Incidental Mutation 'IGL01935:Zfr'
| ID |
180621 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfr
|
| Ensembl Gene |
ENSMUSG00000022201 |
| Gene Name |
zinc finger RNA binding protein |
| Synonyms |
C920030H05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
12117917-12185769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12180798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 976
(S976P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122941]
|
| AlphaFold |
O88532 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122941
AA Change: S976P
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118911
Gene: ENSMUSG00000022201
AA Change: S976P
| 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 |
noncoding transcript
Transcript: ENSMUST00000140787
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156752
AA Change: S248P
|
| SMART Domains |
Protein: ENSMUSP00000119251
Gene: ENSMUSG00000022201
AA Change: S248P
| 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: ENSMUST00000228426
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
C |
T |
6: 140,583,383 (GRCm39) |
|
probably benign |
Het |
| Akr1c12 |
A |
T |
13: 4,322,244 (GRCm39) |
V266E |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,621,307 (GRCm39) |
T186A |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,366,638 (GRCm39) |
T801A |
probably benign |
Het |
| Card11 |
T |
A |
5: 140,869,301 (GRCm39) |
I832F |
possibly damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,895,296 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,906,889 (GRCm39) |
T455A |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,478,740 (GRCm39) |
Y210F |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,127 (GRCm39) |
V309A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,345,521 (GRCm39) |
V609A |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,126 (GRCm39) |
D3372G |
probably benign |
Het |
| Dtymk |
T |
C |
1: 93,722,465 (GRCm39) |
K113E |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,485,054 (GRCm39) |
F307S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,454,279 (GRCm39) |
V1864E |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,803,541 (GRCm39) |
Y2192C |
probably benign |
Het |
| Hkdc1 |
A |
T |
10: 62,236,165 (GRCm39) |
V459E |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,360,951 (GRCm39) |
D969G |
probably damaging |
Het |
| Irf3 |
A |
G |
7: 44,650,194 (GRCm39) |
T237A |
probably benign |
Het |
| Jade2 |
G |
A |
11: 51,719,211 (GRCm39) |
T245I |
possibly damaging |
Het |
| Kctd8 |
A |
G |
5: 69,497,707 (GRCm39) |
I313T |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,385,284 (GRCm39) |
S835R |
probably benign |
Het |
| Lama2 |
A |
C |
10: 27,298,600 (GRCm39) |
H165Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,158,367 (GRCm39) |
N1617Y |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,652,583 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
A |
13: 65,215,739 (GRCm39) |
M405L |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,515,692 (GRCm39) |
F794I |
probably damaging |
Het |
| Napsa |
G |
T |
7: 44,236,046 (GRCm39) |
A362S |
probably benign |
Het |
| Ncf4 |
A |
T |
15: 78,140,186 (GRCm39) |
D195V |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,012 (GRCm39) |
F4L |
probably benign |
Het |
| Pank4 |
T |
G |
4: 155,063,987 (GRCm39) |
D659E |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,964,590 (GRCm39) |
D252E |
probably benign |
Het |
| Pglyrp2 |
G |
A |
17: 32,637,551 (GRCm39) |
A159V |
probably benign |
Het |
| Phaf1 |
T |
C |
8: 105,966,633 (GRCm39) |
F127L |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppfia4 |
A |
G |
1: 134,245,674 (GRCm39) |
S627P |
probably benign |
Het |
| Ppp1r15b |
T |
C |
1: 133,059,761 (GRCm39) |
F93L |
probably benign |
Het |
| Pramel13 |
C |
T |
4: 144,119,172 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
A |
T |
3: 36,235,200 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
C |
A |
2: 72,064,467 (GRCm39) |
T623K |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,501,668 (GRCm39) |
T184A |
possibly damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,877,056 (GRCm39) |
*709Q |
probably null |
Het |
| St7 |
T |
G |
6: 17,930,822 (GRCm39) |
I442S |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,972,087 (GRCm39) |
H992Q |
probably damaging |
Het |
| Syt14 |
T |
C |
1: 192,615,679 (GRCm39) |
R436G |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,270,793 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,317,418 (GRCm39) |
N1630I |
probably damaging |
Het |
| Tinagl1 |
T |
C |
4: 130,061,794 (GRCm39) |
K180R |
probably damaging |
Het |
| Tmed7 |
T |
C |
18: 46,730,190 (GRCm39) |
T54A |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,379,795 (GRCm39) |
Y48* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,020,069 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,960,577 (GRCm39) |
M496V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb39 |
A |
G |
10: 127,578,235 (GRCm39) |
T270A |
probably benign |
Het |
| Zscan29 |
A |
G |
2: 121,000,538 (GRCm39) |
F23S |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation