Incidental Mutation 'IGL01910:BC061237'
| ID |
179790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC061237
|
| Ensembl Gene |
ENSMUSG00000072145 |
| Gene Name |
cDNA sequence BC061237 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
44737579-44743802 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 44743445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096899]
|
| AlphaFold |
Q6P8I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096899
|
| SMART Domains |
Protein: ENSMUSP00000094662
Gene: ENSMUSG00000072145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
10 |
88 |
1.6e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227180
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
| Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,386,606 (GRCm39) |
D373G |
probably damaging |
Het |
| Chst9 |
C |
A |
18: 15,585,931 (GRCm39) |
A211S |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,875,703 (GRCm39) |
|
probably null |
Het |
| Nudt9 |
G |
A |
5: 104,202,175 (GRCm39) |
G79R |
probably damaging |
Het |
| Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
| Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
| Wdr93 |
T |
C |
7: 79,421,321 (GRCm39) |
S405P |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
probably damaging |
Het |
|
| Other mutations in BC061237 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02931:BC061237
|
APN |
14 |
44,740,779 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1371:BC061237
|
UTSW |
14 |
44,741,762 (GRCm39) |
splice site |
probably benign |
|
|
R1927:BC061237
|
UTSW |
14 |
44,738,700 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2884:BC061237
|
UTSW |
14 |
44,738,627 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3892:BC061237
|
UTSW |
14 |
44,738,730 (GRCm39) |
missense |
probably benign |
|
|
R4749:BC061237
|
UTSW |
14 |
44,743,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4884:BC061237
|
UTSW |
14 |
44,738,666 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5866:BC061237
|
UTSW |
14 |
44,738,730 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6381:BC061237
|
UTSW |
14 |
44,741,713 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6445:BC061237
|
UTSW |
14 |
44,738,731 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6714:BC061237
|
UTSW |
14 |
44,741,639 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8886:BC061237
|
UTSW |
14 |
44,741,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8943:BC061237
|
UTSW |
14 |
44,741,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9124:BC061237
|
UTSW |
14 |
44,740,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-05-07 |
Incidental Mutation