Mutagenetix > Incidental Mutation

Incidental Mutation 'R6398:Znhit2'

516083

Institutional Source

Beutler Lab

Gene Symbol

Znhit2

Ensembl Gene

ENSMUSG00000075227

Gene Name

zinc finger, HIT domain containing 2

Synonyms

ORF6, Znhit2-ps

MMRRC Submission

044381-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R6398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6111237-6112498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6112287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 344 (N344S)

Ref Sequence

ENSEMBL: ENSMUSP00000134031 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000159836

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 damaging
Transcript: ENSMUST00000162726
AA Change: N344S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134031
Gene: ENSMUSG00000075227
AA Change: N344S

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

noncoding transcript
Transcript: ENSMUST00000160417

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: 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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160354

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: 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

noncoding transcript
Transcript: ENSMUST00000162549

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

noncoding transcript
Transcript: ENSMUST00000162721

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	T	A	4: 126,342,601 (GRCm39)	Q514L	probably benign	Het
Alpi	G	C	1: 87,027,184 (GRCm39)	T365S	probably damaging	Het
Cbx4	A	T	11: 118,971,908 (GRCm39)	V489E	probably damaging	Het
Ccdc162	T	C	10: 41,503,145 (GRCm39)	D999G	probably damaging	Het
Clspn	A	G	4: 126,457,740 (GRCm39)	E88G	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddx1	A	T	12: 13,295,721 (GRCm39)	I33N	probably damaging	Het
Diaph3	G	A	14: 87,103,922 (GRCm39)	L821F	probably damaging	Het
Duox2	C	T	2: 122,126,851 (GRCm39)	M221I	probably benign	Het
Gm15130	A	T	2: 110,965,787 (GRCm39)	M154K	unknown	Het
Gm3233	G	T	10: 77,595,249 (GRCm39)		probably benign	Het
Heg1	A	C	16: 33,587,145 (GRCm39)	I1327L	probably damaging	Het
Ifnar1	G	A	16: 91,302,303 (GRCm39)		probably null	Het
Itpr1	C	T	6: 108,482,864 (GRCm39)	L2310F	probably damaging	Het
Or5b98	T	C	19: 12,931,681 (GRCm39)	S243P	probably damaging	Het
Pcdhb7	A	G	18: 37,476,487 (GRCm39)	N541S	possibly damaging	Het
Prelp	A	G	1: 133,842,479 (GRCm39)	L222P	probably damaging	Het
Prl8a8	A	G	13: 27,692,412 (GRCm39)	I193T	probably damaging	Het
Prpf4b	G	T	13: 35,084,354 (GRCm39)	R914L	probably damaging	Het
Ptbp2	G	C	3: 119,514,484 (GRCm39)	Q448E	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc9a9	A	T	9: 94,552,280 (GRCm39)	M56L	probably benign	Het
Slfn4	A	G	11: 83,078,000 (GRCm39)	I263V	possibly damaging	Het
Taar2	A	G	10: 23,817,177 (GRCm39)	N239S	probably benign	Het
Trrap	T	A	5: 144,727,680 (GRCm39)	I467N	possibly damaging	Het
Ttc28	T	C	5: 111,424,142 (GRCm39)	Y1439H	probably damaging	Het
Usp34	A	G	11: 23,438,666 (GRCm39)	I3409M	probably benign	Het
Zbbx	G	T	3: 74,985,872 (GRCm39)	N388K	probably damaging	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
R7477:Znhit2	UTSW	19	6,112,501 (GRCm39)	splice site	probably null
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'- AGAAGTTGCCCGAATCCTGC -3'
(R):5'- AAAAGGCACTGCTGACATTCG -3'

Sequencing Primer
(F):5'- AATCCTGCTGGGCGAGG -3'
(R):5'- TGGATACCCAGTTCAGCCAG -3'

Posted On

2018-05-04