Incidental Mutation 'R5781:Zfr2'
| ID |
447744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr2
|
| Ensembl Gene |
ENSMUSG00000034949 |
| Gene Name |
zinc finger RNA binding protein 2 |
| Synonyms |
2010013I23Rik, 9130206N08Rik |
| MMRRC Submission |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5781 (G1)
|
| Quality Score |
81 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81079547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 362
(V362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
|
| AlphaFold |
E9Q5M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117798
AA Change: V362E
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V362E
| 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 |
noncoding transcript
Transcript: ENSMUST00000128182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132174
|
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,584 (GRCm39) |
I56T |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
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 |
|
|
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 |
|
R8389:Zfr2
|
UTSW |
10 |
81,081,323 (GRCm39) |
missense |
probably benign |
|
|
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'- GATATCACAGCCTGCCCTTC -3'
(R):5'- ACATGAGGATGGGCTACTGTG -3'
Sequencing Primer
(F):5'- GCAGGATACCATGGTAGTTTCCAC -3'
(R):5'- TGGCAGCTCCATTCACAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation