Incidental Mutation 'R7785:Gm40460'
ID |
599498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm40460
|
Ensembl Gene |
ENSMUSG00000110324 |
Gene Name |
predicted gene, 40460 |
Synonyms |
|
MMRRC Submission |
045841-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R7785 (G1)
|
Quality Score |
187.458 |
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) |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG to GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG
at 141794171 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: 99.3%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,262,617 (GRCm39) |
F70L |
probably benign |
Het |
Abca8a |
T |
C |
11: 109,965,032 (GRCm39) |
|
probably null |
Het |
Adamts5 |
T |
C |
16: 85,659,892 (GRCm39) |
D800G |
probably damaging |
Het |
Afm |
T |
C |
5: 90,698,032 (GRCm39) |
V478A |
possibly damaging |
Het |
Akap7 |
T |
A |
10: 25,096,559 (GRCm39) |
K233M |
probably damaging |
Het |
Apbb1 |
T |
C |
7: 105,216,630 (GRCm39) |
N61S |
probably benign |
Het |
Atp8b1 |
A |
T |
18: 64,689,921 (GRCm39) |
S604T |
probably damaging |
Het |
Bcl2l14 |
G |
T |
6: 134,409,223 (GRCm39) |
V266F |
possibly damaging |
Het |
Btnl2 |
T |
A |
17: 34,580,137 (GRCm39) |
H223Q |
probably benign |
Het |
Cap2 |
A |
G |
13: 46,789,224 (GRCm39) |
E255G |
probably benign |
Het |
Chd6 |
A |
T |
2: 160,812,095 (GRCm39) |
F1366Y |
possibly damaging |
Het |
Cryl1 |
A |
T |
14: 57,512,938 (GRCm39) |
S310T |
probably benign |
Het |
Cyp2c69 |
A |
G |
19: 39,839,610 (GRCm39) |
C338R |
probably damaging |
Het |
Dclre1c |
C |
T |
2: 3,425,273 (GRCm39) |
Q7* |
probably null |
Het |
Dhcr7 |
A |
G |
7: 143,399,209 (GRCm39) |
E193G |
probably damaging |
Het |
Dnaaf10 |
T |
A |
11: 17,179,785 (GRCm39) |
V262E |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,833,345 (GRCm39) |
K652E |
probably damaging |
Het |
Emilin3 |
A |
T |
2: 160,752,694 (GRCm39) |
C85* |
probably null |
Het |
Erp44 |
G |
A |
4: 48,243,531 (GRCm39) |
P26S |
probably benign |
Het |
Fxr1 |
A |
G |
3: 34,100,403 (GRCm39) |
I121V |
|
Het |
Gpc5 |
A |
G |
14: 115,654,632 (GRCm39) |
N484S |
probably benign |
Het |
Grm8 |
A |
G |
6: 27,618,636 (GRCm39) |
V402A |
probably damaging |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,387,917 (GRCm39) |
L910P |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,222,253 (GRCm39) |
F13I |
possibly damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,571 (GRCm39) |
S764P |
probably benign |
Het |
Ndufs1 |
T |
C |
1: 63,186,558 (GRCm39) |
D637G |
probably damaging |
Het |
Nnmt |
G |
A |
9: 48,503,309 (GRCm39) |
S239F |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,093,125 (GRCm39) |
I468V |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,406,965 (GRCm39) |
W2401R |
probably damaging |
Het |
Plec |
C |
A |
15: 76,090,029 (GRCm39) |
V104F |
unknown |
Het |
Polq |
A |
G |
16: 36,848,239 (GRCm39) |
Y282C |
probably damaging |
Het |
Ppp1r37 |
A |
T |
7: 19,265,996 (GRCm39) |
V590E |
probably damaging |
Het |
Prr27 |
T |
C |
5: 87,991,131 (GRCm39) |
S248P |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,038,944 (GRCm39) |
E351G |
probably damaging |
Het |
Scn11a |
T |
C |
9: 119,645,622 (GRCm39) |
I111V |
probably benign |
Het |
Slc35a1 |
A |
G |
4: 34,675,148 (GRCm39) |
L130S |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,425,029 (GRCm39) |
L420P |
probably damaging |
Het |
Sp140 |
T |
A |
1: 85,547,819 (GRCm39) |
I182K |
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
C |
A |
11: 73,168,558 (GRCm39) |
H42N |
probably benign |
Het |
Zan |
A |
G |
5: 137,427,405 (GRCm39) |
S2411P |
unknown |
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 |
|
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'- CCACCGTGGCAAAATTCAGAG -3'
(R):5'- CTGTAAACCATGCTGCTCTTCAG -3'
Sequencing Primer
(F):5'- CACCGTGGCAAAATTCAGAGAGTAG -3'
(R):5'- CCATGCTGCTCTTCAGGTTGTG -3'
|
Posted On |
2019-11-26 |