Mutagenetix > Incidental Mutation

Incidental Mutation 'R7477:Znhit2'

628205

Institutional Source

Beutler Lab

Gene Symbol

Znhit2

Ensembl Gene

ENSMUSG00000075227

Gene Name

zinc finger, HIT domain containing 2

Synonyms

ORF6, Znhit2-ps

MMRRC Submission

045551-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R7477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6111237-6112498 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 6112501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025713] [ENSMUST00000043074] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000160028] [ENSMUST00000161090] [ENSMUST00000161528] [ENSMUST00000161718] [ENSMUST00000162575] [ENSMUST00000162726] [ENSMUST00000162810] [ENSMUST00000178310] [ENSMUST00000179142]

AlphaFold

Q9QY66

Predicted Effect

probably benign
Transcript: ENSMUST00000007482

SMART Domains

Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338

Domain	Start	End	E-Value	Type
Pfam:Img2	82	166	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025713

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	418	1.6e-141	PFAM
Pfam:DUF1295	250	409	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043074

SMART Domains

Protein: ENSMUSP00000042835
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113543

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	373	9.9e-112	PFAM
Pfam:DUF1295	249	396	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159084

SMART Domains

Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	300	6.4e-75	PFAM
Pfam:ERG4_ERG24	292	391	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160028

SMART Domains

Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161090

SMART Domains

Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161528

SMART Domains

Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	109	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161718

SMART Domains

Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	1	197	5.7e-86	PFAM
Pfam:DUF1295	46	185	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162575

SMART Domains

Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:ERG4_ERG24	51	229	5.5e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162726

SMART Domains

Protein: ENSMUSP00000134031
Gene: ENSMUSG00000075227

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	3	36	2e-15	PFAM
low complexity region	54	97	N/A	INTRINSIC
low complexity region	120	140	N/A	INTRINSIC
low complexity region	167	205	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162810

SMART Domains

Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	9	124	6.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178310

SMART Domains

Protein: ENSMUSP00000136803
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179142

