Incidental Mutation 'IGL01836:Gm7247'
| ID |
154947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm7247
|
| Ensembl Gene |
ENSMUSG00000068399 |
| Gene Name |
predicted gene 7247 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL01836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51601678-51765127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51602853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 63
(I63K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162998]
|
| AlphaFold |
Q6UY52 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162079
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162998
AA Change: I63K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: I63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
| Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
| Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
| Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
| Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
| Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
| Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
| Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
| Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gm7247 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Gm7247
|
APN |
14 |
51,760,962 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01776:Gm7247
|
APN |
14 |
51,759,356 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02270:Gm7247
|
APN |
14 |
51,759,341 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02961:Gm7247
|
APN |
14 |
51,602,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Gm7247
|
APN |
14 |
51,760,914 (GRCm39) |
missense |
probably benign |
|
|
R0054:Gm7247
|
UTSW |
14 |
51,807,057 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0413:Gm7247
|
UTSW |
14 |
51,760,929 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1143:Gm7247
|
UTSW |
14 |
51,760,875 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2018:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2019:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2117:Gm7247
|
UTSW |
14 |
51,602,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3971:Gm7247
|
UTSW |
14 |
51,602,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Gm7247
|
UTSW |
14 |
51,807,051 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5109:Gm7247
|
UTSW |
14 |
51,602,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5773:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5775:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5776:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5995:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5996:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6008:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6009:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6011:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6193:Gm7247
|
UTSW |
14 |
51,759,299 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6986:Gm7247
|
UTSW |
14 |
51,602,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7226:Gm7247
|
UTSW |
14 |
51,602,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Gm7247
|
UTSW |
14 |
51,601,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8878:Gm7247
|
UTSW |
14 |
51,666,210 (GRCm39) |
intron |
probably benign |
|
|
RF021:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
RF046:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation