Incidental Mutation 'R8373:Gm14025'
| ID |
646530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm14025
|
| Ensembl Gene |
ENSMUSG00000079051 |
| Gene Name |
predicted gene 14025 |
| Synonyms |
|
| MMRRC Submission |
067741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
129025073-129048172 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129038171 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 612
(I612F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145798]
|
| AlphaFold |
A2AP89 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123404
Gene: ENSMUSG00000079051
AA Change: I612F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
14 |
248 |
5.8e-18 |
PFAM |
|
Pfam:Vinculin
|
281 |
619 |
2.1e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210010C04Rik |
T |
G |
6: 41,031,688 (GRCm38) |
T231P |
possibly damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,467,334 (GRCm38) |
T290A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,400,267 (GRCm38) |
Q685* |
probably null |
Het |
| Ankmy1 |
A |
G |
1: 92,896,094 (GRCm38) |
M150T |
probably damaging |
Het |
| Armc1 |
T |
C |
3: 19,149,567 (GRCm38) |
Y65C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,527,099 (GRCm38) |
V222A |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 111,715,738 (GRCm38) |
Y228* |
probably null |
Het |
| Cct2 |
T |
C |
10: 117,060,824 (GRCm38) |
D158G |
possibly damaging |
Het |
| Cul1 |
T |
A |
6: 47,515,063 (GRCm38) |
C426S |
possibly damaging |
Het |
| Deup1 |
G |
T |
9: 15,592,375 (GRCm38) |
L297M |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,854,229 (GRCm38) |
S74P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,507,079 (GRCm38) |
Y98H |
possibly damaging |
Het |
| Epn3 |
T |
G |
11: 94,492,936 (GRCm38) |
D296A |
probably damaging |
Het |
| Eri2 |
A |
C |
7: 119,772,597 (GRCm38) |
I252S |
probably benign |
Het |
| Gp9 |
C |
T |
6: 87,779,012 (GRCm38) |
T3I |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,394,456 (GRCm38) |
V55E |
|
Het |
| Kif3c |
G |
T |
12: 3,366,089 (GRCm38) |
V37L |
probably benign |
Het |
| Lct |
A |
T |
1: 128,303,840 (GRCm38) |
N757K |
probably damaging |
Het |
| Lhx8 |
A |
C |
3: 154,324,658 (GRCm38) |
N112K |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,048,891 (GRCm38) |
S373R |
possibly damaging |
Het |
| Mettl4 |
G |
A |
17: 94,733,649 (GRCm38) |
T359I |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,444,096 (GRCm38) |
S109P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 126,026,295 (GRCm38) |
V840A |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 32,176,936 (GRCm38) |
L571Q |
probably damaging |
Het |
| Olfr453 |
T |
C |
6: 42,744,346 (GRCm38) |
F103S |
probably damaging |
Het |
| Olfr46 |
A |
T |
7: 140,610,295 (GRCm38) |
Y35F |
possibly damaging |
Het |
| Phgdh |
G |
A |
3: 98,321,245 (GRCm38) |
T204I |
probably damaging |
Het |
| Pla2g4d |
C |
T |
2: 120,277,499 (GRCm38) |
V310M |
probably null |
Het |
| Psmd12 |
C |
T |
11: 107,497,624 (GRCm38) |
P421L |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,541,168 (GRCm38) |
Y432H |
probably damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,710,231 (GRCm38) |
G655S |
probably damaging |
Het |
| Rilpl2 |
C |
A |
5: 124,478,034 (GRCm38) |
A18S |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,205,386 (GRCm38) |
R88G |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,769,233 (GRCm38) |
K85E |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,795,767 (GRCm38) |
S49R |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,905,494 (GRCm38) |
T160A |
probably damaging |
Het |
| Zfp704 |
G |
A |
3: 9,609,442 (GRCm38) |
T93M |
unknown |
Het |
|
| Other mutations in Gm14025 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Gm14025
|
APN |
2 |
129,038,702 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02423:Gm14025
|
APN |
2 |
129,048,048 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02730:Gm14025
|
APN |
2 |
129,038,726 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
PIT4677001:Gm14025
|
UTSW |
2 |
129,038,716 (GRCm38) |
missense |
|
|
|
R0019:Gm14025
|
UTSW |
2 |
129,039,026 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3946:Gm14025
|
UTSW |
2 |
129,039,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4666:Gm14025
|
UTSW |
2 |
129,038,230 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4819:Gm14025
|
UTSW |
2 |
129,040,801 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5634:Gm14025
|
UTSW |
2 |
129,039,486 (GRCm38) |
missense |
probably benign |
|
|
R6019:Gm14025
|
UTSW |
2 |
129,037,690 (GRCm38) |
missense |
probably benign |
|
|
R6241:Gm14025
|
UTSW |
2 |
129,037,381 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6285:Gm14025
|
UTSW |
2 |
129,037,799 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6377:Gm14025
|
UTSW |
2 |
129,036,811 (GRCm38) |
missense |
unknown |
|
|
R6464:Gm14025
|
UTSW |
2 |
129,039,545 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6724:Gm14025
|
UTSW |
2 |
129,038,056 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7050:Gm14025
|
UTSW |
2 |
129,027,971 (GRCm38) |
splice site |
probably null |
|
|
R7130:Gm14025
|
UTSW |
2 |
129,039,181 (GRCm38) |
missense |
|
|
|
R7199:Gm14025
|
UTSW |
2 |
129,038,318 (GRCm38) |
missense |
|
|
|
R7324:Gm14025
|
UTSW |
2 |
129,037,852 (GRCm38) |
missense |
unknown |
|
|
R7355:Gm14025
|
UTSW |
2 |
129,037,229 (GRCm38) |
missense |
unknown |
|
|
R7407:Gm14025
|
UTSW |
2 |
129,038,809 (GRCm38) |
missense |
|
|
|
R7634:Gm14025
|
UTSW |
2 |
129,038,272 (GRCm38) |
missense |
|
|
|
R7688:Gm14025
|
UTSW |
2 |
129,039,044 (GRCm38) |
nonsense |
probably null |
|
|
R7889:Gm14025
|
UTSW |
2 |
129,036,994 (GRCm38) |
missense |
unknown |
|
|
R7894:Gm14025
|
UTSW |
2 |
129,037,129 (GRCm38) |
missense |
unknown |
|
|
R8242:Gm14025
|
UTSW |
2 |
129,039,393 (GRCm38) |
nonsense |
probably null |
|
|
R8927:Gm14025
|
UTSW |
2 |
129,040,869 (GRCm38) |
missense |
|
|
|
R8928:Gm14025
|
UTSW |
2 |
129,040,869 (GRCm38) |
missense |
|
|
|
R9231:Gm14025
|
UTSW |
2 |
129,037,420 (GRCm38) |
missense |
unknown |
|
|
R9504:Gm14025
|
UTSW |
2 |
129,039,269 (GRCm38) |
missense |
|
|
|
R9505:Gm14025
|
UTSW |
2 |
129,036,918 (GRCm38) |
missense |
unknown |
|
|
R9608:Gm14025
|
UTSW |
2 |
129,036,630 (GRCm38) |
nonsense |
probably null |
|
|
R9682:Gm14025
|
UTSW |
2 |
129,033,609 (GRCm38) |
missense |
unknown |
|
|
R9760:Gm14025
|
UTSW |
2 |
129,038,579 (GRCm38) |
missense |
|
|
|
RF002:Gm14025
|
UTSW |
2 |
129,038,794 (GRCm38) |
missense |
|
|
|
X0066:Gm14025
|
UTSW |
2 |
129,039,067 (GRCm38) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACACCTTTGCTGACAGC -3'
(R):5'- AGTCGTGGTTCAACAGCTGG -3'
Sequencing Primer
(F):5'- AATCTCCACCCATGTATGCAGGTG -3'
(R):5'- TGGCACAGTCTTCCGTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation