTSW |
2 |
26,376,718 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8277:Snapc4
|
UTSW |
2 |
26,365,710 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8311:Snapc4
|
UTSW |
2 |
26,378,534 (GRCm38) |
missense |
probably benign |
|
|
R8323:Snapc4
|
UTSW |
2 |
26,364,699 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8777:Snapc4
|
UTSW |
2 |
26,369,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8777-TAIL:Snapc4
|
UTSW |
2 |
26,369,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8855:Snapc4
|
UTSW |
2 |
26,374,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9069:Snapc4
|
UTSW |
2 |
26,370,793 (GRCm38) |
nonsense |
probably null |
|
|
R9362:Snapc4
|
UTSW |
2 |
26,364,853 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9718:Snapc4
|
UTSW |
2 |
26,378,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9780:Snapc4
|
UTSW |
2 |
26,377,007 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0010:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0011:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0014:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0017:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0033:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Snapc4
|
UTSW |
2 |
26,369,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Snapc4
|
UTSW |
2 |
26,368,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGAGAGGCATCCTGAGTGC -3'
(R):5'- ACTTCTCCATAGGGTGTCCTG -3'
Sequencing Primer
(F):5'- AGGCATCCTGAGTGCAGCAG -3'
(R):5'- CCATAGGGTGTCCTGTTTCTCTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation