Incidental Mutation 'R3704:Zfr2'
| ID |
258662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr2
|
| Ensembl Gene |
ENSMUSG00000034949 |
| Gene Name |
zinc finger RNA binding protein 2 |
| Synonyms |
2010013I23Rik, 9130206N08Rik |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81081913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 493
(V493G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
|
| AlphaFold |
E9Q5M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117798
AA Change: V493G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: V493G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148029
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
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 |
|
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 |
|
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'- ACCTCTGATGCCCCATGATC -3'
(R):5'- ACAGACATGCTATGCTGGAC -3'
Sequencing Primer
(F):5'- GATGCCCCATGATCCCTGAC -3'
(R):5'- ATGCTATGCTGGACCCACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation