Incidental Mutation 'R4119:Gm597'
| ID |
315205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm597
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
predicted gene 597 |
| Synonyms |
LOC210962 |
| MMRRC Submission |
040992-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
28776117-28780252 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28777973 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 326
(V326D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059937
AA Change: V326D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: V326D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
129 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
137 |
472 |
8.1e-14 |
PFAM |
|
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
718 |
807 |
1.4e-5 |
PROSPERO |
|
internal_repeat_1
|
807 |
894 |
1.4e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,356,904 (GRCm38) |
L39P |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,394,013 (GRCm38) |
M138V |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,801,727 (GRCm38) |
I1067N |
probably damaging |
Het |
| Adam6a |
C |
T |
12: 113,544,574 (GRCm38) |
T189I |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,714,484 (GRCm38) |
|
probably null |
Het |
| Aplnr |
T |
C |
2: 85,136,966 (GRCm38) |
Y112H |
possibly damaging |
Het |
| Arhgap17 |
A |
G |
7: 123,306,994 (GRCm38) |
F313S |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 4,995,794 (GRCm38) |
|
probably benign |
Het |
| Bcas1 |
G |
C |
2: 170,378,815 (GRCm38) |
P394A |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 17,142,187 (GRCm38) |
S213P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 122,863,423 (GRCm38) |
V365A |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,653,045 (GRCm38) |
I2346T |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,785,658 (GRCm38) |
|
probably benign |
Het |
| Ezh2 |
A |
C |
6: 47,544,548 (GRCm38) |
N390K |
probably benign |
Het |
| Fbxo7 |
C |
A |
10: 86,021,895 (GRCm38) |
|
probably benign |
Het |
| Fibin |
A |
G |
2: 110,362,690 (GRCm38) |
Y36H |
probably damaging |
Het |
| Gpr37 |
C |
T |
6: 25,688,426 (GRCm38) |
R224H |
possibly damaging |
Het |
| Hars2 |
A |
T |
18: 36,790,488 (GRCm38) |
N363I |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,805,648 (GRCm38) |
R319Q |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,394,355 (GRCm38) |
D1140N |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,467,195 (GRCm38) |
V190A |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,757,948 (GRCm38) |
|
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,683,868 (GRCm38) |
T660N |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,354,011 (GRCm38) |
|
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,873,492 (GRCm38) |
S1311P |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,291,870 (GRCm38) |
I2213L |
probably damaging |
Het |
| Olfr1122 |
T |
A |
2: 87,387,843 (GRCm38) |
M46K |
possibly damaging |
Het |
| Olfr1155 |
A |
G |
2: 87,943,443 (GRCm38) |
Y62H |
probably damaging |
Het |
| P2ry12 |
T |
C |
3: 59,217,841 (GRCm38) |
T138A |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,717,575 (GRCm38) |
D308G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 30,083,037 (GRCm38) |
|
probably benign |
Het |
| Ripor1 |
T |
A |
8: 105,618,857 (GRCm38) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,779,267 (GRCm38) |
T942A |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 120,064,529 (GRCm38) |
D798V |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 123,117,150 (GRCm38) |
D282V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,666,175 (GRCm38) |
F1287L |
probably damaging |
Het |
| Tshz1 |
T |
G |
18: 84,014,189 (GRCm38) |
K698T |
probably benign |
Het |
| Ttc23l |
A |
C |
15: 10,539,920 (GRCm38) |
V159G |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,047,240 (GRCm38) |
D1503E |
probably benign |
Het |
| Usp29 |
T |
A |
7: 6,962,806 (GRCm38) |
N549K |
probably benign |
Het |
| Vmn2r39 |
G |
A |
7: 9,023,674 (GRCm38) |
H443Y |
probably benign |
Het |
| Zfp24 |
A |
G |
18: 24,014,569 (GRCm38) |
Y229H |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 32,978,215 (GRCm38) |
Y421* |
probably null |
Het |
| Zkscan3 |
T |
C |
13: 21,393,949 (GRCm38) |
E256G |
possibly damaging |
Het |
|
| Other mutations in Gm597 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Gm597
|
APN |
1 |
28,778,651 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00885:Gm597
|
APN |
1 |
28,776,845 (GRCm38) |
missense |
unknown |
|
|
IGL01296:Gm597
|
APN |
1 |
28,777,056 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01476:Gm597
|
APN |
1 |
28,777,453 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02125:Gm597
