Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Znhit1'

15047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znhit1

Ensembl Gene

ENSMUSG00000059518

Gene Name

zinc finger, HIT domain containing 1

Synonyms

2700001K05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

137011048-137016813 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 137011437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 125 (Y125*)

Ref Sequence

ENSEMBL: ENSMUSP00000115929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004968] [ENSMUST00000034953] [ENSMUST00000085941] [ENSMUST00000111090] [ENSMUST00000111091] [ENSMUST00000137272] [ENSMUST00000156963]

AlphaFold

Q8R331

Predicted Effect

probably benign
Transcript: ENSMUST00000004968

SMART Domains

Protein: ENSMUSP00000004968
Gene: ENSMUSG00000004846

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	312	324	N/A	INTRINSIC
Blast:P4Hc	456	502	2e-8	BLAST
P4Hc	567	740	1.43e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000034953
AA Change: Y125*

SMART Domains

Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518
AA Change: Y125*

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	6.3e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000085941
AA Change: Y126*

SMART Domains

Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518
AA Change: Y126*

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
Pfam:zf-HIT	113	142	3e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111090
AA Change: Y125*

SMART Domains

Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518
AA Change: Y125*

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	2.2e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111091
AA Change: Y130*

SMART Domains

Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518
AA Change: Y130*

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
low complexity region	63	78	N/A	INTRINSIC
Pfam:zf-HIT	117	146	2.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129896

Predicted Effect

probably benign
Transcript: ENSMUST00000137272

SMART Domains

Protein: ENSMUSP00000120331
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156963
AA Change: Y125*

SMART Domains

Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518
AA Change: Y125*

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:zf-HIT	112	141	6.7e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144784

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Arhgef6	T	A	X: 56,290,992 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Depdc1a	A	T	3: 159,228,375 (GRCm39)	R376*	probably null	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sltm	G	T	9: 70,486,624 (GRCm39)	V430L	probably damaging	Het
Sphkap	A	G	1: 83,256,565 (GRCm39)	S395P	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Tmc3	A	C	7: 83,252,682 (GRCm39)	E361A	probably null	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het

Other mutations in Znhit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Znhit1	APN	5	137,011,513 (GRCm39)	missense	probably damaging	1.00
R0032:Znhit1	UTSW	5	137,013,901 (GRCm39)	missense	possibly damaging	0.49
R5107:Znhit1	UTSW	5	137,015,682 (GRCm39)	missense	probably benign
R5240:Znhit1	UTSW	5	137,011,235 (GRCm39)	splice site	probably null
R5710:Znhit1	UTSW	5	137,011,456 (GRCm39)	missense	probably damaging	1.00
R6148:Znhit1	UTSW	5	137,011,487 (GRCm39)	missense	probably benign	0.00
R6444:Znhit1	UTSW	5	137,011,254 (GRCm39)	missense	probably benign	0.01
R6683:Znhit1	UTSW	5	137,011,487 (GRCm39)	missense	probably benign	0.00
R8985:Znhit1	UTSW	5	137,011,408 (GRCm39)	missense	probably damaging	1.00
R9566:Znhit1	UTSW	5	137,015,785 (GRCm39)	intron	probably benign
X0028:Znhit1	UTSW	5	137,013,854 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-12-06