SMART Domains

Protein: ENSMUSP00000136358
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	132	6.7e-34	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	G	T	5: 35,749,447 (GRCm39)	E191*	probably null	Het
Adam26a	T	A	8: 44,022,107 (GRCm39)	E461V	probably damaging	Het
Adamtsl1	G	A	4: 86,333,888 (GRCm39)	R1539Q	probably damaging	Het
Adipor2	A	T	6: 119,338,883 (GRCm39)	H123Q	probably benign	Het
Akap13	C	T	7: 75,398,995 (GRCm39)	S2691L	probably benign	Het
Aldh1l1	T	C	6: 90,575,369 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,124 (GRCm39)	S909R	possibly damaging	Het
Bop1	T	C	15: 76,339,526 (GRCm39)	E273G	probably damaging	Het
Car1	G	A	3: 14,841,343 (GRCm39)	H97Y	probably damaging	Het
Casp14	T	C	10: 78,550,138 (GRCm39)	N170S	probably benign	Het
Ccdc158	A	T	5: 92,798,555 (GRCm39)	L382M	probably damaging	Het
Ccdc18	A	C	5: 108,368,716 (GRCm39)	Q1279H	probably damaging	Het
Cdh18	A	G	15: 23,410,811 (GRCm39)	N432S	probably benign	Het
Ctdp1	T	C	18: 80,483,929 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,916,208 (GRCm39)	I691T	probably damaging	Het
Dnah9	A	G	11: 65,883,557 (GRCm39)	I2562T	probably damaging	Het
Dsp	A	T	13: 38,356,839 (GRCm39)	I240F	probably damaging	Het
Ell	T	C	8: 71,037,868 (GRCm39)	S308P	probably benign	Het
Elmo1	A	G	13: 20,469,489 (GRCm39)	D26G		Het
Fam171a1	T	C	2: 3,226,676 (GRCm39)	V603A	probably benign	Het
Fam83e	G	A	7: 45,378,404 (GRCm39)	G476D	probably damaging	Het
Farp2	A	G	1: 93,508,750 (GRCm39)		probably null	Het
Fcer1a	C	T	1: 173,048,851 (GRCm39)		probably null	Het
Gpr179	G	T	11: 97,226,665 (GRCm39)	T1830K	possibly damaging	Het
Grin3a	G	A	4: 49,719,278 (GRCm39)	P823S	probably damaging	Het
Heatr4	T	A	12: 84,026,604 (GRCm39)	I218F	probably damaging	Het
Il36rn	T	A	2: 24,169,704 (GRCm39)	Y21*	probably null	Het
Jakmip1	A	G	5: 37,330,915 (GRCm39)	T532A	probably benign	Het
Klf11	A	G	12: 24,703,562 (GRCm39)	D16G	probably benign	Het
Lrp1	T	A	10: 127,404,789 (GRCm39)	I1971F	probably damaging	Het
Lrrc9	T	A	12: 72,550,301 (GRCm39)		probably null	Het
Lrrk2	C	T	15: 91,696,528 (GRCm39)	L2439F	probably damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mapk14	G	A	17: 28,964,052 (GRCm39)	D313N	probably damaging	Het
Max	A	T	12: 76,999,960 (GRCm39)	S52T	probably benign	Het
Mrpl23	A	G	7: 142,091,018 (GRCm39)	R80G	possibly damaging	Het
Muc5ac	C	A	7: 141,370,019 (GRCm39)	N3186K	possibly damaging	Het
Mylk2	G	A	2: 152,762,261 (GRCm39)	V511I	probably damaging	Het
Mypn	T	C	10: 62,961,500 (GRCm39)	M1031V	possibly damaging	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Ncbp1	A	T	4: 46,157,897 (GRCm39)	E378D	probably damaging	Het
Nedd9	A	T	13: 41,471,956 (GRCm39)	D174E	probably benign	Het
Nid2	T	A	14: 19,856,041 (GRCm39)	D1255E	probably benign	Het
Nlrc3	A	G	16: 3,782,675 (GRCm39)	C261R	probably damaging	Het
Or5w22	A	G	2: 87,362,431 (GRCm39)	N18S	probably benign	Het
Pgam1	T	A	19: 41,905,255 (GRCm39)	H196Q	probably damaging	Het
Pja2	A	C	17: 64,616,640 (GRCm39)	V85G	possibly damaging	Het
Pkd2	G	A	5: 104,631,108 (GRCm39)	V511M	probably benign	Het
Ppp2cb	T	A	8: 34,105,502 (GRCm39)	S171T	probably benign	Het
Prkab2	T	C	3: 97,566,063 (GRCm39)	F45S	probably damaging	Het
Rabep2	A	T	7: 126,043,990 (GRCm39)		probably null	Het
Rnf41	T	A	10: 128,271,303 (GRCm39)	I71N	probably damaging	Het
Slc5a7	G	A	17: 54,588,787 (GRCm39)	P287S	probably damaging	Het
Smc6	A	G	12: 11,321,808 (GRCm39)	D25G	probably benign	Het
Sptb	A	T	12: 76,675,339 (GRCm39)	L225Q	probably damaging	Het
Tenm4	A	C	7: 96,495,015 (GRCm39)	I1148L	probably damaging	Het
Tnk2	C	A	16: 32,496,709 (GRCm39)		probably null	Het
Trank1	G	A	9: 111,194,025 (GRCm39)	S683N	probably benign	Het
Trp53bp1	A	C	2: 121,066,827 (GRCm39)	V633G	probably benign	Het
Ugt2a3	T	C	5: 87,484,479 (GRCm39)	K182E	possibly damaging	Het
Uncx	A	T	5: 139,533,017 (GRCm39)	T361S	probably benign	Het
Vmn2r11	A	T	5: 109,207,214 (GRCm39)	N35K	possibly damaging	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het
Vmn2r5	C	T	3: 64,399,060 (GRCm39)	V640M	probably damaging	Het
Washc4	T	C	10: 83,410,307 (GRCm39)	Y632H	probably damaging	Het
Xkr6	T	C	14: 63,844,129 (GRCm39)	S51P	possibly damaging	Het
Zer1	C	A	2: 29,997,988 (GRCm39)	K408N	probably null	Het

Other mutations in Znhit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1241:Znhit2	UTSW	19	6,112,288 (GRCm39)	missense	probably damaging	1.00
R2125:Znhit2	UTSW	19	6,112,091 (GRCm39)	missense	probably benign	0.45
R2126:Znhit2	UTSW	19	6,112,091 (GRCm39)	missense	probably benign	0.45
R2270:Znhit2	UTSW	19	6,111,261 (GRCm39)	missense	probably damaging	0.99
R6398:Znhit2	UTSW	19	6,112,287 (GRCm39)	missense	probably damaging	1.00
R8948:Znhit2	UTSW	19	6,111,803 (GRCm39)	nonsense	probably null
R8950:Znhit2	UTSW	19	6,111,803 (GRCm39)	nonsense	probably null
R9025:Znhit2	UTSW	19	6,111,669 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GGCTTGGACCAACGAAAACG -3'
(R):5'- GGTCCAAAAGTCTGACGAGG -3'

Sequencing Primer
(F):5'- TAGACTGTGCCAGAGCCCAC -3'
(R):5'- TGTAGCACACAGGACGCCTC -3'

Posted On

2020-02-05