Incidental Mutation 'R9556:Gm40460'
| ID |
720755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm40460
|
| Ensembl Gene |
ENSMUSG00000110324 |
| Gene Name |
predicted gene, 40460 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R9556 (G1)
|
| Quality Score |
174.475 |
|
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
T |
9: 104,197,178 (GRCm39) |
Y183N |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,073 (GRCm39) |
N46I |
probably damaging |
Het |
| Aldh1a1 |
T |
C |
19: 20,600,756 (GRCm39) |
V191A |
possibly damaging |
Het |
| Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ddb2 |
G |
T |
2: 91,065,202 (GRCm39) |
Y74* |
probably null |
Het |
| Ddx11 |
A |
G |
17: 66,447,207 (GRCm39) |
T436A |
probably benign |
Het |
| Edc4 |
TAGCAGCAGCAGCAGCAGCAGCAGC |
TAGCAGCAGCAGCAGCAGCAGC |
8: 106,615,067 (GRCm39) |
|
probably benign |
Het |
| Eif1ad18 |
G |
A |
12: 88,050,510 (GRCm39) |
G15D |
probably damaging |
Het |
| Ghdc |
A |
T |
11: 100,658,861 (GRCm39) |
C424S |
possibly damaging |
Het |
| Gm7347 |
G |
A |
5: 26,259,996 (GRCm39) |
R185C |
probably benign |
Het |
| Gys2 |
C |
T |
6: 142,374,377 (GRCm39) |
R556H |
probably damaging |
Het |
| Hoxa1 |
ATGGTGGTGGTGGTGGTGGTGGTGGTGG |
ATGGTGGTGGTGGTGGTGGTGGTGG |
6: 52,134,983 (GRCm39) |
|
probably benign |
Het |
| Igsf21 |
A |
C |
4: 139,762,014 (GRCm39) |
D221E |
probably damaging |
Het |
| Izumo3 |
A |
T |
4: 92,035,117 (GRCm39) |
D33E |
possibly damaging |
Het |
| Kcnu1 |
A |
C |
8: 26,348,154 (GRCm39) |
I107L |
probably damaging |
Het |
| Mme |
C |
A |
3: 63,272,225 (GRCm39) |
T608K |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,278,263 (GRCm39) |
I774K |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,569,934 (GRCm39) |
S862P |
unknown |
Het |
| Ncbp2 |
T |
A |
16: 31,775,758 (GRCm39) |
V134D |
probably damaging |
Het |
| Nr5a2 |
A |
T |
1: 136,818,460 (GRCm39) |
H416Q |
possibly damaging |
Het |
| Nsmaf |
A |
T |
4: 6,408,637 (GRCm39) |
M714K |
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,479,444 (GRCm39) |
N420D |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,938 (GRCm39) |
I196T |
probably benign |
Het |
| Or7e176 |
G |
T |
9: 20,171,651 (GRCm39) |
V172L |
probably benign |
Het |
| Phlpp2 |
A |
G |
8: 110,666,758 (GRCm39) |
T1096A |
probably benign |
Het |
| Ppp1r14a |
A |
G |
7: 28,988,944 (GRCm39) |
E62G |
probably damaging |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,039 (GRCm39) |
V109E |
unknown |
Het |
| Slc26a1 |
T |
C |
5: 108,820,404 (GRCm39) |
N281S |
|
Het |
| Slc35a3 |
T |
A |
3: 116,474,763 (GRCm39) |
I210F |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,201,905 (GRCm39) |
D16E |
probably benign |
Het |
| Tbcd |
G |
A |
11: 121,467,053 (GRCm39) |
A638T |
probably damaging |
Het |
| Tes |
A |
T |
6: 17,096,233 (GRCm39) |
T74S |
probably benign |
Het |
| Ugt2a2 |
G |
A |
5: 87,609,821 (GRCm39) |
T420I |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,218,716 (GRCm39) |
T684A |
possibly damaging |
Het |
| Zfp160 |
A |
G |
17: 21,247,031 (GRCm39) |
N527S |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 82,974,965 (GRCm39) |
P388T |
probably benign |
Het |
| Zfp719 |
G |
A |
7: 43,239,072 (GRCm39) |
C220Y |
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 |
|
|
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 |
|
|
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 |
2022-08-09 |
Incidental Mutation