Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02936:Iho1'

364315

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) question?

Stock #

IGL02936

Quality Score

Status

Chromosome

Chromosomal Location

108280810-108305683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108289702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 173 (I173M)

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: I173M

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: I173M

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,165,687 (GRCm39)	T229I	possibly damaging	Het
Acad11	T	C	9: 103,990,711 (GRCm39)	S439P	probably benign	Het
Acer2	A	T	4: 86,818,796 (GRCm39)	N148I	possibly damaging	Het
Adgre1	A	G	17: 57,785,833 (GRCm39)	I860V	probably benign	Het
Asb2	A	G	12: 103,302,173 (GRCm39)	I125T	probably benign	Het
Atp13a2	G	T	4: 140,729,260 (GRCm39)	L614F	probably benign	Het
Car7	A	G	8: 105,274,854 (GRCm39)	T132A	possibly damaging	Het
Cfap221	T	C	1: 119,912,482 (GRCm39)	D135G	probably damaging	Het
Crtc3	A	G	7: 80,239,511 (GRCm39)	F614L	probably damaging	Het
Csn3	T	G	5: 88,077,992 (GRCm39)	I166S	possibly damaging	Het
Dna2	T	G	10: 62,792,879 (GRCm39)	L298R	probably damaging	Het
Ece1	T	C	4: 137,673,612 (GRCm39)	S387P	probably benign	Het
Fbxo28	C	T	1: 182,169,093 (GRCm39)	G15D	unknown	Het
Fbxw24	A	T	9: 109,454,026 (GRCm39)		probably null	Het
Foxd3	T	A	4: 99,545,052 (GRCm39)	V64E	probably benign	Het
Galnt7	A	C	8: 58,037,248 (GRCm39)	V47G	probably benign	Het
Gcc2	A	T	10: 58,131,962 (GRCm39)	L1453F	probably damaging	Het
Gcnt4	G	A	13: 97,082,919 (GRCm39)	V72I	probably benign	Het
Gm10269	A	C	18: 20,816,010 (GRCm39)		probably null	Het
Hmcn1	T	G	1: 150,573,273 (GRCm39)	Q2125H	probably damaging	Het
Llcfc1	T	A	6: 41,661,593 (GRCm39)	S48T	probably benign	Het
Met	G	T	6: 17,553,396 (GRCm39)	V1061F	probably damaging	Het
Mthfd2	G	A	6: 83,288,342 (GRCm39)	H138Y	probably damaging	Het
Mtus1	A	T	8: 41,452,554 (GRCm39)	D1041E	possibly damaging	Het
Mug2	G	A	6: 122,058,346 (GRCm39)		probably null	Het
Nos3	C	T	5: 24,585,991 (GRCm39)	T878I	probably damaging	Het
Or4c15	A	G	2: 88,760,128 (GRCm39)	M177T	probably benign	Het
Or52b1	A	T	7: 104,979,212 (GRCm39)	Y62*	probably null	Het
Pbrm1	T	A	14: 30,783,470 (GRCm39)	V497D	probably damaging	Het
Plcd1	T	C	9: 118,903,267 (GRCm39)	E471G	probably damaging	Het
Poc1a	A	G	9: 106,162,226 (GRCm39)	T84A	probably damaging	Het
Ppm1f	A	G	16: 16,733,100 (GRCm39)	H209R	probably damaging	Het
Rccd1	T	A	7: 79,966,794 (GRCm39)	K329N	probably damaging	Het
Serpinb9g	A	T	13: 33,678,865 (GRCm39)	N245I	possibly damaging	Het
Slc22a26	A	C	19: 7,768,470 (GRCm39)	F196V	probably damaging	Het
Tial1	G	A	7: 128,044,387 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,946,193 (GRCm39)		probably null	Het
Vmn1r15	A	T	6: 57,235,803 (GRCm39)	K224*	probably null	Het
Wdr72	A	T	9: 74,059,862 (GRCm39)	D424V	probably damaging	Het
Wt1	A	G	2: 104,999,384 (GRCm39)	K308E	probably damaging	Het
Zwint	T	C	10: 72,492,956 (GRCm39)	S193P	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
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

2015-12-18