Mutagenetix > Incidental Mutation

Incidental Mutation 'R5710:Znhit1'

452163

Institutional Source

Beutler Lab

Gene Symbol

Znhit1

Ensembl Gene

ENSMUSG00000059518

Gene Name

zinc finger, HIT domain containing 1

Synonyms

2700001K05Rik

MMRRC Submission

044396-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R5710 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137011048-137016813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137011456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 119 (C119Y)

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 damaging
Transcript: ENSMUST00000034953
AA Change: C119Y

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

SMART Domains

Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518
AA Change: C119Y

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 damaging
Transcript: ENSMUST00000085941
AA Change: C120Y

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

SMART Domains

Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518
AA Change: C120Y

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 damaging
Transcript: ENSMUST00000111090
AA Change: C119Y

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

SMART Domains

Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518
AA Change: C119Y

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 damaging
Transcript: ENSMUST00000111091
AA Change: C124Y

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

SMART Domains

Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518
AA Change: C124Y

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 damaging
Transcript: ENSMUST00000156963
AA Change: C119Y

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

SMART Domains

Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518
AA Change: C119Y

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	G	A	14: 68,847,357 (GRCm39)	H713Y	probably damaging	Het
Adam39	A	T	8: 41,277,684 (GRCm39)	Y25F	probably benign	Het
Ankfn1	T	C	11: 89,394,751 (GRCm39)	N278S	probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap18	G	A	10: 26,736,729 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,081,732 (GRCm39)	Q107P	probably benign	Het
Btbd9	A	G	17: 30,447,842 (GRCm39)	S525P	probably benign	Het
Cabin1	A	G	10: 75,482,852 (GRCm39)	S2093P	probably benign	Het
Ccnd1	T	C	7: 144,491,781 (GRCm39)	D86G	possibly damaging	Het
Chdh	C	A	14: 29,756,584 (GRCm39)	Q337K	probably damaging	Het
Cldn9	T	C	17: 23,902,421 (GRCm39)	D68G	probably damaging	Het
Cpt1b	T	A	15: 89,309,409 (GRCm39)	K41N	probably damaging	Het
Dsg1c	T	C	18: 20,405,408 (GRCm39)	Y274H	probably benign	Het
Eif2ak3	T	A	6: 70,860,717 (GRCm39)	I431N	probably damaging	Het
Erbb2	T	A	11: 98,317,906 (GRCm39)	W416R	probably damaging	Het
Fgd3	T	A	13: 49,450,205 (GRCm39)	I15F	probably benign	Het
Fkbp14	T	A	6: 54,566,255 (GRCm39)		probably null	Het
Havcr1	T	C	11: 46,643,353 (GRCm39)	V91A	probably damaging	Het
Kmt2d	T	C	15: 98,751,987 (GRCm39)		probably benign	Het
Lipc	T	A	9: 70,719,979 (GRCm39)	I343F	probably benign	Het
Madd	T	C	2: 90,984,821 (GRCm39)	T1331A	probably damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Mdga2	C	A	12: 66,553,556 (GRCm39)	L98F	probably damaging	Het
Micall1	C	A	15: 79,011,290 (GRCm39)	H553Q	probably damaging	Het
Mxd4	A	G	5: 34,344,671 (GRCm39)		probably null	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Prtg	T	A	9: 72,716,922 (GRCm39)	Y88N	probably damaging	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Sclt1	C	A	3: 41,618,398 (GRCm39)	E14*	probably null	Het
Shfl	G	T	9: 20,784,192 (GRCm39)	R138L	possibly damaging	Het
Strn	G	A	17: 78,995,028 (GRCm39)	L162F	probably damaging	Het
T	T	C	17: 8,660,474 (GRCm39)	S221P	probably benign	Het
Tbl1xr1	A	G	3: 22,264,578 (GRCm39)	D511G	probably damaging	Het
Ttc7	A	C	17: 87,597,674 (GRCm39)	N82T	probably damaging	Het
Ttn	C	T	2: 76,747,786 (GRCm39)	R4421H	possibly damaging	Het
Uaca	T	A	9: 60,779,093 (GRCm39)	L1158Q	probably damaging	Het
Vdr	T	C	15: 97,757,008 (GRCm39)	Y288C	probably damaging	Het
Vdr	A	T	15: 97,765,089 (GRCm39)	S217T	probably benign	Het
Zhx2	T	A	15: 57,684,866 (GRCm39)	Y78*	probably null	Het

Other mutations in Znhit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Znhit1	APN	5	137,011,437 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCCACTTCAGACACCTGCAG -3'
(R):5'- GAAGGCTCAGTCTGAGGTTG -3'

Sequencing Primer
(F):5'- TTCAGACACCTGCAGAAAGAG -3'
(R):5'- TTGGGACCCTAGAGAGCAC -3'

Posted On

2017-01-03