Incidental Mutation 'IGL01956:Iho1'
ID |
181109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iho1
|
Ensembl Gene |
ENSMUSG00000047220 |
Gene Name |
interactor of HORMAD1 1 |
Synonyms |
Ccdc36, Iho1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL01956
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108280810-108305683 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 108294518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076592]
|
AlphaFold |
Q6PDM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076592
|
SMART Domains |
Protein: ENSMUSP00000075898 Gene: ENSMUSG00000047220
Domain | Start | End | E-Value | Type |
Pfam:DUF4700
|
19 |
572 |
4.7e-274 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
C |
T |
5: 89,825,770 (GRCm39) |
G1022D |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,594,549 (GRCm39) |
H4155R |
possibly damaging |
Het |
Akna |
A |
T |
4: 63,297,527 (GRCm39) |
D842E |
probably benign |
Het |
Cacng5 |
T |
C |
11: 107,773,735 (GRCm39) |
E88G |
possibly damaging |
Het |
Fbxw18 |
G |
A |
9: 109,522,425 (GRCm39) |
P148L |
probably damaging |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,150,158 (GRCm39) |
|
probably null |
Het |
Nudcd1 |
A |
G |
15: 44,263,612 (GRCm39) |
Y277H |
probably damaging |
Het |
Nvl |
A |
G |
1: 180,962,509 (GRCm39) |
S154P |
probably benign |
Het |
Or6c206 |
T |
A |
10: 129,096,911 (GRCm39) |
I27N |
possibly damaging |
Het |
Pah |
G |
A |
10: 87,374,061 (GRCm39) |
E76K |
probably benign |
Het |
Peli1 |
T |
A |
11: 21,098,501 (GRCm39) |
I412N |
probably damaging |
Het |
Rmc1 |
A |
G |
18: 12,322,407 (GRCm39) |
N620S |
probably damaging |
Het |
Slc18a2 |
T |
C |
19: 59,275,608 (GRCm39) |
|
probably benign |
Het |
Stx1a |
T |
C |
5: 135,066,323 (GRCm39) |
|
probably benign |
Het |
Syne2 |
G |
A |
12: 76,144,748 (GRCm39) |
D1566N |
probably damaging |
Het |
Syt7 |
G |
T |
19: 10,420,755 (GRCm39) |
E433D |
probably benign |
Het |
Tas2r102 |
G |
A |
6: 132,739,416 (GRCm39) |
W108* |
probably null |
Het |
Trappc11 |
A |
G |
8: 47,981,036 (GRCm39) |
V135A |
possibly damaging |
Het |
Unk |
T |
C |
11: 115,947,160 (GRCm39) |
S598P |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zfp729a |
A |
T |
13: 67,769,805 (GRCm39) |
H141Q |
probably damaging |
Het |
|
Other mutations in Iho1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02138:Iho1
|
APN |
9 |
108,283,820 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02305:Iho1
|
APN |
9 |
108,283,031 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02456:Iho1
|
APN |
9 |
108,283,820 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02936:Iho1
|
APN |
9 |
108,289,702 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03150:Iho1
|
APN |
9 |
108,282,155 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03163:Iho1
|
APN |
9 |
108,282,132 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03280:Iho1
|
APN |
9 |
108,282,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0139:Iho1
|
UTSW |
9 |
108,289,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Iho1
|
UTSW |
9 |
108,305,639 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0744:Iho1
|
UTSW |
9 |
108,282,000 (GRCm39) |
missense |
probably benign |
|
R0836:Iho1
|
UTSW |
9 |
108,282,000 (GRCm39) |
missense |
probably benign |
|
R1792:Iho1
|
UTSW |
9 |
108,282,111 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1918:Iho1
|
UTSW |
9 |
108,290,184 (GRCm39) |
missense |
probably benign |
0.16 |
R2284:Iho1
|
UTSW |
9 |
108,298,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Iho1
|
UTSW |
9 |
108,290,205 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4731:Iho1
|
UTSW |
9 |
108,282,584 (GRCm39) |
missense |
probably benign |
0.00 |
R4819:Iho1
|
UTSW |
9 |
108,283,877 (GRCm39) |
missense |
probably benign |
0.10 |
R4950:Iho1
|
UTSW |
9 |
108,298,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4968:Iho1
|
UTSW |
9 |
108,289,713 (GRCm39) |
missense |
probably benign |
0.11 |
R7131:Iho1
|
UTSW |
9 |
108,294,619 (GRCm39) |
missense |
probably benign |
0.01 |
R7201:Iho1
|
UTSW |
9 |
108,281,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R7950:Iho1
|
UTSW |
9 |
108,282,870 (GRCm39) |
missense |
probably benign |
|
R8778:Iho1
|
UTSW |
9 |
108,282,807 (GRCm39) |
missense |
probably damaging |
0.97 |
R9316:Iho1
|
UTSW |
9 |
108,298,726 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9501:Iho1
|
UTSW |
9 |
108,282,500 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2014-05-07 |