Incidental Mutation 'R8389:Zfr2'
| ID |
647290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr2
|
| Ensembl Gene |
ENSMUSG00000034949 |
| Gene Name |
zinc finger RNA binding protein 2 |
| Synonyms |
2010013I23Rik, 9130206N08Rik |
| MMRRC Submission |
067754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81081323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 458
(W458R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
|
| AlphaFold |
E9Q5M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117798
AA Change: W458R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: W458R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
163 |
N/A |
INTRINSIC |
|
ZnF_U1
|
202 |
236 |
3.58e-5 |
SMART |
|
ZnF_C2H2
|
205 |
229 |
7.68e0 |
SMART |
|
ZnF_U1
|
249 |
283 |
3.78e-4 |
SMART |
|
ZnF_C2H2
|
252 |
276 |
4.12e0 |
SMART |
|
ZnF_U1
|
397 |
431 |
3.78e-4 |
SMART |
|
ZnF_C2H2
|
400 |
424 |
1.99e0 |
SMART |
|
low complexity region
|
484 |
508 |
N/A |
INTRINSIC |
|
DZF
|
585 |
837 |
2.06e-129 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137999
|
| SMART Domains |
Protein: ENSMUSP00000120853
Gene: ENSMUSG00000034949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DZF
|
2 |
162 |
1.3e-32 |
PFAM |
|
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
C |
T |
1: 66,893,906 (GRCm39) |
G83E |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,993,136 (GRCm39) |
D722G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,756,322 (GRCm39) |
D25E |
|
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,957,132 (GRCm39) |
Y634H |
probably damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,851,301 (GRCm39) |
E820G |
probably damaging |
Het |
| Chad |
A |
G |
11: 94,458,718 (GRCm39) |
D289G |
probably benign |
Het |
| Col4a2 |
C |
A |
8: 11,498,132 (GRCm39) |
A1647E |
probably damaging |
Het |
| Dhx32 |
G |
T |
7: 133,326,935 (GRCm39) |
T522K |
possibly damaging |
Het |
| Eloa |
A |
G |
4: 135,733,622 (GRCm39) |
V707A |
probably benign |
Het |
| Fam219a |
A |
G |
4: 41,520,935 (GRCm39) |
S109P |
probably damaging |
Het |
| Ftl1 |
A |
T |
7: 45,108,651 (GRCm39) |
F36I |
probably benign |
Het |
| Furin |
C |
T |
7: 80,040,627 (GRCm39) |
R737Q |
probably benign |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gpt |
C |
T |
15: 76,583,242 (GRCm39) |
T393M |
probably damaging |
Het |
| Greb1l |
A |
T |
18: 10,529,613 (GRCm39) |
D865V |
probably benign |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lcn11 |
A |
T |
2: 25,669,043 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,080,742 (GRCm39) |
V161D |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,584,194 (GRCm39) |
L318S |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,516 (GRCm39) |
T2821A |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,849 (GRCm39) |
M250T |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,819,268 (GRCm39) |
K27E |
probably damaging |
Het |
| Omg |
T |
A |
11: 79,393,001 (GRCm39) |
M286L |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,355,931 (GRCm39) |
M1I |
probably null |
Het |
| Or8g32 |
A |
G |
9: 39,305,912 (GRCm39) |
K272R |
probably damaging |
Het |
| Pdyn |
A |
G |
2: 129,530,357 (GRCm39) |
L104P |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,846,888 (GRCm39) |
L218R |
probably damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,080,758 (GRCm39) |
M1L |
unknown |
Het |
| Pofut2 |
C |
T |
10: 77,101,785 (GRCm39) |
T274M |
probably benign |
Het |
| Pramel34 |
A |
T |
5: 93,785,587 (GRCm39) |
F231Y |
probably benign |
Het |
| Rbm12b1 |
C |
A |
4: 12,146,363 (GRCm39) |
D778E |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tbc1d14 |
G |
A |
5: 36,687,792 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,127,464 (GRCm39) |
K89E |
probably benign |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,639,853 (GRCm39) |
V119A |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,401,168 (GRCm39) |
Y84N |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,327 (GRCm39) |
C354S |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,549 (GRCm39) |
T28I |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp959 |
T |
C |
17: 56,204,299 (GRCm39) |
V112A |
probably benign |
Het |
|
| Other mutations in Zfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Zfr2
|
APN |
10 |
81,077,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01622:Zfr2
|
APN |
10 |
81,087,193 (GRCm39) |
missense |
probably benign |
|
|
IGL01623:Zfr2
|
APN |
10 |
81,087,193 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Zfr2
|
APN |
10 |
81,080,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Zfr2
|
APN |
10 |
81,077,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0302:Zfr2
|
UTSW |
10 |
81,087,170 (GRCm39) |
unclassified |
probably benign |
|
|
R0837:Zfr2
|
UTSW |
10 |
81,081,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Zfr2
|
UTSW |
10 |
81,083,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1714:Zfr2
|
UTSW |
10 |
81,080,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Zfr2
|
UTSW |
10 |
81,077,919 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1991:Zfr2
|
UTSW |
10 |
81,078,686 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2134:Zfr2
|
UTSW |
10 |
81,078,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Zfr2
|
UTSW |
10 |
81,077,950 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2150:Zfr2
|
UTSW |
10 |
81,077,950 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3703:Zfr2
|
UTSW |
10 |
81,081,913 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3704:Zfr2
|
UTSW |
10 |
81,081,913 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3705:Zfr2
|
UTSW |
10 |
81,081,913 (GRCm39) |
missense |
probably benign |
0.40 |
|
R3715:Zfr2
|
UTSW |
10 |
81,081,913 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4301:Zfr2
|
UTSW |
10 |
81,078,018 (GRCm39) |
unclassified |
probably benign |
|
|
R4654:Zfr2
|
UTSW |
10 |
81,087,083 (GRCm39) |
splice site |
probably null |
|
|
R4811:Zfr2
|
UTSW |
10 |
81,079,547 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5290:Zfr2
|
UTSW |
10 |
81,082,544 (GRCm39) |
frame shift |
probably null |
|
|
R5781:Zfr2
|
UTSW |
10 |
81,079,547 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7114:Zfr2
|
UTSW |
10 |
81,080,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Zfr2
|
UTSW |
10 |
81,078,649 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8359:Zfr2
|
UTSW |
10 |
81,078,653 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8827:Zfr2
|
UTSW |
10 |
81,078,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8953:Zfr2
|
UTSW |
10 |
81,084,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9086:Zfr2
|
UTSW |
10 |
81,076,029 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9189:Zfr2
|
UTSW |
10 |
81,080,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Zfr2
|
UTSW |
10 |
81,075,969 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9592:Zfr2
|
UTSW |
10 |
81,069,580 (GRCm39) |
missense |
unknown |
|
|
R9645:Zfr2
|
UTSW |
10 |
81,084,252 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Zfr2
|
UTSW |
10 |
81,078,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Zfr2
|
UTSW |
10 |
81,081,918 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGCCCATGAATCTGTAAG -3'
(R):5'- TGGTATCAGATGTCAGGGGAC -3'
Sequencing Primer
(F):5'- GGATCCTACACTTCCAGT -3'
(R):5'- ACATCAGGAACATGGGGATATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation