Incidental Mutation 'IGL02080:Snrnp48'
ID |
283377 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snrnp48
|
Ensembl Gene |
ENSMUSG00000021431 |
Gene Name |
small nuclear ribonucleoprotein 48 (U11/U12) |
Synonyms |
1110050F08Rik, 6530403A03Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL02080
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
38388914-38411641 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38400466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091641]
[ENSMUST00000178564]
|
AlphaFold |
Q9D361 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091641
AA Change: D191G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089230 Gene: ENSMUSG00000021431 AA Change: D191G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
Pfam:zf-U11-48K
|
55 |
79 |
9.9e-13 |
PFAM |
low complexity region
|
292 |
326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178564
|
SMART Domains |
Protein: ENSMUSP00000136202 Gene: ENSMUSG00000021431
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
Pfam:zf-U11-48K
|
54 |
80 |
3.4e-14 |
PFAM |
low complexity region
|
229 |
263 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223680
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223893
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224192
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(7) : Targeted(1) Gene trapped(6)
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
Tmem144 |
G |
A |
3: 79,730,066 (GRCm39) |
|
probably benign |
Het |
Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
Other mutations in Snrnp48 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01011:Snrnp48
|
APN |
13 |
38,404,740 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02635:Snrnp48
|
APN |
13 |
38,393,845 (GRCm39) |
splice site |
probably benign |
|
R0057:Snrnp48
|
UTSW |
13 |
38,400,356 (GRCm39) |
nonsense |
probably null |
|
R1460:Snrnp48
|
UTSW |
13 |
38,395,081 (GRCm39) |
missense |
probably benign |
0.02 |
R1542:Snrnp48
|
UTSW |
13 |
38,404,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R1789:Snrnp48
|
UTSW |
13 |
38,405,336 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2026:Snrnp48
|
UTSW |
13 |
38,393,862 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3419:Snrnp48
|
UTSW |
13 |
38,405,335 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3892:Snrnp48
|
UTSW |
13 |
38,401,365 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4485:Snrnp48
|
UTSW |
13 |
38,400,304 (GRCm39) |
missense |
probably benign |
0.02 |
R4739:Snrnp48
|
UTSW |
13 |
38,393,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Snrnp48
|
UTSW |
13 |
38,405,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Snrnp48
|
UTSW |
13 |
38,389,093 (GRCm39) |
missense |
probably benign |
0.12 |
R5364:Snrnp48
|
UTSW |
13 |
38,394,165 (GRCm39) |
splice site |
probably null |
|
R6124:Snrnp48
|
UTSW |
13 |
38,400,439 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6158:Snrnp48
|
UTSW |
13 |
38,394,212 (GRCm39) |
nonsense |
probably null |
|
R7194:Snrnp48
|
UTSW |
13 |
38,393,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7610:Snrnp48
|
UTSW |
13 |
38,393,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R7749:Snrnp48
|
UTSW |
13 |
38,405,263 (GRCm39) |
missense |
probably benign |
0.00 |
R7844:Snrnp48
|
UTSW |
13 |
38,393,965 (GRCm39) |
missense |
probably null |
1.00 |
R8924:Snrnp48
|
UTSW |
13 |
38,400,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Snrnp48
|
UTSW |
13 |
38,404,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R9599:Snrnp48
|
UTSW |
13 |
38,393,920 (GRCm39) |
missense |
probably benign |
0.45 |
|
Posted On |
2015-04-16 |