Incidental Mutation 'R2163:Zfr'
| ID |
235312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr
|
| Ensembl Gene |
ENSMUSG00000022201 |
| Gene Name |
zinc finger RNA binding protein |
| Synonyms |
C920030H05Rik |
| MMRRC Submission |
040166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2163 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
12117917-12185769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12162309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 820
(L820I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122941]
|
| AlphaFold |
O88532 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122941
AA Change: L820I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: L820I
| 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: ENSMUST00000155054
|
| SMART Domains |
Protein: ENSMUSP00000114992
Gene: ENSMUSG00000022201
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
53 |
N/A |
INTRINSIC |
|
PDB:4ATB|D
|
56 |
94 |
6e-11 |
PDB |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156752
AA Change: L92I
|
| SMART Domains |
Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: L92I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
52 |
N/A |
INTRINSIC |
|
DZF
|
57 |
299 |
1.79e-152 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158625
|
| Meta Mutation Damage Score |
0.4502 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
| Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
| Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
| Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,329,720 (GRCm39) |
S192G |
probably damaging |
Het |
| Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
| Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
| Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
| Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
| Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
| Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
| Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
| Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
| Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
| Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,822 (GRCm39) |
F631L |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
| Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
| Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
| Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,603,543 (GRCm39) |
|
probably benign |
Het |
| Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
| Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,926,664 (GRCm39) |
T554I |
possibly damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
| Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
| Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
| Tap1 |
A |
T |
17: 34,408,447 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
| Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
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 |
|
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 |
|
R4241:Zfr
|
UTSW |
15 |
12,149,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GACATATAGTCTGTCGGTGTAATTG -3'
(R):5'- CAAATTACAGTACTGCAGATCCTC -3'
Sequencing Primer
(F):5'- AGCTCTGAAAGGGGTGTT -3'
(R):5'- GGTGTGTGTACAAAACCAAAACC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation