Incidental Mutation 'R7053:Gm40460'
| ID |
547714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm40460
|
| Ensembl Gene |
ENSMUSG00000110324 |
| Gene Name |
predicted gene, 40460 |
| Synonyms |
|
| MMRRC Submission |
045150-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R7053 (G1)
|
| Quality Score |
148.459 |
|
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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
| Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
| AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
| BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
| Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
| Dnai2 |
T |
C |
11: 114,629,521 (GRCm39) |
S183P |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
| Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
| Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
| Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
| Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
| Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
| Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
| Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
| Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
| Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
| Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
| Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
| Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
| Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
| Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
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 |
|
|
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 |
141,794,171 (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'- ATTGACAGCAGCAGGGCTTG -3'
(R):5'- ATGACCTGCTGTGGCTGTTC -3'
Sequencing Primer
(F):5'- TTGCAGCAACTGGACTGG -3'
(R):5'- CTGCTGCAAGCCTGTGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation