Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Znhit1'

527571

Institutional Source

Beutler Lab

Gene Symbol

Znhit1

Ensembl Gene

ENSMUSG00000059518

Gene Name

zinc finger, HIT domain containing 1

Synonyms

2700001K05Rik

MMRRC Submission

044802-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R6683 (G1)

Quality Score

173.009

Status

Not validated

Chromosome

Chromosomal Location

136982164-136988021 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136982633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 109 (S109T)

Ref Sequence

ENSEMBL: ENSMUSP00000034953 (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 benign
Transcript: ENSMUST00000034953
AA Change: S109T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034953
Gene: ENSMUSG00000059518
AA Change: S109T

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: S110T

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

SMART Domains

Protein: ENSMUSP00000083103
Gene: ENSMUSG00000059518
AA Change: S110T

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 benign
Transcript: ENSMUST00000111090
AA Change: S109T

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

SMART Domains

Protein: ENSMUSP00000106719
Gene: ENSMUSG00000059518
AA Change: S109T

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
AA Change: S114T

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

SMART Domains

Protein: ENSMUSP00000106720
Gene: ENSMUSG00000059518
AA Change: S114T

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

noncoding transcript
Transcript: ENSMUST00000144784

Predicted Effect

probably benign
Transcript: ENSMUST00000156963
AA Change: S109T

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

SMART Domains

Protein: ENSMUSP00000115929
Gene: ENSMUSG00000059518
AA Change: S109T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561		probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het

Other mutations in Znhit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Znhit1	APN	5	136982583	nonsense	probably null
IGL02401:Znhit1	APN	5	136982659	missense	probably damaging	1.00
R0032:Znhit1	UTSW	5	136985047	missense	possibly damaging	0.49
R5107:Znhit1	UTSW	5	136986828	missense	probably benign
R5240:Znhit1	UTSW	5	136982381	splice site	probably null
R5710:Znhit1	UTSW	5	136982602	missense	probably damaging	1.00
R6148:Znhit1	UTSW	5	136982633	missense	probably benign	0.00
R6444:Znhit1	UTSW	5	136982400	missense	probably benign	0.01
R8985:Znhit1	UTSW	5	136982554	missense	probably damaging	1.00
R9566:Znhit1	UTSW	5	136986931	intron	probably benign
X0028:Znhit1	UTSW	5	136985000	missense	probably damaging	0.96

Predicted Primers

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

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

Posted On

2018-07-23