Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Zpr1'

61566

Institutional Source

Beutler Lab

Gene Symbol

Zpr1

Ensembl Gene

ENSMUSG00000032078

Gene Name

ZPR1 zinc finger

Synonyms

Zfp259, ZPR1

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0674 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

46184362-46193941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46186747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 194 (L194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117725 (fasta)

Gene Model

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

AlphaFold

Q62384

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034583
AA Change: L194Q

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

SMART Domains

Protein: ENSMUSP00000034583
Gene: ENSMUSG00000032078
AA Change: L194Q

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

unknown
Transcript: ENSMUST00000114552
AA Change: L136Q

SMART Domains

Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078
AA Change: L136Q

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: L194Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078
AA Change: L194Q

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: ENSMUST00000213878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215484

Meta Mutation Damage Score

0.2716

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,657,130 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,543,315 (GRCm39)	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,067,102 (GRCm39)		probably benign	Het
Atp2a3	T	C	11: 72,872,711 (GRCm39)	I753T	probably damaging	Het
Bace2	G	A	16: 97,237,949 (GRCm39)	V467M	possibly damaging	Het
Bltp1	T	A	3: 37,098,775 (GRCm39)	V1134E	possibly damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cd2ap	T	A	17: 43,156,283 (GRCm39)	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 126,794,008 (GRCm39)	E94K	probably damaging	Het
Chrna3	C	A	9: 54,922,456 (GRCm39)	A451S	probably damaging	Het
Cmya5	C	A	13: 93,229,299 (GRCm39)	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,050,550 (GRCm39)	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,385,872 (GRCm39)	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,727,393 (GRCm39)	P96L	probably damaging	Het
Ddr1	G	T	17: 36,000,561 (GRCm39)	S368*	probably null	Het
E2f1	T	C	2: 154,406,029 (GRCm39)	K115E	probably damaging	Het
Erlec1	A	T	11: 30,885,073 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,571,948 (GRCm39)		probably benign	Het
Gml	G	A	15: 74,685,709 (GRCm39)	T92I	probably damaging	Het
Herc1	T	C	9: 66,408,474 (GRCm39)	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,017,591 (GRCm39)	S5P	probably benign	Het
Itgam	T	C	7: 127,715,390 (GRCm39)	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,127,086 (GRCm39)	N178I	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,270,768 (GRCm39)	T997I	possibly damaging	Het
Maml1	G	T	11: 50,148,885 (GRCm39)	Q952K	probably benign	Het
Map2	A	G	1: 66,452,361 (GRCm39)	E499G	probably damaging	Het
Map4k4	A	T	1: 40,042,975 (GRCm39)	H118L	probably damaging	Het
Myzap	T	C	9: 71,422,426 (GRCm39)	D382G	probably damaging	Het
Naip5	T	C	13: 100,359,707 (GRCm39)	T510A	probably benign	Het
Nek6	G	C	2: 38,448,916 (GRCm39)	G95R	possibly damaging	Het
Nphp3	T	C	9: 103,913,481 (GRCm39)		probably null	Het
Nr1d2	T	C	14: 18,215,086 (GRCm38)	S309G	probably benign	Het
Nrcam	A	T	12: 44,611,105 (GRCm39)	I570F	probably benign	Het
Oas1d	T	C	5: 121,058,049 (GRCm39)	I331T	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4f14	A	T	2: 111,743,018 (GRCm39)	F86I	probably benign	Het
Or51b6	T	C	7: 103,556,462 (GRCm39)	V272A	probably benign	Het
Pex5l	A	T	3: 33,006,765 (GRCm39)	W535R	probably damaging	Het
Pisd	C	T	5: 32,931,781 (GRCm39)	R202H	probably benign	Het
Plxna2	A	G	1: 194,331,783 (GRCm39)	N403S	probably benign	Het
Prdm12	A	G	2: 31,533,924 (GRCm39)	I180M	probably benign	Het
Prpf6	A	G	2: 181,273,767 (GRCm39)	T304A	probably benign	Het
Ptprm	G	A	17: 67,498,336 (GRCm39)	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,132,148 (GRCm39)	I223N	probably damaging	Het
Pygb	G	A	2: 150,657,054 (GRCm39)		probably null	Het
Qrsl1	A	G	10: 43,771,997 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,508,818 (GRCm39)		probably null	Het
Ralbp1	C	T	17: 66,159,748 (GRCm39)	R505H	probably benign	Het
Rimbp3	T	C	16: 17,030,601 (GRCm39)	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,007,608 (GRCm39)	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,032,498 (GRCm39)		probably benign	Het
Tcp1	T	C	17: 13,142,131 (GRCm39)	I375T	probably damaging	Het
Tiparp	T	C	3: 65,460,586 (GRCm39)	I525T	probably benign	Het
Tjp2	A	G	19: 24,108,680 (GRCm39)	L144P	probably benign	Het
Tssk2	A	G	16: 17,716,930 (GRCm39)	D111G	probably benign	Het
Ttn	T	C	2: 76,775,823 (GRCm39)	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vsig10	C	T	5: 117,481,911 (GRCm39)	T367M	probably damaging	Het
Wnt11	T	C	7: 98,495,735 (GRCm39)	C80R	probably damaging	Het
Zar1	T	A	5: 72,737,643 (GRCm39)		probably null	Het
Zfp52	A	T	17: 21,782,108 (GRCm39)	H652L	probably damaging	Het

Other mutations in Zpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02960:Zpr1	APN	9	46,184,849 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTCCCCACTGAGACGAAGTTAC -3'
(R):5'- AGCATAGCCTAGCCTGGCCTATAC -3'

Sequencing Primer
(F):5'- CTCCCAGTCTAAGTGGATGTTAAG -3'
(R):5'- CCTATACCGTGCTATGAAGTCAAGG -3'

Posted On

2013-07-30