Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00970:Hoatz'

28244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hoatz

Ensembl Gene

ENSMUSG00000032057

Gene Name

HOATZ cilia and flagella associated protein

Synonyms

4833427G06Rik, Hoatzin

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

IGL00970

Quality Score

Status

Chromosome

Chromosomal Location

50992415-51013378 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 50994886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 148 (K148*)

Ref Sequence

ENSEMBL: ENSMUSP00000126725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170947] [ENSMUST00000214452]

AlphaFold

Q80Y73

Predicted Effect

probably null
Transcript: ENSMUST00000170947
AA Change: K148*

Predicted Effect

probably benign
Transcript: ENSMUST00000214452

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
Adamts19	T	A	18: 59,144,149 (GRCm39)	N910K	possibly damaging	Het
Atp8b5	A	G	4: 43,311,938 (GRCm39)	T184A	probably benign	Het
Cabp7	T	C	11: 4,688,931 (GRCm39)	I180V	probably benign	Het
Casp8ap2	A	G	4: 32,646,182 (GRCm39)	T1752A	probably benign	Het
Dgkb	T	C	12: 38,240,082 (GRCm39)	L453P	probably damaging	Het
Disp2	A	C	2: 118,622,274 (GRCm39)	D1002A	probably damaging	Het
Eif3c	G	A	7: 126,158,180 (GRCm39)	P259S	probably benign	Het
Eif4a3l1	A	G	6: 136,306,109 (GRCm39)	D169G	probably damaging	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fhod1	C	A	8: 106,058,734 (GRCm39)	V745L	possibly damaging	Het
Gprin3	T	C	6: 59,330,822 (GRCm39)	E495G	possibly damaging	Het
Grm5	T	C	7: 87,453,104 (GRCm39)	I247T	probably damaging	Het
Herc2	T	C	7: 55,830,812 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,269,901 (GRCm39)	Q2311K	probably benign	Het
Krt26	T	C	11: 99,222,107 (GRCm39)	Y400C	probably benign	Het
Lct	A	T	1: 128,231,805 (GRCm39)	D681E	probably damaging	Het
Lgalsl	G	T	11: 20,776,493 (GRCm39)	P133Q	probably benign	Het
Man2b2	C	T	5: 36,973,487 (GRCm39)	W76*	probably null	Het
Mylk4	T	C	13: 32,899,905 (GRCm39)	E326G	probably damaging	Het
Odam	T	G	5: 88,034,467 (GRCm39)		probably benign	Het
Pabpc4	T	C	4: 123,180,608 (GRCm39)	I110T	probably damaging	Het
Pcdh15	A	T	10: 74,215,172 (GRCm39)	D47V	probably damaging	Het
Plekhg4	C	T	8: 106,105,067 (GRCm39)	R577C	probably benign	Het
Pnpo	C	A	11: 96,834,618 (GRCm39)	C26F	possibly damaging	Het
Polg	T	C	7: 79,101,493 (GRCm39)	I1071M	probably benign	Het
Prr23a2	A	G	9: 98,739,014 (GRCm39)	D124G	probably benign	Het
Rexo1	C	T	10: 80,386,798 (GRCm39)	V87I	probably damaging	Het
Robo2	C	A	16: 73,693,934 (GRCm39)	V1502L	probably benign	Het
Ruvbl2	A	G	7: 45,078,994 (GRCm39)	L50P	possibly damaging	Het
Ryr3	T	C	2: 112,595,021 (GRCm39)	K2534E	probably damaging	Het
Scfd2	T	C	5: 74,691,595 (GRCm39)	H229R	possibly damaging	Het
Sesn3	A	G	9: 14,232,438 (GRCm39)	D237G	probably damaging	Het
Shank1	T	C	7: 44,003,662 (GRCm39)	S1785P	possibly damaging	Het
Slc11a1	A	G	1: 74,419,821 (GRCm39)	T165A	probably damaging	Het
Star	G	A	8: 26,302,894 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,653,152 (GRCm39)	N575Y	probably damaging	Het
Unc5d	T	C	8: 29,186,456 (GRCm39)	T598A	probably benign	Het
Vmn1r200	A	T	13: 22,579,893 (GRCm39)	Q232L	probably damaging	Het
Wdr31	T	C	4: 62,375,757 (GRCm39)	T233A	probably damaging	Het
Zzef1	G	A	11: 72,806,071 (GRCm39)	R2669Q	probably benign	Het

Other mutations in Hoatz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Hoatz	APN	9	51,011,358 (GRCm39)	missense	probably benign	0.28
IGL02137:Hoatz	APN	9	50,997,408 (GRCm39)	intron	probably benign
R0080:Hoatz	UTSW	9	51,013,102 (GRCm39)	missense	probably benign	0.32
R0082:Hoatz	UTSW	9	51,013,102 (GRCm39)	missense	probably benign	0.32
R0631:Hoatz	UTSW	9	51,013,253 (GRCm39)	missense	probably benign	0.00
R1655:Hoatz	UTSW	9	50,994,921 (GRCm39)	missense	probably damaging	0.98
R2116:Hoatz	UTSW	9	51,012,384 (GRCm39)	missense	possibly damaging	0.74
R2444:Hoatz	UTSW	9	51,011,298 (GRCm39)	critical splice donor site	probably null
R8869:Hoatz	UTSW	9	50,992,832 (GRCm39)	critical splice acceptor site	probably null
R8936:Hoatz	UTSW	9	51,011,298 (GRCm39)	critical splice donor site	probably null

Posted On

2013-04-17