Incidental Mutation 'R4485:Snrnp48'
| ID |
331584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp48
|
| Ensembl Gene |
ENSMUSG00000021431 |
| Gene Name |
small nuclear ribonucleoprotein 48 (U11/U12) |
| Synonyms |
1110050F08Rik, 6530403A03Rik |
| MMRRC Submission |
041741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R4485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38388914-38411641 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38400304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 137
(M137K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091641]
[ENSMUST00000178564]
|
| AlphaFold |
Q9D361 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091641
AA Change: M137K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: M137K
| 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
AA Change: M137K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: M137K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(7) : Targeted(1) Gene trapped(6)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,378,968 (GRCm39) |
I190L |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,745,944 (GRCm39) |
|
probably benign |
Het |
| Apol7b |
C |
A |
15: 77,307,866 (GRCm39) |
V210L |
probably benign |
Het |
| Banf2 |
C |
T |
2: 143,915,772 (GRCm39) |
T71M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,004,590 (GRCm39) |
D130G |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,426,306 (GRCm39) |
F214L |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,099,283 (GRCm39) |
L605S |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,520 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cpb1 |
T |
G |
3: 20,303,865 (GRCm39) |
M400L |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,153,531 (GRCm39) |
I52N |
possibly damaging |
Het |
| Gbp9 |
C |
G |
5: 105,231,674 (GRCm39) |
G304A |
probably damaging |
Het |
| Gm14226 |
G |
A |
2: 154,867,191 (GRCm39) |
V383I |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,864,051 (GRCm39) |
T126A |
probably benign |
Het |
| Npm2 |
A |
T |
14: 70,885,749 (GRCm39) |
V152D |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or56a3 |
T |
A |
7: 104,735,808 (GRCm39) |
V295D |
probably damaging |
Het |
| Or5b107 |
T |
C |
19: 13,142,855 (GRCm39) |
V159A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,919 (GRCm39) |
I195T |
probably benign |
Het |
| Or5p58 |
T |
C |
7: 107,694,222 (GRCm39) |
D185G |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,344 (GRCm39) |
H1601L |
possibly damaging |
Het |
| Plat |
G |
A |
8: 23,262,228 (GRCm39) |
S84N |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,130 (GRCm39) |
D224G |
probably damaging |
Het |
| Psg25 |
C |
A |
7: 18,260,203 (GRCm39) |
V232F |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Pus7l |
G |
T |
15: 94,421,371 (GRCm39) |
H646Q |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,789,581 (GRCm39) |
S1511N |
probably damaging |
Het |
| Slc16a1 |
A |
G |
3: 104,562,794 (GRCm39) |
K413R |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,248,570 (GRCm39) |
H1944L |
possibly damaging |
Het |
| Tmem145 |
A |
G |
7: 25,006,587 (GRCm39) |
E65G |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,678 (GRCm39) |
Y129* |
probably null |
Het |
| Wdr7 |
A |
G |
18: 63,910,621 (GRCm39) |
H671R |
possibly damaging |
Het |
| Zfp219 |
A |
G |
14: 52,244,841 (GRCm39) |
V518A |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,542 (GRCm39) |
W206R |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTTATTGCTGCCTAACC -3'
(R):5'- ACTAACATGCATGAGATGGAGTGAC -3'
Sequencing Primer
(F):5'- GCCTAACCTAATGGAGTCTGTCATG -3'
(R):5'- CCTTGATTGACTTTAGCAGCCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation