Mutagenetix > Incidental Mutation

Incidental Mutation 'R5107:Znhit1'

393600

Institutional Source

Beutler Lab

Gene Symbol

Znhit1

Ensembl Gene

ENSMUSG00000059518

Gene Name

zinc finger, HIT domain containing 1

Synonyms

2700001K05Rik

MMRRC Submission

042695-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R5107 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

137011048-137016813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137015682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2 (V2A)

Ref Sequence

ENSEMBL: ENSMUSP00000083103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004968] [ENSMUST00000034953] [ENSMUST00000085941] [ENSMUST00000111090] [ENSMUST00000111091] [ENSMUST00000156963] [ENSMUST00000137272]

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 benign
Transcript: ENSMUST00000034953
AA Change: V1A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518
AA Change: V1A

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 benign
Transcript: ENSMUST00000085941
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518
AA Change: V2A

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

noncoding transcript
Transcript: ENSMUST00000102285

Predicted Effect

probably benign
Transcript: ENSMUST00000111090

SMART Domains

Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518

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 benign
Transcript: ENSMUST00000111091

SMART Domains

Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518

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

probably benign
Transcript: ENSMUST00000127100

SMART Domains

Protein: ENSMUSP00000123550
Gene: ENSMUSG00000004846

Domain	Start	End	E-Value	Type
Blast:P4Hc	2	35	2e-11	BLAST
P4Hc	38	200	3.04e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151642

Predicted Effect

probably benign
Transcript: ENSMUST00000156963

SMART Domains

Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518

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

probably benign
Transcript: ENSMUST00000137272

SMART Domains

Protein: ENSMUSP00000120331
Gene: ENSMUSG00000059518

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,472 (GRCm39)	N85S	possibly damaging	Het
Adgre1	A	G	17: 57,708,977 (GRCm39)	Y56C	possibly damaging	Het
Agbl5	C	A	5: 31,049,822 (GRCm39)	P257Q	probably damaging	Het
Angptl2	A	T	2: 33,118,615 (GRCm39)	M130L	probably damaging	Het
Atp6v1f	T	A	6: 29,468,198 (GRCm39)		probably null	Het
Ccdc78	G	A	17: 26,006,454 (GRCm39)	V133M	possibly damaging	Het
Clpx	A	G	9: 65,215,821 (GRCm39)	K145E	possibly damaging	Het
Col18a1	T	C	10: 76,913,057 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Igkv4-54	T	C	6: 69,608,914 (GRCm39)	I24V	possibly damaging	Het
Ikzf3	A	G	11: 98,381,302 (GRCm39)	Y93H	probably damaging	Het
Isl2	T	C	9: 55,449,570 (GRCm39)	V82A	probably benign	Het
Kcnq2	A	T	2: 180,750,340 (GRCm39)		probably benign	Het
Krt4	A	T	15: 101,831,226 (GRCm39)	M225K	possibly damaging	Het
Ksr2	T	C	5: 117,827,673 (GRCm39)	V484A	probably benign	Het
Lrba	T	A	3: 86,267,086 (GRCm39)	V1592E	possibly damaging	Het
Lrrc7	G	A	3: 157,867,533 (GRCm39)	P736L	probably damaging	Het
Mettl8	A	T	2: 70,795,901 (GRCm39)	F376I	probably damaging	Het
Muc5b	T	A	7: 141,409,268 (GRCm39)	H1117Q	unknown	Het
Myh7	T	A	14: 55,223,881 (GRCm39)		probably benign	Het
Myod1	G	T	7: 46,027,218 (GRCm39)	A228S	probably benign	Het
Ntrk1	T	C	3: 87,702,280 (GRCm39)	T58A	probably benign	Het
Or12d17	A	G	17: 37,777,144 (GRCm39)	T16A	probably damaging	Het
Pdcd11	T	A	19: 47,094,893 (GRCm39)	V559E	probably damaging	Het
Pde10a	A	G	17: 9,163,802 (GRCm39)	N191S	probably damaging	Het
Phf3	A	G	1: 30,870,566 (GRCm39)	S161P	probably benign	Het
Pias1	C	A	9: 62,789,510 (GRCm39)	A566S	probably benign	Het
Pik3c2g	T	C	6: 139,612,623 (GRCm39)		probably benign	Het
Pmp22	A	G	11: 63,049,237 (GRCm39)	E160G	probably damaging	Het
Polb	T	C	8: 23,135,062 (GRCm39)		probably null	Het
Prob1	T	C	18: 35,785,989 (GRCm39)	N755S	possibly damaging	Het
Rhou	A	T	8: 124,387,912 (GRCm39)	K215*	probably null	Het
Scaper	A	G	9: 55,487,616 (GRCm39)	S749P	probably damaging	Het
Selenop	A	G	15: 3,305,075 (GRCm39)	E77G	probably damaging	Het
Sema3a	C	A	5: 13,627,572 (GRCm39)	S490*	probably null	Het
Slc26a2	A	G	18: 61,331,632 (GRCm39)	Y600H	probably damaging	Het
Slfn8	A	C	11: 82,907,976 (GRCm39)	I189S	probably damaging	Het
Stab1	T	A	14: 30,885,752 (GRCm39)		probably null	Het
Tbc1d13	G	A	2: 30,036,733 (GRCm39)	E205K	probably damaging	Het
Tex47	C	T	5: 7,354,842 (GRCm39)	R8W	probably benign	Het
Tmem198b	T	C	10: 128,638,156 (GRCm39)	T136A	probably benign	Het
Trim36	T	C	18: 46,305,705 (GRCm39)	Q414R	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Ttn	A	G	2: 76,608,496 (GRCm39)	I16063T	probably damaging	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Ubox5	A	G	2: 130,441,688 (GRCm39)	L333P	probably damaging	Het
Vmn2r19	T	A	6: 123,286,602 (GRCm39)	Y78*	probably null	Het
Wnk4	A	G	11: 101,166,364 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,340,054 (GRCm39)	D765G	probably damaging	Het
Xirp2	G	T	2: 67,342,205 (GRCm39)	G1482V	probably damaging	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
R5240:Znhit1	UTSW	5	137,011,235 (GRCm39)	splice site	probably null
R5710:Znhit1	UTSW	5	137,011,456 (GRCm39)	missense	probably damaging	1.00
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'- TTGGAGAGACAACACATCCTCTC -3'
(R):5'- TGCCCCTATCAAAGATGGCG -3'

Sequencing Primer
(F):5'- TCCCCAACGTCTGCTGAAG -3'
(R):5'- CCCCTATCAAAGATGGCGGAAAG -3'

Posted On

2016-06-15