Incidental Mutation 'R9780:Snapc4'
| ID |
733950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc4
|
| Ensembl Gene |
ENSMUSG00000036281 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
| Synonyms |
5730436L13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9780 (G1)
|
| 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 T
at 26267019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 77
(N77K)
|
| 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: N69K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: N69K
| 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: N77K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: N77K
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,911,447 (GRCm39) |
T1344A |
probably benign |
Het |
| Actrt3 |
T |
A |
3: 30,652,876 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,482,196 (GRCm39) |
S915P |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,209,358 (GRCm39) |
F281I |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,059,102 (GRCm39) |
V148A |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,954,426 (GRCm39) |
I256T |
probably benign |
Het |
| Bloc1s3 |
G |
A |
7: 19,241,408 (GRCm39) |
S40L |
possibly damaging |
Het |
| Cep68 |
G |
A |
11: 20,192,142 (GRCm39) |
P19L |
probably benign |
Het |
| Chst9 |
T |
A |
18: 15,586,221 (GRCm39) |
Q114L |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,545,536 (GRCm39) |
F106I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,258,123 (GRCm39) |
E2123G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,756,556 (GRCm39) |
D1187G |
probably benign |
Het |
| Dhx8 |
A |
T |
11: 101,632,403 (GRCm39) |
D454V |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,766,398 (GRCm39) |
L310H |
probably damaging |
Het |
| Ergic3 |
C |
A |
2: 155,853,164 (GRCm39) |
Y202* |
probably null |
Het |
| Fam117a |
A |
T |
11: 95,268,309 (GRCm39) |
I237L |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,613,743 (GRCm39) |
M773V |
probably benign |
Het |
| Gcnt4 |
T |
A |
13: 97,083,948 (GRCm39) |
S415T |
probably benign |
Het |
| Hacl1 |
C |
A |
14: 31,362,519 (GRCm39) |
V43L |
possibly damaging |
Het |
| Hbb-bh2 |
A |
G |
7: 103,489,624 (GRCm39) |
L4P |
probably damaging |
Het |
| Hmbs |
A |
G |
9: 44,247,985 (GRCm39) |
L357P |
probably damaging |
Het |
| Hpcal1 |
A |
G |
12: 17,836,494 (GRCm39) |
Y108C |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,490,741 (GRCm39) |
M482K |
probably damaging |
Het |
| Ifi27l2b |
G |
T |
12: 103,417,461 (GRCm39) |
P242Q |
unknown |
Het |
| Insyn1 |
A |
G |
9: 58,406,881 (GRCm39) |
N264D |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,487,795 (GRCm39) |
V2407A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,440,178 (GRCm39) |
F154S |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,233 (GRCm39) |
S403P |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,360,500 (GRCm39) |
A334V |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,025,824 (GRCm39) |
T933S |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,747,253 (GRCm39) |
Y468C |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,582,342 (GRCm39) |
Y510C |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,064,613 (GRCm39) |
K235R |
|
Het |
| Nek2 |
A |
T |
1: 191,554,738 (GRCm39) |
D150V |
probably damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,898 (GRCm39) |
R205L |
possibly damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,260 (GRCm39) |
F122S |
possibly damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,931,042 (GRCm39) |
V718A |
possibly damaging |
Het |
| Oplah |
A |
G |
15: 76,181,940 (GRCm39) |
I1061T |
probably damaging |
Het |
| Or13e8 |
G |
A |
4: 43,697,193 (GRCm39) |
|
probably benign |
Het |
| Or2y16 |
G |
A |
11: 49,335,014 (GRCm39) |
C112Y |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,631 (GRCm39) |
S104P |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,426 (GRCm39) |
L198P |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,313,313 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,094,794 (GRCm39) |
E55K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,141,030 (GRCm39) |
V46A |
probably benign |
Het |
| Plce1 |
T |
G |
19: 38,609,134 (GRCm39) |
L481R |
possibly damaging |
Het |
| Psma7 |
A |
T |
2: 179,678,339 (GRCm39) |
Y228N |
unknown |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,796 (GRCm39) |
Y380N |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,551 (GRCm39) |
E677V |
probably damaging |
Het |
| Scgb2b11 |
A |
G |
7: 31,909,861 (GRCm39) |
L75P |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,235 (GRCm39) |
V775A |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,016,999 (GRCm39) |
D34G |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,862,591 (GRCm39) |
D430V |
probably damaging |
Het |
| Stk32a |
T |
G |
18: 43,375,049 (GRCm39) |
F20V |
probably benign |
Het |
| Taf1b |
G |
A |
12: 24,564,818 (GRCm39) |
G145D |
probably damaging |
Het |
| Tomt |
G |
C |
7: 101,549,536 (GRCm39) |
Q251E |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,565,761 (GRCm39) |
E471K |
probably damaging |
Het |
| Ttll9 |
G |
A |
2: 152,836,023 (GRCm39) |
A256T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,774,289 (GRCm39) |
C2252S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,785,035 (GRCm39) |
D797E |
unknown |
Het |
| Usf3 |
T |
A |
16: 44,039,181 (GRCm39) |
N1220K |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,050,069 (GRCm39) |
H355Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,442 (GRCm39) |
V432E |
possibly damaging |
Het |
| Vtn |
A |
C |
11: 78,393,003 (GRCm39) |
D456A |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,945,359 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfhx2 |
C |
A |
14: 55,312,494 (GRCm39) |
D67Y |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 67,665,241 (GRCm39) |
H407R |
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 |
|
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 |
|
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'- CTGGGAACTTGATCCTGTGG -3'
(R):5'- AGCTTGAGGATGATGGGCTC -3'
Sequencing Primer
(F):5'- CACTGAGGGTCATGAGGGGTTATAC -3'
(R):5'- GATGATGGGCTCTGTATAACTTCTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation