Incidental Mutation 'IGL03150:Iho1'
| ID |
411077 |
| 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: 0.073)
|
| Stock # |
IGL03150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108280810-108305683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108282155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 511
(T511K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076592]
[ENSMUST00000192995]
|
| AlphaFold |
Q6PDM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076592
AA Change: T511K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T511K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4700
|
19 |
572 |
4.7e-274 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192995
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,996,596 (GRCm39) |
S399L |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,215 (GRCm39) |
S1387P |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,460,201 (GRCm39) |
D886G |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,015,097 (GRCm39) |
E57K |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,420 (GRCm39) |
K702N |
possibly damaging |
Het |
| Ercc6 |
G |
T |
14: 32,280,531 (GRCm39) |
M709I |
probably damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,082 (GRCm39) |
E379D |
probably benign |
Het |
| Fscb |
C |
T |
12: 64,519,204 (GRCm39) |
G754D |
unknown |
Het |
| Gzmb |
C |
T |
14: 56,497,839 (GRCm39) |
V134I |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,419,246 (GRCm39) |
T4010A |
possibly damaging |
Het |
| Necab3 |
A |
G |
2: 154,396,662 (GRCm39) |
Y55H |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,747,455 (GRCm39) |
N274S |
possibly damaging |
Het |
| Nup54 |
C |
A |
5: 92,576,023 (GRCm39) |
G156V |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,549 (GRCm39) |
C4317S |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,829,758 (GRCm39) |
W960R |
probably damaging |
Het |
| Pax4 |
C |
A |
6: 28,444,338 (GRCm39) |
G239W |
probably null |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,290,955 (GRCm39) |
S502P |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,399,084 (GRCm39) |
R150G |
possibly damaging |
Het |
| Srgap2 |
A |
T |
1: 131,238,338 (GRCm39) |
V658E |
probably damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,528 (GRCm39) |
D6V |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,831 (GRCm39) |
C173R |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,329,643 (GRCm39) |
S529P |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,440,649 (GRCm39) |
P174S |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,060 (GRCm39) |
V209A |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,384 (GRCm39) |
F222L |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,445,091 (GRCm39) |
A374T |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,021,059 (GRCm39) |
W232R |
probably damaging |
Het |
|
| Other mutations in Iho1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01956:Iho1
|
APN |
9 |
108,294,518 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation