Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Znhit6'

280458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Znhit6

Ensembl Gene

ENSMUSG00000074182

Gene Name

zinc finger, HIT type 6

Synonyms

2410019A14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

145281960-145310550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 145283859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 43 (C43F)

Ref Sequence

ENSEMBL: ENSMUSP00000143259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098534] [ENSMUST00000196413] [ENSMUST00000197604] [ENSMUST00000197940] [ENSMUST00000199033] [ENSMUST00000200574]

AlphaFold

Q3UFB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098534
AA Change: C211F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182
AA Change: C211F

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
low complexity region	118	150	N/A	INTRINSIC
Pfam:zf-HIT	208	237	4.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000196413
AA Change: C67F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143376
Gene: ENSMUSG00000074182
AA Change: C67F

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	64	93	3.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197604
AA Change: C43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143484
Gene: ENSMUSG00000074182
AA Change: C43F

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	40	69	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197940

Predicted Effect

probably damaging
Transcript: ENSMUST00000199033
AA Change: C43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
AA Change: C43F

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	40	69	4.7e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200574
AA Change: C43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143259
Gene: ENSMUSG00000074182
AA Change: C43F

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	40	69	1.3e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het

Other mutations in Znhit6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Znhit6	APN	3	145,283,915 (GRCm39)	missense	probably damaging	1.00
IGL00969:Znhit6	APN	3	145,300,351 (GRCm39)	splice site	probably benign
IGL01588:Znhit6	APN	3	145,301,962 (GRCm39)	splice site	probably benign
IGL01911:Znhit6	APN	3	145,283,853 (GRCm39)	splice site	probably benign
R1066:Znhit6	UTSW	3	145,284,252 (GRCm39)	missense	probably damaging	1.00
R1115:Znhit6	UTSW	3	145,300,440 (GRCm39)	splice site	probably null
R2278:Znhit6	UTSW	3	145,281,991 (GRCm39)	unclassified	probably benign
R2391:Znhit6	UTSW	3	145,300,413 (GRCm39)	missense	probably damaging	1.00
R2656:Znhit6	UTSW	3	145,283,924 (GRCm39)	critical splice donor site	probably null
R2877:Znhit6	UTSW	3	145,282,409 (GRCm39)	missense	probably benign	0.31
R3825:Znhit6	UTSW	3	145,284,099 (GRCm39)	missense	probably benign	0.17
R4636:Znhit6	UTSW	3	145,306,333 (GRCm39)	splice site	silent
R4636:Znhit6	UTSW	3	145,306,334 (GRCm39)	missense	probably null	0.11
R5295:Znhit6	UTSW	3	145,306,248 (GRCm39)	missense	probably benign	0.41
R5964:Znhit6	UTSW	3	145,282,688 (GRCm39)	missense	possibly damaging	0.66
R5965:Znhit6	UTSW	3	145,284,103 (GRCm39)	missense	possibly damaging	0.80
R6537:Znhit6	UTSW	3	145,300,374 (GRCm39)	missense	probably benign	0.32
X0065:Znhit6	UTSW	3	145,284,241 (GRCm39)	missense	probably benign

Posted On

2015-04-16