Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02960:Zpr1'

365306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zpr1

Ensembl Gene

ENSMUSG00000032078

Gene Name

ZPR1 zinc finger

Synonyms

Zfp259, ZPR1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02960

Quality Score

Status

Chromosome

Chromosomal Location

46184362-46193941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46184849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 82 (H82R)

Ref Sequence

ENSEMBL: ENSMUSP00000117725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034584] [ENSMUST00000121598] [ENSMUST00000156440] [ENSMUST00000215187] [ENSMUST00000215458] [ENSMUST00000213878] [ENSMUST00000214202]

AlphaFold

Q62384

PDB Structure

Crystal structure of tandem ZPR1 domains [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034583
AA Change: H82R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034583
Gene: ENSMUSG00000032078
AA Change: H82R

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
Zpr1	49	207	1.47e-93	SMART
low complexity region	236	246	N/A	INTRINSIC
Zpr1	257	387	1.56e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034584

SMART Domains

Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079

Domain	Start	End	E-Value	Type
Pfam:Apolipoprotein	52	264	5.1e-59	PFAM
Pfam:Apolipoprotein	258	315	1.8e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114552

SMART Domains

Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078

Domain	Start	End	E-Value	Type
Zpr1	12	150	5.57e-30	SMART
Zpr1	184	343	4.27e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121598

SMART Domains

Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079

Domain	Start	End	E-Value	Type
Pfam:Apolipoprotein	51	305	8.1e-66	PFAM
low complexity region	312	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125239

SMART Domains

Protein: ENSMUSP00000123437
Gene: ENSMUSG00000032078

Domain	Start	End	E-Value	Type
low complexity region	11	32	N/A	INTRINSIC
Blast:Zpr1	33	59	2e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141763

Predicted Effect

probably damaging
Transcript: ENSMUST00000156440
AA Change: H82R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078
AA Change: H82R

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
Zpr1	49	207	1.47e-93	SMART
low complexity region	236	246	N/A	INTRINSIC
Zpr1	257	416	4.27e-90	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143511

Predicted Effect

probably benign
Transcript: ENSMUST00000215187

Predicted Effect

probably benign
Transcript: ENSMUST00000215458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215484

Predicted Effect

probably benign
Transcript: ENSMUST00000213878

Predicted Effect

probably benign
Transcript: ENSMUST00000214202

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice display embryonic lethality, fail to form a normal trophectoderm and fail to expand the inner cell mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,257 (GRCm39)	R14C	probably benign	Het
Adam29	A	T	8: 56,325,701 (GRCm39)	L251*	probably null	Het
Atpaf2	T	C	11: 60,296,650 (GRCm39)	E161G	probably damaging	Het
Brwd1	T	C	16: 95,858,666 (GRCm39)	D381G	probably damaging	Het
Cept1	T	A	3: 106,446,712 (GRCm39)	R45*	probably null	Het
Col3a1	A	G	1: 45,367,615 (GRCm39)	E273G	unknown	Het
Cuzd1	T	C	7: 130,921,832 (GRCm39)	N57D	probably benign	Het
Cyp2b13	A	G	7: 25,761,101 (GRCm39)	K53E	probably benign	Het
Fadd	T	C	7: 144,134,276 (GRCm39)	E203G	probably benign	Het
Gm3159	G	A	14: 4,400,552 (GRCm38)		probably null	Het
Gpr137c	T	C	14: 45,483,890 (GRCm39)	F206L	possibly damaging	Het
Hephl1	G	T	9: 14,995,615 (GRCm39)	T471N	probably damaging	Het
Ido1	A	T	8: 25,083,345 (GRCm39)		probably benign	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,285,797 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,147,025 (GRCm39)	L613H	probably damaging	Het
Mettl14	A	G	3: 123,168,534 (GRCm39)	Y169H	probably damaging	Het
Nlrp4a	A	G	7: 26,149,155 (GRCm39)	Q254R	probably benign	Het
Or4c15	A	C	2: 88,760,128 (GRCm39)	M177R	possibly damaging	Het
Or7c70	A	T	10: 78,683,371 (GRCm39)	I126N	probably damaging	Het
Pira12	T	C	7: 3,900,078 (GRCm39)	T175A	possibly damaging	Het
Pkhd1	A	T	1: 20,447,670 (GRCm39)	M2241K	possibly damaging	Het
Ptprd	G	A	4: 76,047,105 (GRCm39)	S387L	probably damaging	Het
Ryr1	A	C	7: 28,759,478 (GRCm39)	L3264R	probably damaging	Het
Serpina16	G	A	12: 103,641,638 (GRCm39)	T29I	probably benign	Het
Slc9a7	A	G	X: 20,052,382 (GRCm39)	M237T	probably benign	Het
Tbck	A	G	3: 132,428,544 (GRCm39)	T300A	probably benign	Het
Tcaf1	A	C	6: 42,663,393 (GRCm39)	D162E	probably benign	Het
Unc80	G	A	1: 66,717,217 (GRCm39)		probably benign	Het
Usp17le	A	C	7: 104,417,947 (GRCm39)	H398Q	probably benign	Het
Utp15	G	A	13: 98,389,389 (GRCm39)	T303M	probably benign	Het
Vmn2r86	A	C	10: 130,289,636 (GRCm39)	D86E	possibly damaging	Het
Zmym2	T	A	14: 57,175,870 (GRCm39)	C822S	probably benign	Het
Zp3r	T	C	1: 130,511,175 (GRCm39)	D336G	possibly damaging	Het

Other mutations in Zpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0077:Zpr1	UTSW	9	46,184,634 (GRCm39)	missense	probably damaging	1.00
R0081:Zpr1	UTSW	9	46,190,995 (GRCm39)	missense	probably damaging	0.99
R0674:Zpr1	UTSW	9	46,186,747 (GRCm39)	missense	probably damaging	1.00
R2419:Zpr1	UTSW	9	46,187,490 (GRCm39)	splice site	probably benign
R4956:Zpr1	UTSW	9	46,185,961 (GRCm39)	missense	probably damaging	1.00
R4979:Zpr1	UTSW	9	46,189,640 (GRCm39)	missense	probably benign	0.20
R5566:Zpr1	UTSW	9	46,192,373 (GRCm39)	missense	possibly damaging	0.88
R6480:Zpr1	UTSW	9	46,186,009 (GRCm39)	missense	probably benign	0.01
R6948:Zpr1	UTSW	9	46,184,939 (GRCm39)	critical splice donor site	probably null
R7139:Zpr1	UTSW	9	46,192,357 (GRCm39)	missense	probably damaging	1.00
R7366:Zpr1	UTSW	9	46,184,671 (GRCm39)	splice site	probably null
R7996:Zpr1	UTSW	9	46,184,863 (GRCm39)	missense	possibly damaging	0.95
R8169:Zpr1	UTSW	9	46,189,645 (GRCm39)	missense	possibly damaging	0.91
R8406:Zpr1	UTSW	9	46,185,400 (GRCm39)	missense	probably damaging	1.00
R8829:Zpr1	UTSW	9	46,192,344 (GRCm39)	nonsense	probably null
R9044:Zpr1	UTSW	9	46,190,995 (GRCm39)	missense	probably damaging	0.99
R9408:Zpr1	UTSW	9	46,186,747 (GRCm39)	missense	probably damaging	1.00
R9602:Zpr1	UTSW	9	46,184,663 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18