Incidental Mutation 'R9316:Iho1'
| ID |
705885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iho1
|
| Ensembl Gene |
ENSMUSG00000047220 |
| Gene Name |
interactor of HORMAD1 1 |
| Synonyms |
Ccdc36, Iho1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108280810-108305683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108298726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 31
(T31A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076592]
|
| AlphaFold |
Q6PDM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076592
AA Change: T31A
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T31A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4700
|
19 |
572 |
4.7e-274 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
91% (32/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
| Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
| Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
| Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
| Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
| Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
| Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
| Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
| Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
| Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
| Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
| Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
| Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
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 |
|
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 |
|
R9501:Iho1
|
UTSW |
9 |
108,282,500 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCACAAACCCATTTAGGATAG -3'
(R):5'- GCAGAGCTACATAATAGAGAGCCTATC -3'
Sequencing Primer
(F):5'- CTGTAATTCCAACAATCAGGAGGCTG -3'
(R):5'- AGAGCCTATCTCAAAACGACG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation