Incidental Mutation 'R8736:Gm40460'
| ID |
663034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm40460
|
| Ensembl Gene |
ENSMUSG00000110324 |
| Gene Name |
predicted gene, 40460 |
| Synonyms |
|
| MMRRC Submission |
068617-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R8736 (G1)
|
| Quality Score |
199.458 |
|
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) |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG to ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG
at 141794450 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: 99.8%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
T |
A |
11: 78,178,875 (GRCm39) |
S2047T |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,815,833 (GRCm39) |
S100P |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,447 (GRCm39) |
T35A |
unknown |
Het |
| Cul2 |
T |
A |
18: 3,434,019 (GRCm39) |
V672E |
probably damaging |
Het |
| Cyb5a |
C |
A |
18: 84,869,560 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
T |
A |
14: 45,836,642 (GRCm39) |
Y831F |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,995,104 (GRCm39) |
I698T |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,805,621 (GRCm39) |
V1967L |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,972 (GRCm39) |
N177S |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,047 (GRCm39) |
Y242H |
probably damaging |
Het |
| Mab21l2 |
C |
A |
3: 86,454,607 (GRCm39) |
R131L |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,726 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,103,396 (GRCm39) |
T38A |
probably benign |
Het |
| Mapkapk5 |
G |
A |
5: 121,665,241 (GRCm39) |
A338V |
possibly damaging |
Het |
| Morc2a |
C |
A |
11: 3,631,737 (GRCm39) |
T556K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,462,139 (GRCm39) |
Q7459* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,228,439 (GRCm39) |
T1256A |
possibly damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,384 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,095,922 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,309 (GRCm39) |
C256R |
probably damaging |
Het |
| Or7g20 |
G |
T |
9: 18,946,774 (GRCm39) |
M118I |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,358 (GRCm39) |
I199V |
probably benign |
Het |
| Or9s18 |
T |
G |
13: 65,300,538 (GRCm39) |
C167G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,975,464 (GRCm39) |
V701A |
possibly damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,046,261 (GRCm39) |
I918N |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,307,053 (GRCm39) |
S118G |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,711 (GRCm39) |
T549A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,512 (GRCm39) |
I559V |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,141,975 (GRCm39) |
T200A |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,821,105 (GRCm39) |
I488V |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,221 (GRCm39) |
M93L |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,104,966 (GRCm39) |
V31E |
possibly 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 |
|
|
R8815:Gm40460
|
UTSW |
7 |
141,794,171 (GRCm39) |
small deletion |
probably benign |
|
|
R8815:Gm40460
|
UTSW |
7 |
141,794,554 (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 |
|
|
R9122:Gm40460
|
UTSW |
7 |
141,794,554 (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'- ACCTCAGATCTTGCACTGGC -3'
(R):5'- AAGGGAGGCTGTAGTTCCTG -3'
Sequencing Primer
(F):5'- AGCAGCAGGGCTTACAGC -3'
(R):5'- TCCTGTGGGGGCTGCAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation