Incidental Mutation 'R9362:Snapc4'
ID |
708732 |
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 # |
R9362 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26254865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 1220
(N1220Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028294]
[ENSMUST00000035427]
[ENSMUST00000114115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028294
|
SMART Domains |
Protein: ENSMUSP00000028294 Gene: ENSMUSG00000026928
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
11 |
97 |
3.1e-21 |
PFAM |
coiled coil region
|
145 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
375 |
415 |
N/A |
INTRINSIC |
low complexity region
|
482 |
494 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035427
AA Change: N1212Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041767 Gene: ENSMUSG00000036281 AA Change: N1212Y
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 damaging
Transcript: ENSMUST00000114115
AA Change: N1220Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109750 Gene: ENSMUSG00000036281 AA Change: N1220Y
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (41/41) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,236,626 (GRCm39) |
N798I |
possibly damaging |
Het |
Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
Arhgef17 |
A |
C |
7: 100,580,165 (GRCm39) |
L261R |
probably benign |
Het |
Bcr |
C |
A |
10: 74,993,023 (GRCm39) |
N839K |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,011,162 (GRCm39) |
T1786A |
probably benign |
Het |
Bmpr1a |
A |
G |
14: 34,156,360 (GRCm39) |
I169T |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Ccdc88a |
T |
A |
11: 29,453,922 (GRCm39) |
L1695Q |
probably null |
Het |
Cnr1 |
T |
C |
4: 33,944,038 (GRCm39) |
I142T |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Elmod1 |
T |
A |
9: 53,833,304 (GRCm39) |
D167V |
possibly damaging |
Het |
Fam136a |
C |
T |
6: 86,345,855 (GRCm39) |
T124I |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,623,064 (GRCm39) |
D70G |
probably benign |
Het |
Ggcx |
T |
G |
6: 72,405,015 (GRCm39) |
N474K |
probably damaging |
Het |
Gm10295 |
C |
A |
7: 71,000,755 (GRCm39) |
|
probably benign |
Het |
Gm5145 |
A |
G |
17: 20,791,342 (GRCm39) |
H240R |
probably damaging |
Het |
Gsr |
A |
T |
8: 34,179,406 (GRCm39) |
D338V |
probably damaging |
Het |
Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,062 (GRCm39) |
I473N |
probably benign |
Het |
Ighv5-8 |
A |
T |
12: 113,616,940 (GRCm39) |
D107E |
probably benign |
Het |
Il23r |
T |
A |
6: 67,400,384 (GRCm39) |
S649C |
probably damaging |
Het |
Ltbp3 |
A |
G |
19: 5,803,697 (GRCm39) |
D794G |
probably benign |
Het |
Mapk3 |
A |
G |
7: 126,363,444 (GRCm39) |
I273V |
|
Het |
Mycbp2 |
C |
T |
14: 103,497,642 (GRCm39) |
V977I |
probably damaging |
Het |
Myh7 |
A |
G |
14: 55,222,932 (GRCm39) |
F758L |
probably benign |
Het |
Myom1 |
A |
T |
17: 71,343,288 (GRCm39) |
I162F |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,095,265 (GRCm39) |
C1541Y |
|
Het |
Nwd2 |
G |
T |
5: 63,961,747 (GRCm39) |
D444Y |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,482,391 (GRCm39) |
Y160H |
probably benign |
Het |
Or8u8 |
C |
A |
2: 86,011,732 (GRCm39) |
C241F |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Sall2 |
T |
A |
14: 52,550,601 (GRCm39) |
K865* |
probably null |
Het |
Shank2 |
A |
T |
7: 143,963,271 (GRCm39) |
D293V |
probably damaging |
Het |
Sidt1 |
T |
C |
16: 44,078,316 (GRCm39) |
Y649C |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,304,236 (GRCm39) |
E154G |
probably damaging |
Het |
Slc5a12 |
C |
T |
2: 110,447,044 (GRCm39) |
T184I |
probably damaging |
Het |
Slfn3 |
T |
C |
11: 83,103,807 (GRCm39) |
I226T |
probably benign |
Het |
Tars1 |
A |
G |
15: 11,387,616 (GRCm39) |
C557R |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,881,740 (GRCm39) |
E402G |
probably damaging |
Het |
Zfp37 |
G |
A |
4: 62,110,299 (GRCm39) |
S296F |
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 |
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 |
|
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'- ACTGTCTAGCCCTATCCTTGAG -3'
(R):5'- ATCGTCACATGGCTGAAGG -3'
Sequencing Primer
(F):5'- TTGAGCTCCAAGTCACCGAG -3'
(R):5'- GAGCAGGATGCCCTATCATC -3'
|
Posted On |
2022-04-18 |