Incidental Mutation 'R9122:Gm40460'
| ID |
692820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm40460
|
| Ensembl Gene |
ENSMUSG00000110324 |
| Gene Name |
predicted gene, 40460 |
| Synonyms |
|
| MMRRC Submission |
068924-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R9122 (G1)
|
| Quality Score |
210.46 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141794081-141794815 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (10 aa in frame mutation) |
| DNA Base Change (assembly) |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG to CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG
at 141794554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000211591]
|
| AlphaFold |
A0A1B0GR10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211591
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,011,459 (GRCm39) |
Y83N |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
C |
A |
14: 29,845,402 (GRCm39) |
R611L |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 29,852,125 (GRCm39) |
T498I |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,831,081 (GRCm39) |
D57E |
probably null |
Het |
| Cd180 |
C |
A |
13: 102,841,517 (GRCm39) |
L188M |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,840,510 (GRCm39) |
K1426R |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,411,601 (GRCm39) |
D495V |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,907,249 (GRCm39) |
M630K |
unknown |
Het |
| Cxxc1 |
T |
G |
18: 74,350,246 (GRCm39) |
D4E |
probably benign |
Het |
| Ddx31 |
G |
A |
2: 28,748,753 (GRCm39) |
R227Q |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,442,898 (GRCm39) |
M1109V |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,908,240 (GRCm39) |
T1018A |
|
Het |
| Efcab3 |
A |
T |
11: 104,856,605 (GRCm39) |
D3840V |
unknown |
Het |
| Ggta1 |
A |
T |
2: 35,303,336 (GRCm39) |
|
probably null |
Het |
| Gpr37l1 |
C |
T |
1: 135,095,209 (GRCm39) |
V12I |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,186 (GRCm39) |
V967E |
possibly damaging |
Het |
| H2ac25 |
T |
C |
11: 58,845,667 (GRCm39) |
L35P |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,556,830 (GRCm39) |
T1283A |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,745,930 (GRCm39) |
M1315T |
possibly damaging |
Het |
| Klri1 |
T |
A |
6: 129,693,995 (GRCm39) |
R31* |
probably null |
Het |
| Nadk |
T |
A |
4: 155,671,275 (GRCm39) |
N226K |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,846,015 (GRCm39) |
F624S |
possibly damaging |
Het |
| Nxn |
A |
T |
11: 76,169,317 (GRCm39) |
I154N |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,998 (GRCm39) |
V2952A |
unknown |
Het |
| Poc1a |
T |
C |
9: 106,162,242 (GRCm39) |
V89A |
probably benign |
Het |
| Pou2f2 |
T |
A |
7: 24,792,302 (GRCm39) |
T518S |
probably benign |
Het |
| Pou5f1 |
C |
T |
17: 35,819,953 (GRCm39) |
T7I |
probably benign |
Het |
| Prss44 |
T |
C |
9: 110,646,362 (GRCm39) |
V363A |
probably damaging |
Het |
| Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
| Slc24a1 |
C |
A |
9: 64,834,478 (GRCm39) |
M981I |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,314,755 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Trgv1 |
G |
A |
13: 19,524,330 (GRCm39) |
G18E |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,681 (GRCm39) |
T61A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,478,737 (GRCm39) |
H195N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,712,151 (GRCm39) |
S8202P |
unknown |
Het |
| Ufsp2 |
A |
T |
8: 46,438,441 (GRCm39) |
Y248F |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,240,910 (GRCm39) |
I68L |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 102,091,831 (GRCm39) |
V503L |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,919 (GRCm39) |
K852* |
probably null |
Het |
| Zfp980 |
A |
C |
4: 145,428,834 (GRCm39) |
H521P |
probably damaging |
Het |
|
| Other mutations in Gm40460 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6822:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7016:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7053:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7083:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7087:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R7110:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7184:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7224:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R7367:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R7411:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7481:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7491:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7553:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7637:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7643:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7663:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R7785:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R7871:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R7895:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R8054:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R8355:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R8389:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R8501:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R8509:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R8705:Gm40460
|
UTSW |
7 |
141,794,734 (GRCm39) |
missense |
unknown |
|
|
R8736:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R8815:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R8815:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R8862:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R8884:Gm40460
|
UTSW |
7 |
141,794,555 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R8915:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R8939:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R9034:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R9040:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R9142:Gm40460
|
UTSW |
7 |
141,794,499 (GRCm39) |
missense |
unknown |
|
|
R9172:Gm40460
|
UTSW |
7 |
141,794,447 (GRCm39) |
small deletion |
probably benign |
|
|
R9217:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R9292:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R9314:Gm40460
|
UTSW |
7 |
141,794,447 (GRCm39) |
small deletion |
probably benign |
|
|
R9401:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R9556:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R9562:Gm40460
|
UTSW |
7 |
141,794,701 (GRCm39) |
missense |
unknown |
|
|
R9642:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R9731:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
R9741:Gm40460
|
UTSW |
7 |
141,794,450 (GRCm39) |
small deletion |
probably benign |
|
|
R9793:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
RF040:Gm40460
|
UTSW |
7 |
141,794,554 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Gm40460
|
UTSW |
7 |
141,794,643 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gm40460
|
UTSW |
7 |
141,794,509 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCAACTAGATTGACAGCAG -3'
(R):5'- ATGACCTGCTGTGGCTGTTC -3'
Sequencing Primer
(F):5'- TTGACAGCAGCAGGGCTTG -3'
(R):5'- CTGCTGCAAGCCTGTGTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation