Incidental Mutation 'R8311:Snapc4'
| ID |
641361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc4
|
| Ensembl Gene |
ENSMUSG00000036281 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
| Synonyms |
5730436L13Rik |
| MMRRC Submission |
067796-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26268546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 38
(F38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000035427]
[ENSMUST00000077983]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000114115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028293
|
| SMART Domains |
Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
209 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
AA Change: F30L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: F30L
| 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: ENSMUST00000077983
|
| SMART Domains |
Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
186 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114100
|
| SMART Domains |
Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114102
|
| SMART Domains |
Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114115
AA Change: F38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: F38L
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,184,815 (GRCm39) |
|
probably benign |
Het |
| 4930407I10Rik |
T |
C |
15: 81,947,440 (GRCm39) |
W446R |
possibly damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,326,479 (GRCm39) |
E912D |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,289,220 (GRCm39) |
D49G |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,194,582 (GRCm39) |
D847E |
possibly damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Copb2 |
G |
T |
9: 98,450,072 (GRCm39) |
K10N |
possibly damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,275 (GRCm39) |
S401P |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,914 (GRCm39) |
Q277L |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,217 (GRCm39) |
S410T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,880,644 (GRCm39) |
N2651S |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,720,489 (GRCm39) |
|
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,124 (GRCm39) |
F113L |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,569,005 (GRCm39) |
T511A |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,087,433 (GRCm39) |
H309R |
possibly damaging |
Het |
| Gga3 |
A |
T |
11: 115,477,834 (GRCm39) |
S585T |
probably benign |
Het |
| Gm12117 |
T |
C |
11: 33,226,126 (GRCm39) |
Q70R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,701 (GRCm39) |
H212R |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,427 (GRCm39) |
F41L |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,480,118 (GRCm39) |
|
probably benign |
Het |
| Itgav |
T |
A |
2: 83,596,121 (GRCm39) |
I214N |
probably damaging |
Het |
| Kcna1 |
T |
A |
6: 126,619,255 (GRCm39) |
H355L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,394,247 (GRCm39) |
V393I |
probably benign |
Het |
| Mak16 |
T |
C |
8: 31,658,697 (GRCm39) |
D4G |
probably damaging |
Het |
| Metap2 |
C |
T |
10: 93,697,384 (GRCm39) |
R432H |
possibly damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,753,540 (GRCm39) |
T281M |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,688,870 (GRCm39) |
Q561L |
probably damaging |
Het |
| Or10ak7 |
A |
C |
4: 118,791,347 (GRCm39) |
S231A |
probably damaging |
Het |
| Or10w3 |
A |
G |
19: 13,704,035 (GRCm39) |
T137A |
possibly damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,482 (GRCm39) |
D462G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,628,282 (GRCm39) |
I1304V |
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,843,343 (GRCm39) |
S354P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,727,299 (GRCm39) |
H391R |
possibly damaging |
Het |
| Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,575,329 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,572 (GRCm39) |
I847L |
probably benign |
Het |
| Rtn1 |
T |
C |
12: 72,350,838 (GRCm39) |
E457G |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,160,730 (GRCm39) |
S420N |
possibly damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,143 (GRCm39) |
V253A |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,973,169 (GRCm39) |
V834A |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,156,969 (GRCm39) |
F2321S |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,075 (GRCm39) |
I641F |
probably damaging |
Het |
| Tmem216 |
A |
T |
19: 10,529,191 (GRCm39) |
F65Y |
probably benign |
Het |
| Tmem37 |
C |
T |
1: 119,995,982 (GRCm39) |
V32M |
possibly damaging |
Het |
| Tmprss11c |
T |
G |
5: 86,383,412 (GRCm39) |
Q338P |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,517,463 (GRCm39) |
S752N |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,518 (GRCm39) |
K224E |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,887,100 (GRCm39) |
V3229D |
probably benign |
Het |
| Vwa5b2 |
C |
T |
16: 20,409,972 (GRCm39) |
R21W |
probably damaging |
Het |
| Wdr37 |
T |
C |
13: 8,903,609 (GRCm39) |
R165G |
unknown |
Het |
| Yars2 |
T |
C |
16: 16,125,147 (GRCm39) |
F388L |
probably benign |
Het |
| Ykt6 |
T |
A |
11: 5,912,366 (GRCm39) |
D106E |
probably benign |
Het |
| Zc3h12a |
A |
C |
4: 125,020,788 (GRCm39) |
S18R |
possibly 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 |
|
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'- GCCCTGACAGCTAAGACTAAG -3'
(R):5'- GTCTGCATTTGAACAGGCTC -3'
Sequencing Primer
(F):5'- CTGAAACAAACTTTCTTACTGAGGTG -3'
(R):5'- TTGCCACCTCCAGCAAGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation