Incidental Mutation 'R8705:Gm40460'
ID |
669234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm40460
|
Ensembl Gene |
ENSMUSG00000110324 |
Gene Name |
predicted gene, 40460 |
Synonyms |
|
MMRRC Submission |
068559-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R8705 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
141794081-141794815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 141794734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 28
(C28S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000211591]
|
AlphaFold |
A0A1B0GR10 |
Predicted Effect |
unknown
Transcript: ENSMUST00000211591
AA Change: C28S
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
G |
T |
13: 4,484,447 (GRCm39) |
G20W |
probably damaging |
Het |
Ces1c |
A |
G |
8: 93,857,518 (GRCm39) |
L21P |
probably benign |
Het |
Col11a2 |
G |
T |
17: 34,268,769 (GRCm39) |
G394V |
unknown |
Het |
Cyp2c70 |
A |
G |
19: 40,168,948 (GRCm39) |
V113A |
probably benign |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Fras1 |
A |
T |
5: 96,839,260 (GRCm39) |
D1593V |
probably benign |
Het |
Frzb |
G |
A |
2: 80,277,241 (GRCm39) |
|
probably benign |
Het |
Gas6 |
T |
C |
8: 13,525,156 (GRCm39) |
D276G |
probably damaging |
Het |
Gdf7 |
C |
T |
12: 8,348,167 (GRCm39) |
E377K |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,753,132 (GRCm39) |
F36L |
possibly damaging |
Het |
Hnrnpd |
A |
G |
5: 100,111,588 (GRCm39) |
|
probably benign |
Het |
Hsd17b11 |
G |
A |
5: 104,140,703 (GRCm39) |
L265F |
probably benign |
Het |
Hyal6 |
G |
A |
6: 24,734,673 (GRCm39) |
R202H |
probably benign |
Het |
Igkv5-43 |
A |
G |
6: 69,800,592 (GRCm39) |
S32P |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,388,907 (GRCm39) |
Y860C |
probably damaging |
Het |
Krt79 |
G |
A |
15: 101,846,441 (GRCm39) |
T169M |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,820,354 (GRCm39) |
C3296Y |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,148,729 (GRCm39) |
I1200K |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,902,495 (GRCm39) |
Y78* |
probably null |
Het |
Napb |
A |
G |
2: 148,542,396 (GRCm39) |
V188A |
probably benign |
Het |
Neb |
T |
C |
2: 52,148,795 (GRCm39) |
Y2584C |
probably damaging |
Het |
Or52e8 |
T |
C |
7: 104,624,446 (GRCm39) |
I253V |
possibly damaging |
Het |
P4htm |
G |
A |
9: 108,457,240 (GRCm39) |
A381V |
probably damaging |
Het |
Pcdha8 |
T |
A |
18: 37,126,906 (GRCm39) |
F463I |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,775,612 (GRCm39) |
T1030A |
probably damaging |
Het |
Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
Prrc2a |
A |
G |
17: 35,372,542 (GRCm39) |
S1700P |
possibly damaging |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Sf3b5 |
G |
T |
10: 12,884,554 (GRCm39) |
R63L |
probably damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,802,591 (GRCm39) |
L308P |
probably damaging |
Het |
Slc7a2 |
A |
T |
8: 41,368,032 (GRCm39) |
T599S |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,987,012 (GRCm39) |
N184S |
possibly damaging |
Het |
Traf3 |
A |
G |
12: 111,208,938 (GRCm39) |
E119G |
possibly damaging |
Het |
Trim24 |
T |
C |
6: 37,880,588 (GRCm39) |
|
probably benign |
Het |
Ubxn11 |
A |
T |
4: 133,853,551 (GRCm39) |
I368F |
probably damaging |
Het |
Vmn2r27 |
C |
T |
6: 124,207,188 (GRCm39) |
G151D |
probably damaging |
Het |
Wfdc16 |
T |
A |
2: 164,480,395 (GRCm39) |
R33S |
possibly damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,433 (GRCm39) |
V382A |
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 |
|
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'- CTAGATTGACAGCAGCAGGG -3'
(R):5'- TATAAAGGCCCAGGCTCAGGAG -3'
Sequencing Primer
(F):5'- TTGCAGCAACTGGACTGG -3'
(R):5'- GGAGGCTCCACATCACACTTC -3'
|
Posted On |
2021-04-30 |