Incidental Mutation 'R8915:Gm40460'
| ID |
678883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm40460
|
| Ensembl Gene |
ENSMUSG00000110324 |
| Gene Name |
predicted gene, 40460 |
| Synonyms |
|
| MMRRC Submission |
068703-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R8915 (G1)
|
| Quality Score |
131.474 |
|
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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
A |
7: 43,903,751 (GRCm39) |
H217L |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,558 (GRCm39) |
V877I |
probably damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,763 (GRCm39) |
D1924E |
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,902 (GRCm39) |
E214V |
probably damaging |
Het |
| Calhm5 |
T |
C |
10: 33,968,415 (GRCm39) |
S213G |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,325,709 (GRCm39) |
L207P |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,612 (GRCm39) |
D71G |
probably damaging |
Het |
| Cdhr2 |
G |
T |
13: 54,874,184 (GRCm39) |
W752L |
probably benign |
Het |
| Clec1b |
T |
C |
6: 129,382,212 (GRCm39) |
*230Q |
probably null |
Het |
| Ctbs |
T |
C |
3: 146,169,724 (GRCm39) |
V327A |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,795,991 (GRCm39) |
I129N |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,147,801 (GRCm39) |
L21H |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,156,736 (GRCm39) |
D1487G |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,849,987 (GRCm39) |
Q674R |
possibly damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,958 (GRCm39) |
Y16C |
unknown |
Het |
| Fto |
T |
C |
8: 92,136,471 (GRCm39) |
|
probably null |
Het |
| Gcfc2 |
A |
G |
6: 81,918,347 (GRCm39) |
K346E |
probably benign |
Het |
| Gpam |
A |
G |
19: 55,077,312 (GRCm39) |
S160P |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,885 (GRCm39) |
V277I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,318,456 (GRCm39) |
Y1243H |
probably damaging |
Het |
| Hhat |
C |
T |
1: 192,277,203 (GRCm39) |
E419K |
probably benign |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,802 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Lactbl1 |
G |
T |
4: 136,360,243 (GRCm39) |
A141S |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,854,927 (GRCm39) |
D65G |
possibly damaging |
Het |
| Nfkbie |
A |
G |
17: 45,871,067 (GRCm39) |
I240V |
probably benign |
Het |
| Nim1k |
T |
A |
13: 120,173,874 (GRCm39) |
D340V |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,876,449 (GRCm39) |
K498R |
possibly damaging |
Het |
| Or52e2 |
C |
T |
7: 102,804,411 (GRCm39) |
C181Y |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,957 (GRCm39) |
S357P |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,472,098 (GRCm39) |
E384K |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,136,376 (GRCm39) |
V528A |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 127,679,908 (GRCm39) |
|
probably benign |
Het |
| Rnd1 |
A |
G |
15: 98,575,181 (GRCm39) |
V17A |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,977,805 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,123,432 (GRCm39) |
S484G |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,603,363 (GRCm39) |
W1101* |
probably null |
Het |
| Scrn3 |
T |
A |
2: 73,148,636 (GRCm39) |
V69D |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,309 (GRCm39) |
T161A |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,080,064 (GRCm39) |
A873D |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,868,658 (GRCm39) |
I389N |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,016,415 (GRCm39) |
L690P |
probably damaging |
Het |
| Trip13 |
T |
C |
13: 74,081,085 (GRCm39) |
T94A |
probably benign |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,171 (GRCm39) |
L314* |
probably null |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,650 (GRCm39) |
Y799H |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,780,769 (GRCm39) |
L597P |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,507 (GRCm39) |
C247S |
probably benign |
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 |
|
|
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'- GAACCTCAGATCTTGCACTGG -3'
(R):5'- AAGGGAGGCTGTAGTTCCTG -3'
Sequencing Primer
(F):5'- AGCAGCAGGGCTTACAGC -3'
(R):5'- TCCTGTGGGGGCTGCAAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation