Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Znhit6'

242889

Institutional Source

Beutler Lab

Gene Symbol

Znhit6

Ensembl Gene

ENSMUSG00000074182

Gene Name

zinc finger, HIT type 6

Synonyms

2410019A14Rik

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2278 (G1)

Quality Score

100

Status

Not validated

Chromosome

Chromosomal Location

145281960-145310550 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 145281991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143259 (fasta)

Gene Model

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

AlphaFold

Q3UFB2

Predicted Effect

probably benign
Transcript: ENSMUST00000098534

SMART Domains

Protein: ENSMUSP00000096136
Gene: ENSMUSG00000074182

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 benign
Transcript: ENSMUST00000196413

SMART Domains

Protein: ENSMUSP00000143376
Gene: ENSMUSG00000074182

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197604

SMART Domains

Protein: ENSMUSP00000143484
Gene: ENSMUSG00000074182

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197940

Predicted Effect

probably benign
Transcript: ENSMUST00000199033

SMART Domains

Protein: ENSMUSP00000143306
Gene: ENSMUSG00000074182

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200574

SMART Domains

Protein: ENSMUSP00000143259
Gene: ENSMUSG00000074182

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bmp5	T	A	9: 75,683,830 (GRCm39)	N152K	possibly damaging	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gcn1	T	C	5: 115,749,234 (GRCm39)	I1922T	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lypla1	T	G	1: 4,911,321 (GRCm39)		probably null	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGTTTCAGCGCCTGAGAAAG -3'
(R):5'- GTGGTCTTAGTTCCTGCCAG -3'

Sequencing Primer
(F):5'- AGGATGTGGCAAGATCCCC -3'
(R):5'- TGGGCTCCCGTCTAAGTC -3'

Posted On

2014-10-16