Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00160:Znhit6'

1751

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 #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

145281960-145310550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145283915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 62 (S62P)

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: S230P

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

SMART Domains

Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182
AA Change: S230P

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: S86P

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

SMART Domains

Protein: ENSMUSP00000143376
Gene: ENSMUSG00000074182
AA Change: S86P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197604
AA Change: S62P

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

SMART Domains

Protein: ENSMUSP00000143484
Gene: ENSMUSG00000074182
AA Change: S62P

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: S62P

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

SMART Domains

Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
AA Change: S62P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200574
AA Change: S62P

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

SMART Domains

Protein: ENSMUSP00000143259
Gene: ENSMUSG00000074182
AA Change: S62P

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,563,219 (GRCm39)	A387V	probably benign	Het
Adamts3	C	T	5: 90,009,184 (GRCm39)	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,247,804 (GRCm39)	V296A	probably benign	Het
Bdp1	A	T	13: 100,197,706 (GRCm39)	M893K	probably benign	Het
Camk2d	T	A	3: 126,631,921 (GRCm39)	C407*	probably null	Het
Ces1h	T	C	8: 94,084,091 (GRCm39)	D373G	probably benign	Het
Ces2f	A	T	8: 105,676,605 (GRCm39)	N100Y	probably damaging	Het
Ces2f	A	T	8: 105,676,604 (GRCm39)	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnai7	T	A	6: 145,121,016 (GRCm39)	H601L	probably benign	Het
Dnmt3l	A	G	10: 77,893,189 (GRCm39)	D322G	probably damaging	Het
Fam243	T	C	16: 92,117,890 (GRCm39)	K133E	possibly damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Garre1	G	A	7: 33,938,431 (GRCm39)	H1035Y	possibly damaging	Het
Gldc	T	C	19: 30,092,640 (GRCm39)	T760A	probably damaging	Het
Gm6483	T	A	8: 19,741,663 (GRCm39)		noncoding transcript	Het
Hcrtr2	A	T	9: 76,135,437 (GRCm39)	V460D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mrgpra2a	A	T	7: 47,076,286 (GRCm39)	M324K	probably damaging	Het
N4bp3	C	T	11: 51,536,143 (GRCm39)	A230T	probably benign	Het
Nphs1	T	G	7: 30,181,976 (GRCm39)	W1204G	possibly damaging	Het
Obscn	C	A	11: 58,892,883 (GRCm39)	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,296,280 (GRCm39)	D518G	probably damaging	Het
Optc	T	C	1: 133,829,846 (GRCm39)	Y188C	probably damaging	Het
Prss45	C	A	9: 110,670,073 (GRCm39)	A285E	probably damaging	Het
Rcan2	C	T	17: 44,347,960 (GRCm39)	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,026,778 (GRCm39)		probably null	Het
Sorbs1	T	A	19: 40,306,473 (GRCm39)	T1064S	probably damaging	Het
Sptb	T	C	12: 76,669,943 (GRCm39)	K462E	probably damaging	Het
Sstr1	A	G	12: 58,259,536 (GRCm39)	E53G	probably benign	Het
Stxbp2	A	T	8: 3,686,354 (GRCm39)		probably null	Het
Tex35	G	A	1: 156,927,326 (GRCm39)		probably benign	Het
Thnsl1	T	C	2: 21,217,260 (GRCm39)	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,151,188 (GRCm39)	A424V	probably damaging	Het
Unc80	A	T	1: 66,693,554 (GRCm39)	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,163,347 (GRCm39)	E333G	probably null	Het
Vmn1r27	T	C	6: 58,192,119 (GRCm39)	Y245C	probably benign	Het
Zfp488	T	C	14: 33,693,026 (GRCm39)	M46V	probably benign	Het
Zfp566	G	T	7: 29,777,936 (GRCm39)	Q82K	probably benign	Het
Znrf3	T	C	11: 5,239,039 (GRCm39)	H108R	probably damaging	Het

Other mutations in Znhit6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02118:Znhit6	APN	3	145,283,859 (GRCm39)	missense	probably damaging	1.00
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

2011-07-12