Incidental Mutation 'IGL01730:Snapc4'
ID |
105440 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snapc4
|
Ensembl Gene |
ENSMUSG00000036281 |
Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
Synonyms |
5730436L13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01730
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 26253736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028294]
[ENSMUST00000035427]
[ENSMUST00000100303]
[ENSMUST00000114115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 benign
Transcript: ENSMUST00000035427
AA Change: D1304E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041767 Gene: ENSMUSG00000036281 AA Change: D1304E
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 null
Transcript: ENSMUST00000100303
|
SMART Domains |
Protein: ENSMUSP00000097876 Gene: ENSMUSG00000026928
Domain | Start | End | E-Value | Type |
Pfam:CARD
|
11 |
97 |
7.1e-22 |
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 |
possibly damaging
Transcript: ENSMUST00000114115
AA Change: D1312E
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109750 Gene: ENSMUSG00000036281 AA Change: D1312E
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 |
noncoding transcript
Transcript: ENSMUST00000125198
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136054
|
Coding Region Coverage |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
A |
G |
5: 36,119,583 (GRCm39) |
E287G |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,761,917 (GRCm39) |
V122E |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,147,302 (GRCm39) |
I585T |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,861,841 (GRCm39) |
S645P |
probably benign |
Het |
Derl1 |
A |
T |
15: 57,755,543 (GRCm39) |
F50Y |
possibly damaging |
Het |
Dhrs3 |
T |
C |
4: 144,646,042 (GRCm39) |
S117P |
probably damaging |
Het |
E2f8 |
A |
T |
7: 48,527,682 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,154,894 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
A |
G |
18: 84,982,299 (GRCm39) |
I250M |
probably benign |
Het |
Ghr |
A |
T |
15: 3,350,066 (GRCm39) |
S371T |
probably damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,669 (GRCm39) |
|
noncoding transcript |
Het |
Grhl2 |
T |
C |
15: 37,338,018 (GRCm39) |
V496A |
probably benign |
Het |
Gsap |
A |
G |
5: 21,495,152 (GRCm39) |
|
probably benign |
Het |
Irak3 |
T |
C |
10: 120,014,005 (GRCm39) |
D148G |
probably benign |
Het |
Itga2 |
A |
T |
13: 114,990,947 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
C |
14: 64,987,810 (GRCm39) |
|
probably null |
Het |
Kif20b |
A |
T |
19: 34,927,923 (GRCm39) |
K1022* |
probably null |
Het |
Klhl17 |
G |
T |
4: 156,316,157 (GRCm39) |
S399* |
probably null |
Het |
Lcp2 |
A |
T |
11: 34,000,943 (GRCm39) |
D42V |
possibly damaging |
Het |
Lin7c |
G |
T |
2: 109,726,785 (GRCm39) |
G145* |
probably null |
Het |
Lrba |
A |
G |
3: 86,648,731 (GRCm39) |
D2493G |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,996,992 (GRCm39) |
D41G |
probably damaging |
Het |
Mycbp2 |
G |
A |
14: 103,372,640 (GRCm39) |
Q785* |
probably null |
Het |
Myl6b |
T |
C |
10: 128,332,211 (GRCm39) |
Y85C |
possibly damaging |
Het |
Nup133 |
G |
T |
8: 124,664,972 (GRCm39) |
H240N |
probably benign |
Het |
Or5b12 |
A |
C |
19: 12,896,926 (GRCm39) |
F249C |
probably damaging |
Het |
Plk4 |
T |
C |
3: 40,760,285 (GRCm39) |
S394P |
probably benign |
Het |
Prepl |
A |
G |
17: 85,388,603 (GRCm39) |
Y167H |
possibly damaging |
Het |
Prkab1 |
A |
G |
5: 116,159,551 (GRCm39) |
L105P |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,616,728 (GRCm39) |
I3897L |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,916,434 (GRCm39) |
S469G |
probably benign |
Het |
Serpinb3c |
T |
A |
1: 107,200,914 (GRCm39) |
S168C |
probably damaging |
Het |
Sorcs2 |
A |
T |
5: 36,205,153 (GRCm39) |
M528K |
probably damaging |
Het |
Spink10 |
T |
A |
18: 62,784,816 (GRCm39) |
|
probably null |
Het |
Tent5b |
A |
T |
4: 133,213,833 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
A |
6: 12,554,980 (GRCm39) |
Q301H |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,797,252 (GRCm39) |
F335I |
possibly damaging |
Het |
Tshr |
A |
T |
12: 91,486,077 (GRCm39) |
D217V |
possibly damaging |
Het |
Ttyh1 |
G |
A |
7: 4,128,720 (GRCm39) |
V206M |
possibly damaging |
Het |
Tusc3 |
T |
G |
8: 39,617,880 (GRCm39) |
*348G |
probably null |
Het |
Vmn2r76 |
G |
A |
7: 85,879,406 (GRCm39) |
T298I |
probably benign |
Het |
Wdr47 |
T |
C |
3: 108,518,712 (GRCm39) |
F67L |
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 |
|
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 |
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 |
|
Posted On |
2014-01-21 |