Incidental Mutation 'R5491:Gm12695'
| ID |
432080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12695
|
| Ensembl Gene |
ENSMUSG00000078639 |
| Gene Name |
predicted gene 12695 |
| Synonyms |
|
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
96611884-96673423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96657905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 88
(H88L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107071]
|
| AlphaFold |
A2AGB2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107071
AA Change: H88L
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: H88L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm12695 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Gm12695
|
APN |
4 |
96,637,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Gm12695
|
APN |
4 |
96,646,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02605:Gm12695
|
APN |
4 |
96,650,988 (GRCm39) |
missense |
probably null |
0.92 |
|
IGL02734:Gm12695
|
APN |
4 |
96,612,267 (GRCm39) |
nonsense |
probably null |
|
|
IGL02869:Gm12695
|
APN |
4 |
96,650,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL02895:Gm12695
|
APN |
4 |
96,612,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0020:Gm12695
|
UTSW |
4 |
96,657,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0465:Gm12695
|
UTSW |
4 |
96,673,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0941:Gm12695
|
UTSW |
4 |
96,616,454 (GRCm39) |
nonsense |
probably null |
|
|
R0968:Gm12695
|
UTSW |
4 |
96,650,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Gm12695
|
UTSW |
4 |
96,651,082 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1983:Gm12695
|
UTSW |
4 |
96,627,214 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2051:Gm12695
|
UTSW |
4 |
96,658,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2064:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2065:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2066:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2067:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2073:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2075:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2233:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Gm12695
|
UTSW |
4 |
96,657,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2507:Gm12695
|
UTSW |
4 |
96,642,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Gm12695
|
UTSW |
4 |
96,650,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4685:Gm12695
|
UTSW |
4 |
96,650,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Gm12695
|
UTSW |
4 |
96,616,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6767:Gm12695
|
UTSW |
4 |
96,650,933 (GRCm39) |
splice site |
probably null |
|
|
R6786:Gm12695
|
UTSW |
4 |
96,651,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Gm12695
|
UTSW |
4 |
96,673,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6923:Gm12695
|
UTSW |
4 |
96,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6978:Gm12695
|
UTSW |
4 |
96,657,959 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7810:Gm12695
|
UTSW |
4 |
96,619,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8263:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8272:Gm12695
|
UTSW |
4 |
96,612,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8285:Gm12695
|
UTSW |
4 |
96,657,990 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8924:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9115:Gm12695
|
UTSW |
4 |
96,657,846 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9444:Gm12695
|
UTSW |
4 |
96,612,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Gm12695
|
UTSW |
4 |
96,651,075 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9725:Gm12695
|
UTSW |
4 |
96,616,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm12695
|
UTSW |
4 |
96,637,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACCAGCTCAATTTGTTGTAGAC -3'
(R):5'- CAAGGTGCAAACTCTCTTCACAG -3'
Sequencing Primer
(F):5'- AGCTTGGCCATCTCTTGT -3'
(R):5'- CTCTCTTCACAGTAAGCAGAATGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation