Incidental Mutation 'R2284:Iho1'
| ID |
243248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iho1
|
| Ensembl Gene |
ENSMUSG00000047220 |
| Gene Name |
interactor of HORMAD1 1 |
| Synonyms |
Ccdc36, Iho1 |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108280810-108305683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108298672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 49
(E49K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076592]
|
| AlphaFold |
Q6PDM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076592
AA Change: E49K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: E49K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4700
|
19 |
572 |
4.7e-274 |
PFAM |
|
| Meta Mutation Damage Score |
0.4538 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,085,678 (GRCm39) |
S187P |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,491,193 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gldn |
G |
A |
9: 54,193,849 (GRCm39) |
W14* |
probably null |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,581 (GRCm39) |
V81F |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,681 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCACAAACCCATTTAGGATAG -3'
(R):5'- ATCTTCTGAAGTCGTAGCTGTG -3'
Sequencing Primer
(F):5'- CTGTAATTCCAACAATCAGGAGGCTG -3'
(R):5'- AAGTCGTAGCTGTGAGTTATGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation