Incidental Mutation 'R2475:Gm5862'
| ID |
253332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5862
|
| Ensembl Gene |
ENSMUSG00000067700 |
| Gene Name |
predicted gene 5862 |
| Synonyms |
|
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
144 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
26223419-26227889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26224490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 160
(L160F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072286]
|
| AlphaFold |
K7N5V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072286
AA Change: L160F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072133
Gene: ENSMUSG00000067700
AA Change: L160F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
134 |
1.6e-25 |
PFAM |
|
low complexity region
|
154 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
259 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
probably benign |
Het |
|
| Other mutations in Gm5862 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Gm5862
|
APN |
5 |
26,224,514 (GRCm39) |
missense |
probably benign |
|
|
IGL01863:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01868:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01873:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01881:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01902:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01905:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01909:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01917:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01924:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01927:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL01951:Gm5862
|
APN |
5 |
26,227,769 (GRCm39) |
missense |
probably benign |
|
|
IGL03374:Gm5862
|
APN |
5 |
26,224,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3828:Gm5862
|
UTSW |
5 |
26,224,345 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4591:Gm5862
|
UTSW |
5 |
26,224,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6916:Gm5862
|
UTSW |
5 |
26,224,346 (GRCm39) |
missense |
probably benign |
|
|
R8291:Gm5862
|
UTSW |
5 |
26,224,444 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8927:Gm5862
|
UTSW |
5 |
26,226,678 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8928:Gm5862
|
UTSW |
5 |
26,226,678 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9074:Gm5862
|
UTSW |
5 |
26,226,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Gm5862
|
UTSW |
5 |
26,223,485 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGAATTGTTTGTCCCTACCTG -3'
(R):5'- TTGGTGTTTGGACTACAGCC -3'
Sequencing Primer
(F):5'- ACCTGATGTTCTTGAGTCTCCAGG -3'
(R):5'- GGTGTTTGGACTACAGCCAAAATTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation