Incidental Mutation 'R6124:Snrnp48'
| ID |
485888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp48
|
| Ensembl Gene |
ENSMUSG00000021431 |
| Gene Name |
small nuclear ribonucleoprotein 48 (U11/U12) |
| Synonyms |
1110050F08Rik, 6530403A03Rik |
| MMRRC Submission |
044271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38388914-38411641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38400439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 182
(I182N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091641]
[ENSMUST00000178564]
|
| AlphaFold |
Q9D361 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091641
AA Change: I182N
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: I182N
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(1) Gene trapped(6)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,331,622 (GRCm39) |
N864S |
probably benign |
Het |
| Ank2 |
C |
T |
3: 127,041,800 (GRCm39) |
V35M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,142,185 (GRCm39) |
M368T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,365,515 (GRCm39) |
T413M |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,397 (GRCm39) |
L86P |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,547,691 (GRCm39) |
Y598C |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,073,260 (GRCm39) |
N2428D |
probably benign |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,125,396 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9913 |
T |
A |
2: 125,348,393 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,201,728 (GRCm39) |
N287S |
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,549,300 (GRCm39) |
N181K |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,483,613 (GRCm39) |
T142A |
probably benign |
Het |
| Klrh1 |
A |
T |
6: 129,745,098 (GRCm39) |
F166Y |
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,365 (GRCm39) |
P106Q |
probably damaging |
Het |
| Lonrf1 |
T |
A |
8: 36,696,354 (GRCm39) |
N565I |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,936 (GRCm39) |
S349P |
probably benign |
Het |
| Mcee |
T |
A |
7: 64,050,023 (GRCm39) |
N51K |
probably damaging |
Het |
| Mfsd6 |
A |
C |
1: 52,747,411 (GRCm39) |
F485V |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nlrp6 |
T |
A |
7: 140,503,160 (GRCm39) |
V422E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,000,610 (GRCm39) |
H42Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,969,870 (GRCm39) |
S91T |
probably benign |
Het |
| Or10ak13 |
C |
A |
4: 118,639,392 (GRCm39) |
C130F |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,097,846 (GRCm39) |
Y35N |
probably damaging |
Het |
| Or13a20 |
A |
T |
7: 140,232,507 (GRCm39) |
D205V |
probably damaging |
Het |
| Or5p72 |
A |
T |
7: 108,022,725 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,446 (GRCm39) |
I154V |
probably benign |
Het |
| Papss2 |
T |
A |
19: 32,614,528 (GRCm39) |
N81K |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,309,696 (GRCm39) |
I147T |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 100,980,405 (GRCm39) |
E312K |
probably damaging |
Het |
| Serpinb1b |
T |
C |
13: 33,277,796 (GRCm39) |
V343A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,860,544 (GRCm39) |
N261S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,133,116 (GRCm39) |
N310S |
probably damaging |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Tppp2 |
A |
T |
14: 52,156,937 (GRCm39) |
T105S |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vmn1r19 |
A |
C |
6: 57,381,602 (GRCm39) |
M52L |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,321 (GRCm39) |
R656S |
probably benign |
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 |
|
IGL02080:Snrnp48
|
APN |
13 |
38,400,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTATTGTAAGAGTGAGTCCACG -3'
(R):5'- GTCCTACGTAACAGCATCAATG -3'
Sequencing Primer
(F):5'- GTGAGTCCACGTGCTTCAC -3'
(R):5'- TGCATGAGATGGAGTGAC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation