Incidental Mutation 'R0941:Gm12695'
| ID |
82576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm12695
|
| Ensembl Gene |
ENSMUSG00000078639 |
| Gene Name |
predicted gene 12695 |
| Synonyms |
|
| MMRRC Submission |
039080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96611884-96673423 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 96616454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 460
(E460*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107071]
|
| AlphaFold |
A2AGB2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107071
AA Change: E460*
|
| SMART Domains |
Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: E460*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
G |
T |
18: 74,931,414 (GRCm39) |
M203I |
probably benign |
Het |
| Afmid |
T |
A |
11: 117,726,071 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,987,278 (GRCm39) |
D2854G |
probably damaging |
Het |
| Amotl1 |
A |
C |
9: 14,507,854 (GRCm39) |
I31S |
possibly damaging |
Het |
| Arf3 |
A |
G |
15: 98,638,984 (GRCm39) |
V91A |
probably benign |
Het |
| Atp1b1 |
A |
C |
1: 164,270,829 (GRCm39) |
I50S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,216 (GRCm39) |
S1380T |
probably benign |
Het |
| C4b |
T |
A |
17: 34,959,029 (GRCm39) |
T467S |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,635,848 (GRCm39) |
S640P |
probably damaging |
Het |
| Col4a1 |
C |
T |
8: 11,258,296 (GRCm39) |
G1396S |
unknown |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,580,366 (GRCm39) |
P613Q |
probably benign |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Igsf8 |
C |
T |
1: 172,143,963 (GRCm39) |
R39C |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,936,605 (GRCm39) |
C296S |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,082,860 (GRCm39) |
P1373S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,020 (GRCm39) |
L89P |
possibly damaging |
Het |
| Ltc4s |
T |
G |
11: 50,128,269 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,491,393 (GRCm39) |
I52F |
probably damaging |
Het |
| Mterf2 |
G |
A |
10: 84,955,934 (GRCm39) |
T230M |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,368,716 (GRCm39) |
I448N |
probably benign |
Het |
| Or52u1 |
C |
T |
7: 104,237,545 (GRCm39) |
T178I |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
T |
3: 75,523,934 (GRCm39) |
I181F |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,634,242 (GRCm39) |
M88V |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,555 (GRCm39) |
S35C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,072,771 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
C |
T |
7: 13,468,815 (GRCm39) |
R94* |
probably null |
Het |
| Trim9 |
A |
G |
12: 70,295,037 (GRCm39) |
V787A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,549,367 (GRCm39) |
V31770A |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,249,055 (GRCm39) |
N337D |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,624,000 (GRCm39) |
Y107N |
probably benign |
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 |
|
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 |
|
R5491:Gm12695
|
UTSW |
4 |
96,657,905 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- TGCCCATGAGATGAAAGCAAGCC -3'
(R):5'- CTCACAGAGTAGGACATCAGAACGC -3'
Sequencing Primer
(F):5'- ACCTTACCTGTGTTGCTCAG -3'
(R):5'- ACTTGACAGTTAGAGCTGCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation