Incidental Mutation 'R6948:Zpr1'
ID |
540974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zpr1
|
Ensembl Gene |
ENSMUSG00000032078 |
Gene Name |
ZPR1 zinc finger |
Synonyms |
Zfp259, ZPR1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6948 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
46184362-46193941 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 46184939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034584]
[ENSMUST00000121598]
[ENSMUST00000156440]
[ENSMUST00000156440]
[ENSMUST00000213878]
[ENSMUST00000214202]
[ENSMUST00000215187]
[ENSMUST00000215458]
|
AlphaFold |
Q62384 |
PDB Structure |
Crystal structure of tandem ZPR1 domains [X-RAY DIFFRACTION]
|
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 |
probably null
Transcript: ENSMUST00000156440
|
SMART Domains |
Protein: ENSMUSP00000117725 Gene: ENSMUSG00000032078
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 |
probably null
Transcript: ENSMUST00000156440
|
SMART Domains |
Protein: ENSMUSP00000117725 Gene: ENSMUSG00000032078
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 |
probably benign
Transcript: ENSMUST00000213878
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214202
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215187
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215458
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (36/37) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
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 |
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 |
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'- CGTACAGGGTGTAAACAAGCTG -3'
(R):5'- TTCGCAAAGCACGTTCACC -3'
Sequencing Primer
(F):5'- GTGTAAACAAGCTGAAGTCATTCTCC -3'
(R):5'- GTTCACCACTCAAAGCAGCAG -3'
|
Posted On |
2018-11-28 |