|
APN |
1 |
28,776,338 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02410:Gm597
|
APN |
1 |
28,778,631 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02982:Gm597
|
APN |
1 |
28,778,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03031:Gm597
|
APN |
1 |
28,778,583 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03267:Gm597
|
APN |
1 |
28,777,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0294:Gm597
|
UTSW |
1 |
28,778,663 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0433:Gm597
|
UTSW |
1 |
28,777,342 (GRCm38) |
nonsense |
probably null |
|
|
R0485:Gm597
|
UTSW |
1 |
28,778,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0645:Gm597
|
UTSW |
1 |
28,776,930 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0744:Gm597
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0836:Gm597
|
UTSW |
1 |
28,777,821 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1036:Gm597
|
UTSW |
1 |
28,777,802 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1302:Gm597
|
UTSW |
1 |
28,776,340 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1394:Gm597
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1395:Gm597
|
UTSW |
1 |
28,776,809 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1514:Gm597
|
UTSW |
1 |
28,778,748 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1535:Gm597
|
UTSW |
1 |
28,777,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2004:Gm597
|
UTSW |
1 |
28,777,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2021:Gm597
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2022:Gm597
|
UTSW |
1 |
28,778,153 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3115:Gm597
|
UTSW |
1 |
28,776,329 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3615:Gm597
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3616:Gm597
|
UTSW |
1 |
28,776,575 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3862:Gm597
|
UTSW |
1 |
28,777,641 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4067:Gm597
|
UTSW |
1 |
28,777,631 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4415:Gm597
|
UTSW |
1 |
28,777,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5010:Gm597
|
UTSW |
1 |
28,777,862 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R5109:Gm597
|
UTSW |
1 |
28,777,555 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5122:Gm597
|
UTSW |
1 |
28,780,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5533:Gm597
|
UTSW |
1 |
28,778,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6085:Gm597
|
UTSW |
1 |
28,778,227 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R6116:Gm597
|
UTSW |
1 |
28,778,699 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6750:Gm597
|
UTSW |
1 |
28,777,414 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6757:Gm597
|
UTSW |
1 |
28,780,110 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6774:Gm597
|
UTSW |
1 |
28,776,893 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7156:Gm597
|
UTSW |
1 |
28,776,767 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7365:Gm597
|
UTSW |
1 |
28,780,152 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7739:Gm597
|
UTSW |
1 |
28,777,608 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7996:Gm597
|
UTSW |
1 |
28,778,406 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8082:Gm597
|
UTSW |
1 |
28,777,498 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8281:Gm597
|
UTSW |
1 |
28,778,144 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8514:Gm597
|
UTSW |
1 |
28,778,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8944:Gm597
|
UTSW |
1 |
28,777,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9042:Gm597
|
UTSW |
1 |
28,776,956 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9101:Gm597
|
UTSW |
1 |
28,776,659 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9106:Gm597
|
UTSW |
1 |
28,776,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9173:Gm597
|
UTSW |
1 |
28,777,349 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9596:Gm597
|
UTSW |
1 |
28,776,607 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9632:Gm597
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9656:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9659:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9661:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9663:Gm597
|
UTSW |
1 |
28,777,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9710:Gm597
|
UTSW |
1 |
28,778,039 (GRCm38) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAAGAGCATCCCTGTGAGTTC -3'
(R):5'- GGTCAACCTGAGCTGAATTGG -3'
Sequencing Primer
(F):5'- ATCCCTGTGAGTTCGGACC -3'
(R):5'- CTGGTTGTGATGTCCAAAAATGCC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation