Incidental Mutation 'R1878:Snapc4'
| ID |
211278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snapc4
|
| Ensembl Gene |
ENSMUSG00000036281 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 4 |
| Synonyms |
5730436L13Rik |
| MMRRC Submission |
039899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26252777-26270665 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 26266165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035427]
[ENSMUST00000114115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035427
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
| 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: ENSMUST00000114115
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125198
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155643
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,825,564 (GRCm39) |
|
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,228,199 (GRCm39) |
V14A |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,007,362 (GRCm39) |
D950G |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,603,074 (GRCm39) |
D828G |
possibly damaging |
Het |
| Ak2 |
T |
A |
4: 128,895,960 (GRCm39) |
V79D |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,805,020 (GRCm39) |
Y870H |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,134,363 (GRCm39) |
K1222E |
probably damaging |
Het |
| Armc1 |
A |
T |
3: 19,211,708 (GRCm39) |
D37E |
probably damaging |
Het |
| Cenpm |
A |
T |
15: 82,118,616 (GRCm39) |
M166K |
probably benign |
Het |
| Cep97 |
G |
T |
16: 55,725,589 (GRCm39) |
P766Q |
probably damaging |
Het |
| Col19a1 |
G |
T |
1: 24,356,476 (GRCm39) |
D672E |
probably benign |
Het |
| Col6a2 |
T |
C |
10: 76,450,622 (GRCm39) |
D103G |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,460 (GRCm39) |
E484G |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,075,053 (GRCm39) |
D100G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,348,831 (GRCm39) |
I100F |
possibly damaging |
Het |
| Fam222b |
T |
C |
11: 78,034,042 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,420,950 (GRCm39) |
H126Q |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,615,212 (GRCm39) |
D428E |
probably benign |
Het |
| Gfus |
A |
G |
15: 75,797,218 (GRCm39) |
S306P |
probably benign |
Het |
| Gm11564 |
A |
T |
11: 99,706,266 (GRCm39) |
C55S |
unknown |
Het |
| Gne |
T |
C |
4: 44,040,434 (GRCm39) |
I577V |
probably damaging |
Het |
| Gpr4 |
A |
G |
7: 18,957,049 (GRCm39) |
T324A |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,319 (GRCm39) |
N542I |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,858 (GRCm39) |
|
probably null |
Het |
| Irgm1 |
C |
T |
11: 48,756,897 (GRCm39) |
V305I |
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,843 (GRCm39) |
Q73K |
probably benign |
Het |
| Jcad |
C |
A |
18: 4,673,857 (GRCm39) |
H540N |
possibly damaging |
Het |
| Jkamp |
T |
A |
12: 72,140,878 (GRCm39) |
V141D |
possibly damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,522,938 (GRCm39) |
|
probably null |
Het |
| Mcc |
T |
C |
18: 44,601,467 (GRCm39) |
R621G |
possibly damaging |
Het |
| Myd88 |
T |
A |
9: 119,167,686 (GRCm39) |
Q140L |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,028 (GRCm39) |
N323K |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,253,721 (GRCm39) |
R265W |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,169 (GRCm39) |
S256R |
probably damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,400,027 (GRCm39) |
S418A |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,762,489 (GRCm39) |
T269A |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,943,077 (GRCm39) |
N144S |
probably benign |
Het |
| Npvf |
G |
A |
6: 50,631,303 (GRCm39) |
T24I |
probably benign |
Het |
| Obscn |
T |
G |
11: 58,886,379 (GRCm39) |
Y2347S |
probably damaging |
Het |
| Or10d5 |
T |
A |
9: 39,862,053 (GRCm39) |
T5S |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,253 (GRCm39) |
V121A |
probably benign |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,424,501 (GRCm39) |
Q306K |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,265 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,805 (GRCm39) |
T97A |
probably benign |
Het |
| Or51v8 |
A |
C |
7: 103,319,389 (GRCm39) |
M283R |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,639 (GRCm39) |
M200K |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,215 (GRCm39) |
K398N |
possibly damaging |
Het |
| Pcnp |
A |
T |
16: 55,838,850 (GRCm39) |
M143K |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,639 (GRCm39) |
I71V |
probably benign |
Het |
| Ppp4c |
G |
T |
7: 126,386,779 (GRCm39) |
R103S |
probably damaging |
Het |
| Prl2c2 |
T |
A |
13: 13,179,911 (GRCm39) |
M1L |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,785,927 (GRCm39) |
D615E |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,333,461 (GRCm39) |
E728G |
probably damaging |
Het |
| Rps27l |
T |
A |
9: 66,854,911 (GRCm39) |
|
probably null |
Het |
| Scube3 |
T |
A |
17: 28,371,387 (GRCm39) |
V34E |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,623,089 (GRCm39) |
I154T |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,411,381 (GRCm39) |
L782F |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,289,398 (GRCm39) |
V36A |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,115,064 (GRCm39) |
R350S |
probably damaging |
Het |
| Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,436,300 (GRCm39) |
A1217T |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,898,423 (GRCm39) |
S1018P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,755 (GRCm39) |
E117G |
possibly damaging |
Het |
| Syt17 |
A |
T |
7: 118,033,468 (GRCm39) |
M180K |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,516 (GRCm39) |
S18P |
possibly damaging |
Het |
| Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,548,561 (GRCm39) |
H611P |
probably damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,989 (GRCm39) |
C437S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,891 (GRCm39) |
E440G |
probably damaging |
Het |
| Zfp764 |
C |
A |
7: 127,004,214 (GRCm39) |
A306S |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,356 (GRCm39) |
S309T |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,939,405 (GRCm39) |
N826D |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGCTAGACTCAGCCTGAAC -3'
(R):5'- CCATCTGGGCAGTACATGAG -3'
Sequencing Primer
(F):5'- CCACTCAACACTGGAGAGGG -3'
(R):5'- CTGGGCAGTACATGAGGAGGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation