Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03280:Iho1'

415562

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) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

108280810-108305683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108282099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 530 (S530G)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076592] [ENSMUST00000192995]

AlphaFold

Q6PDM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076592
AA Change: S530G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: S530G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416 (GRCm39)	S188P	probably benign	Het
Bbs5	A	G	2: 69,497,315 (GRCm39)		probably benign	Het
Cdh13	G	T	8: 120,040,873 (GRCm39)	G693W	probably damaging	Het
Cdh20	T	A	1: 110,036,498 (GRCm39)	Y559*	probably null	Het
Cemip	G	A	7: 83,636,538 (GRCm39)		probably benign	Het
Crem	A	G	18: 3,273,415 (GRCm39)		probably benign	Het
Crygf	A	G	1: 65,967,329 (GRCm39)	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,157,019 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,043,198 (GRCm39)		probably benign	Het
Fkbp15	A	C	4: 62,221,504 (GRCm39)		probably benign	Het
Gabrp	C	T	11: 33,502,616 (GRCm39)	R416Q	probably benign	Het
Impg2	T	A	16: 56,088,631 (GRCm39)	Y1052*	probably null	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Krit1	T	A	5: 3,861,248 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,504,146 (GRCm39)	D57G	probably damaging	Het
Macrod1	A	G	19: 7,174,937 (GRCm39)	E309G	possibly damaging	Het
Notch1	A	T	2: 26,367,886 (GRCm39)		probably benign	Het
Nptx1	T	C	11: 119,435,555 (GRCm39)	T254A	probably damaging	Het
Or12e9	A	T	2: 87,202,467 (GRCm39)	D197V	probably damaging	Het
Pigm	A	G	1: 172,204,420 (GRCm39)	Y52C	probably damaging	Het
Pramel27	A	T	4: 143,578,489 (GRCm39)	T250S	possibly damaging	Het
Rif1	A	G	2: 52,002,611 (GRCm39)	T2022A	probably benign	Het
Rint1	T	A	5: 24,022,076 (GRCm39)	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,309,978 (GRCm39)	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,319,744 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,310,104 (GRCm39)		probably benign	Het
Siglecf	T	G	7: 43,005,354 (GRCm39)	V438G	probably benign	Het
St8sia4	T	A	1: 95,581,499 (GRCm39)		probably benign	Het
Tfeb	T	C	17: 48,096,862 (GRCm39)	F43S	probably benign	Het
Tgm6	A	G	2: 129,980,851 (GRCm39)	Y216C	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	T	2: 76,728,811 (GRCm39)	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Usp24	T	G	4: 106,237,627 (GRCm39)	I1095R	probably damaging	Het
Usp34	C	T	11: 23,304,897 (GRCm39)	H377Y	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
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