Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Znhit6'

405348

Institutional Source

Beutler Lab

Gene Symbol

Znhit6

Ensembl Gene

ENSMUSG00000074182

Gene Name

zinc finger, HIT type 6

Synonyms

2410019A14Rik

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145281960-145310550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145306248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 251 (D251G)

Ref Sequence

ENSEMBL: ENSMUSP00000143306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098534] [ENSMUST00000199033]

AlphaFold

Q3UFB2

Predicted Effect

probably benign
Transcript: ENSMUST00000098534
AA Change: D419G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182
AA Change: D419G

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

noncoding transcript
Transcript: ENSMUST00000197474

Predicted Effect

probably benign
Transcript: ENSMUST00000199033
AA Change: D251G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182
AA Change: D251G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,438,109 (GRCm39)	E1095K	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Cbln3	T	C	14: 56,120,920 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,785,152 (GRCm39)	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,181,755 (GRCm39)	I148F	probably damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Ighv1-77	T	A	12: 115,825,528 (GRCm39)	S104C	probably damaging	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lrrc7	T	A	3: 157,876,376 (GRCm39)	K571N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Ly6f	A	G	15: 75,143,488 (GRCm39)	Q65R	probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,331,642 (GRCm39)	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,495,986 (GRCm39)	D90N	probably damaging	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,771 (GRCm39)	L800P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATGTTCCTGCACACACTG -3'
(R):5'- AGTAGACAGTAAACGACATCTTCAC -3'

Sequencing Primer
(F):5'- AACTCGATGTGTATGTAGCCTAGGC -3'
(R):5'- GACAGTAAACGACATCTTCACAATTC -3'

Posted On

2016-07-22