Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Iho1'

281417

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 #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

108280810-108305683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108283820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 208 (T208I)

Ref Sequence

ENSEMBL: ENSMUSP00000075898 (fasta)

Gene Model

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

AlphaFold

Q6PDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000076592
AA Change: T208I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: T208I

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	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
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
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

2015-04-16