Incidental Mutation 'R1246:Gm7361'
| ID |
152150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7361
|
| Ensembl Gene |
ENSMUSG00000059645 |
| Gene Name |
predicted gene 7361 |
| Synonyms |
|
| MMRRC Submission |
039313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
26462689-26469306 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 26466225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 196
(E196*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074148]
|
| AlphaFold |
D3Z6R1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074148
AA Change: E196*
|
| SMART Domains |
Protein: ENSMUSP00000073781
Gene: ENSMUSG00000059645
AA Change: E196*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
134 |
2.1e-26 |
PFAM |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
259 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,803 (GRCm39) |
D71G |
unknown |
Het |
| Gm11563 |
T |
C |
11: 99,549,674 (GRCm39) |
T27A |
unknown |
Het |
| Ltbp1 |
T |
A |
17: 75,692,156 (GRCm39) |
Y1273* |
probably null |
Het |
| Nol8 |
T |
A |
13: 49,830,245 (GRCm39) |
W1110R |
probably damaging |
Het |
| Or52b4 |
T |
A |
7: 102,184,149 (GRCm39) |
L65H |
probably damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,371 (GRCm39) |
L50I |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,086 (GRCm39) |
S254P |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,087,507 (GRCm39) |
W625R |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,489,686 (GRCm39) |
Y631H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,744,257 (GRCm39) |
Y165H |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,439,405 (GRCm39) |
E114G |
possibly damaging |
Het |
| Tubb2b |
G |
A |
13: 34,312,130 (GRCm39) |
T221I |
possibly damaging |
Het |
| Ythdf2 |
G |
A |
4: 131,932,182 (GRCm39) |
T326M |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,765,735 (GRCm39) |
I1421V |
probably benign |
Het |
|
| Other mutations in Gm7361 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02447:Gm7361
|
APN |
5 |
26,462,853 (GRCm39) |
missense |
probably benign |
|
|
IGL02550:Gm7361
|
APN |
5 |
26,466,120 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0011:Gm7361
|
UTSW |
5 |
26,463,876 (GRCm39) |
splice site |
probably benign |
|
|
R0959:Gm7361
|
UTSW |
5 |
26,467,051 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1580:Gm7361
|
UTSW |
5 |
26,462,768 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1654:Gm7361
|
UTSW |
5 |
26,466,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2065:Gm7361
|
UTSW |
5 |
26,467,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Gm7361
|
UTSW |
5 |
26,467,008 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5386:Gm7361
|
UTSW |
5 |
26,463,903 (GRCm39) |
missense |
probably benign |
|
|
R6282:Gm7361
|
UTSW |
5 |
26,465,411 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6391:Gm7361
|
UTSW |
5 |
26,463,960 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6769:Gm7361
|
UTSW |
5 |
26,462,767 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Gm7361
|
UTSW |
5 |
26,466,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7497:Gm7361
|
UTSW |
5 |
26,466,188 (GRCm39) |
missense |
probably benign |
|
|
R7498:Gm7361
|
UTSW |
5 |
26,466,188 (GRCm39) |
missense |
probably benign |
|
|
R7499:Gm7361
|
UTSW |
5 |
26,466,188 (GRCm39) |
missense |
probably benign |
|
|
R8086:Gm7361
|
UTSW |
5 |
26,465,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8325:Gm7361
|
UTSW |
5 |
26,467,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8349:Gm7361
|
UTSW |
5 |
26,465,387 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8449:Gm7361
|
UTSW |
5 |
26,465,387 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Gm7361
|
UTSW |
5 |
26,466,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTCCAGTAACCTGCACAGCC -3'
(R):5'- CACTTGCCAGTGGTAACAGTGTCTC -3'
Sequencing Primer
(F):5'- GATTGGGCCATCATTCACCA -3'
(R):5'- GTCTCAGAAGAGGCTAATTTCCCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation