Incidental Mutation 'R9718:Snapc4'
| ID |
730580 |
| 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 # |
R9718 (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 26268533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 43
(S43T)
|
| 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 damaging
Transcript: ENSMUST00000035427
AA Change: S35T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
AA Change: S35T
| 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 damaging
Transcript: ENSMUST00000114115
AA Change: S43T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
AA Change: S43T
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
C |
2: 32,465,247 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,206,007 (GRCm39) |
D34E |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| Cbfa2t3 |
T |
A |
8: 123,364,936 (GRCm39) |
D282V |
probably benign |
Het |
| Ccl9 |
T |
A |
11: 83,466,238 (GRCm39) |
N114I |
probably benign |
Het |
| Cdan1 |
G |
T |
2: 120,554,650 (GRCm39) |
A875E |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,726,349 (GRCm39) |
F61L |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,712,801 (GRCm39) |
Y875H |
unknown |
Het |
| Ckap5 |
A |
T |
2: 91,379,177 (GRCm39) |
K39M |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,390,434 (GRCm39) |
H169R |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,560,083 (GRCm39) |
V1416F |
|
Het |
| Cyp4v3 |
A |
T |
8: 45,773,703 (GRCm39) |
H155Q |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,466 (GRCm39) |
F874S |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,450,544 (GRCm39) |
Q719L |
probably benign |
Het |
| Evi2 |
C |
T |
11: 79,406,583 (GRCm39) |
V331M |
probably damaging |
Het |
| Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,545,112 (GRCm39) |
T250N |
probably benign |
Het |
| Ftdc1 |
A |
G |
16: 58,434,974 (GRCm39) |
L117S |
probably benign |
Het |
| Galc |
G |
A |
12: 98,225,573 (GRCm39) |
P6S |
|
Het |
| Gm5134 |
A |
T |
10: 75,828,331 (GRCm39) |
M304L |
possibly damaging |
Het |
| Haao |
T |
C |
17: 84,142,215 (GRCm39) |
E208G |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,904,678 (GRCm39) |
H553Q |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,280 (GRCm39) |
|
probably null |
Het |
| Ighv10-3 |
C |
T |
12: 114,487,254 (GRCm39) |
V56I |
probably benign |
Het |
| Ighv1-62-1 |
G |
T |
12: 115,350,705 (GRCm39) |
A15E |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,378 (GRCm39) |
*249W |
probably null |
Het |
| Ktn1 |
T |
G |
14: 47,910,508 (GRCm39) |
I318R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,572,123 (GRCm39) |
T710A |
unknown |
Het |
| Ldha |
A |
T |
7: 46,504,456 (GRCm39) |
Q326L |
possibly damaging |
Het |
| Map4 |
G |
A |
9: 109,901,774 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
A |
6: 15,770,514 (GRCm39) |
H173Q |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,271,692 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Omd |
T |
C |
13: 49,743,336 (GRCm39) |
S129P |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,914 (GRCm39) |
G110D |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,735,196 (GRCm39) |
V152A |
probably benign |
Het |
| Parp16 |
A |
G |
9: 65,141,009 (GRCm39) |
Y193C |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,763,174 (GRCm39) |
T201A |
|
Het |
| Phldb2 |
T |
A |
16: 45,601,756 (GRCm39) |
H728L |
possibly damaging |
Het |
| Prrt1b |
A |
T |
2: 29,637,548 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,813,641 (GRCm39) |
T514I |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,976,094 (GRCm39) |
D24G |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,080,165 (GRCm39) |
A1410T |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,721 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,243 (GRCm39) |
S156G |
unknown |
Het |
| Rtf1 |
A |
G |
2: 119,535,986 (GRCm39) |
D180G |
possibly damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,490 (GRCm39) |
D108E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,277 (GRCm39) |
D200E |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,616,848 (GRCm39) |
S431G |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,073,472 (GRCm39) |
D773E |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,089,248 (GRCm39) |
L1662P |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,804,328 (GRCm39) |
P829T |
possibly damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,572,496 (GRCm39) |
V679M |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,765 (GRCm39) |
Y69S |
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,663,836 (GRCm39) |
T341M |
unknown |
Het |
| Tjp2 |
A |
C |
19: 24,078,207 (GRCm39) |
S895R |
probably damaging |
Het |
| Tmem220 |
G |
T |
11: 66,916,086 (GRCm39) |
A28S |
probably damaging |
Het |
| Trdv1 |
G |
A |
14: 54,119,663 (GRCm39) |
C109Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,634,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,625,027 (GRCm39) |
M15184V |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,802 (GRCm39) |
Y355F |
probably benign |
Het |
| Vnn3 |
C |
T |
10: 23,745,454 (GRCm39) |
R468* |
probably null |
Het |
| Washc5 |
T |
A |
15: 59,217,192 (GRCm39) |
T792S |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,847,893 (GRCm39) |
M820V |
|
Het |
| Zfp961 |
T |
A |
8: 72,721,933 (GRCm39) |
C149S |
possibly damaging |
Het |
| Zmat4 |
G |
A |
8: 24,238,507 (GRCm39) |
V30M |
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 |
|
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'- AGCCCTGACAGCTAAGACTAAG -3'
(R):5'- GTCTGCATTTGAACAGGCTC -3'
Sequencing Primer
(F):5'- CTGACAGCTAAGACTAAGAAACTG -3'
(R):5'- CTCCAGCAAGTGTGTGTCTGAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation