Incidental Mutation 'R4241:Zfr'
| ID |
320227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr
|
| Ensembl Gene |
ENSMUSG00000022201 |
| Gene Name |
zinc finger RNA binding protein |
| Synonyms |
C920030H05Rik |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
12117917-12185769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12149745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 388
(D388E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122941]
[ENSMUST00000128475]
|
| AlphaFold |
O88532 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122941
AA Change: D388E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: D388E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
302 |
N/A |
INTRINSIC |
|
ZnF_U1
|
328 |
362 |
7.79e-6 |
SMART |
|
ZnF_C2H2
|
331 |
355 |
4.94e0 |
SMART |
|
ZnF_U1
|
379 |
413 |
1.84e-7 |
SMART |
|
ZnF_C2H2
|
382 |
406 |
4.65e-1 |
SMART |
|
low complexity region
|
429 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
483 |
N/A |
INTRINSIC |
|
ZnF_U1
|
579 |
613 |
2.01e-8 |
SMART |
|
ZnF_C2H2
|
582 |
606 |
1.31e0 |
SMART |
|
low complexity region
|
630 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
782 |
N/A |
INTRINSIC |
|
DZF
|
784 |
1038 |
5.42e-170 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128475
|
| SMART Domains |
Protein: ENSMUSP00000117207
Gene: ENSMUSG00000022201
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228196
|
| Meta Mutation Damage Score |
0.0989 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired gastrulation, with increased apoptosis and a low mitotic index, and die between embryonic days 8 and 9. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
probably benign |
Het |
|
| Other mutations in Zfr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Zfr
|
APN |
15 |
12,159,732 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01759:Zfr
|
APN |
15 |
12,159,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01935:Zfr
|
APN |
15 |
12,180,798 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02056:Zfr
|
APN |
15 |
12,154,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Zfr
|
APN |
15 |
12,162,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Zfr
|
UTSW |
15 |
12,140,638 (GRCm39) |
nonsense |
probably null |
|
|
PIT4504001:Zfr
|
UTSW |
15 |
12,166,244 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0377:Zfr
|
UTSW |
15 |
12,160,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0678:Zfr
|
UTSW |
15 |
12,184,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Zfr
|
UTSW |
15 |
12,162,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0787:Zfr
|
UTSW |
15 |
12,140,634 (GRCm39) |
missense |
unknown |
|
|
R1464:Zfr
|
UTSW |
15 |
12,146,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Zfr
|
UTSW |
15 |
12,146,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Zfr
|
UTSW |
15 |
12,150,329 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1558:Zfr
|
UTSW |
15 |
12,140,730 (GRCm39) |
missense |
unknown |
|
|
R1619:Zfr
|
UTSW |
15 |
12,150,473 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1924:Zfr
|
UTSW |
15 |
12,160,715 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2163:Zfr
|
UTSW |
15 |
12,162,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2960:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2961:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2962:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2963:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3012:Zfr
|
UTSW |
15 |
12,166,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Zfr
|
UTSW |
15 |
12,154,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Zfr
|
UTSW |
15 |
12,153,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3611:Zfr
|
UTSW |
15 |
12,159,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3825:Zfr
|
UTSW |
15 |
12,166,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3882:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4080:Zfr
|
UTSW |
15 |
12,162,319 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4366:Zfr
|
UTSW |
15 |
12,156,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4375:Zfr
|
UTSW |
15 |
12,118,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4893:Zfr
|
UTSW |
15 |
12,136,628 (GRCm39) |
missense |
unknown |
|
|
R4899:Zfr
|
UTSW |
15 |
12,166,231 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4915:Zfr
|
UTSW |
15 |
12,162,198 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5870:Zfr
|
UTSW |
15 |
12,160,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Zfr
|
UTSW |
15 |
12,146,331 (GRCm39) |
missense |
unknown |
|
|
R6163:Zfr
|
UTSW |
15 |
12,146,331 (GRCm39) |
missense |
unknown |
|
|
R6165:Zfr
|
UTSW |
15 |
12,146,331 (GRCm39) |
missense |
unknown |
|
|
R6187:Zfr
|
UTSW |
15 |
12,146,317 (GRCm39) |
small deletion |
probably benign |
|
|
R6251:Zfr
|
UTSW |
15 |
12,160,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6903:Zfr
|
UTSW |
15 |
12,136,541 (GRCm39) |
missense |
unknown |
|
|
R6959:Zfr
|
UTSW |
15 |
12,150,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Zfr
|
UTSW |
15 |
12,180,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Zfr
|
UTSW |
15 |
12,181,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7212:Zfr
|
UTSW |
15 |
12,146,309 (GRCm39) |
nonsense |
probably null |
|
|
R7373:Zfr
|
UTSW |
15 |
12,140,645 (GRCm39) |
missense |
unknown |
|
|
R7489:Zfr
|
UTSW |
15 |
12,153,068 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7602:Zfr
|
UTSW |
15 |
12,159,763 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7623:Zfr
|
UTSW |
15 |
12,160,614 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7896:Zfr
|
UTSW |
15 |
12,146,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Zfr
|
UTSW |
15 |
12,171,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Zfr
|
UTSW |
15 |
12,135,357 (GRCm39) |
missense |
noncoding transcript |
|
|
R8382:Zfr
|
UTSW |
15 |
12,153,054 (GRCm39) |
nonsense |
probably null |
|
|
R8475:Zfr
|
UTSW |
15 |
12,150,455 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9124:Zfr
|
UTSW |
15 |
12,136,757 (GRCm39) |
missense |
unknown |
|
|
R9493:Zfr
|
UTSW |
15 |
12,180,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9598:Zfr
|
UTSW |
15 |
12,162,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9631:Zfr
|
UTSW |
15 |
12,154,628 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGATCTCATCCATGCTTTC -3'
(R):5'- GCAAGGTTTATAACACACTCAAAGG -3'
Sequencing Primer
(F):5'- AGGGTCTCACCATGTAACTAGCTG -3'
(R):5'- CACACTCAAAGGTTTCAAAAATGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation