Incidental Mutation 'R3705:Zfr2'
| ID |
258714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfr2
|
| Ensembl Gene |
ENSMUSG00000034949 |
| Gene Name |
zinc finger RNA binding protein 2 |
| Synonyms |
9130206N08Rik, 2010013I23Rik |
| MMRRC Submission |
040698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3705 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81233155-81252123 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81246079 bp (GRCm38)
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
T |
A |
3: 36,987,581 (GRCm38) |
C2703S |
probably damaging |
Het |
| 9930111J21Rik1 |
T |
C |
11: 48,947,976 (GRCm38) |
T595A |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,285,705 (GRCm38) |
D1538G |
probably damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 136,241,241 (GRCm38) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,617,152 (GRCm38) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 108,760,415 (GRCm38) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,007,371 (GRCm38) |
E349G |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,786,075 (GRCm38) |
A261S |
probably benign |
Het |
| Csf3r |
A |
G |
4: 126,032,285 (GRCm38) |
D221G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,350,943 (GRCm38) |
H1826L |
probably damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,080,229 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,640,586 (GRCm38) |
V2566I |
possibly damaging |
Het |
| Ehd1 |
A |
G |
19: 6,298,300 (GRCm38) |
D436G |
|
Het |
| Fam133b |
T |
C |
5: 3,561,034 (GRCm38) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,395,098 (GRCm38) |
R304G |
probably benign |
Het |
| Gm13084 |
T |
C |
4: 143,811,775 (GRCm38) |
T209A |
probably benign |
Het |
| Gpnmb |
T |
A |
6: 49,051,865 (GRCm38) |
I439N |
possibly damaging |
Het |
| Grm1 |
G |
A |
10: 10,782,729 (GRCm38) |
T339I |
possibly damaging |
Het |
| Gtpbp3 |
T |
G |
8: 71,492,135 (GRCm38) |
S345A |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,934,694 (GRCm38) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 106,892,839 (GRCm38) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,261,437 (GRCm38) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,968,409 (GRCm38) |
N1473S |
probably benign |
Het |
| Jak3 |
A |
G |
8: 71,681,522 (GRCm38) |
K423E |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,104,028 (GRCm38) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,813,475 (GRCm38) |
S584P |
probably damaging |
Het |
| Nipal4 |
T |
C |
11: 46,161,851 (GRCm38) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 31,176,745 (GRCm38) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 56,040,474 (GRCm38) |
Y137C |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 88,653,320 (GRCm38) |
S150P |
probably benign |
Het |
| Olfr153 |
A |
G |
2: 87,532,068 (GRCm38) |
I12V |
probably benign |
Het |
| Pdgfc |
T |
C |
3: 81,204,444 (GRCm38) |
|
probably null |
Het |
| Phldb1 |
G |
T |
9: 44,694,394 (GRCm38) |
H1323N |
probably damaging |
Het |
| Ppp1r14c |
A |
G |
10: 3,423,524 (GRCm38) |
I112V |
possibly damaging |
Het |
| Rcc1l |
A |
T |
5: 134,154,191 (GRCm38) |
V414E |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,148,954 (GRCm38) |
M327V |
probably benign |
Het |
| Sf3b4 |
T |
C |
3: 96,176,628 (GRCm38) |
|
probably benign |
Het |
| Spag6 |
A |
G |
2: 18,710,557 (GRCm38) |
Y49C |
probably damaging |
Het |
| Syngap1 |
T |
C |
17: 26,960,020 (GRCm38) |
S495P |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,216,387 (GRCm38) |
S343P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,068,326 (GRCm38) |
D1132V |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,963,114 (GRCm38) |
D446N |
possibly damaging |
Het |
| Top1 |
G |
A |
2: 160,702,824 (GRCm38) |
|
probably null |
Het |
| Tox3 |
G |
T |
8: 90,248,905 (GRCm38) |
T366K |
possibly damaging |
Het |
| Tph2 |
G |
A |
10: 115,119,893 (GRCm38) |
Q332* |
probably null |
Het |
|
| Other mutations in Zfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Zfr2
|
APN |
10 |
81,242,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01622:Zfr2
|
APN |
10 |
81,251,359 (GRCm38) |
missense |
probably benign |
|
|
IGL01623:Zfr2
|
APN |
10 |
81,251,359 (GRCm38) |
missense |
probably benign |
|
|
IGL02719:Zfr2
|
APN |
10 |
81,244,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03036:Zfr2
|
APN |
10 |
81,242,151 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0302:Zfr2
|
UTSW |
10 |
81,251,336 (GRCm38) |
unclassified |
probably benign |
|
|
R0837:Zfr2
|
UTSW |
10 |
81,245,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1557:Zfr2
|
UTSW |
10 |
81,247,391 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1714:Zfr2
|
UTSW |
10 |
81,244,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:Zfr2
|
UTSW |
10 |
81,242,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1991:Zfr2
|
UTSW |
10 |
81,242,852 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2134:Zfr2
|
UTSW |
10 |
81,242,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2148:Zfr2
|
UTSW |
10 |
81,242,116 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2150:Zfr2
|
UTSW |
10 |
81,242,116 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3703:Zfr2
|
UTSW |
10 |
81,246,079 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3704:Zfr2
|
UTSW |
10 |
81,246,079 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3715:Zfr2
|
UTSW |
10 |
81,246,079 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4301:Zfr2
|
UTSW |
10 |
81,242,184 (GRCm38) |
unclassified |
probably benign |
|
|
R4654:Zfr2
|
UTSW |
10 |
81,251,249 (GRCm38) |
splice site |
probably null |
|
|
R4811:Zfr2
|
UTSW |
10 |
81,243,713 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5290:Zfr2
|
UTSW |
10 |
81,246,710 (GRCm38) |
frame shift |
probably null |
|
|
R5781:Zfr2
|
UTSW |
10 |
81,243,713 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7114:Zfr2
|
UTSW |
10 |
81,244,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8192:Zfr2
|
UTSW |
10 |
81,242,815 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8359:Zfr2
|
UTSW |
10 |
81,242,819 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8389:Zfr2
|
UTSW |
10 |
81,245,489 (GRCm38) |
missense |
probably benign |
|
|
R8827:Zfr2
|
UTSW |
10 |
81,242,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8953:Zfr2
|
UTSW |
10 |
81,248,437 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9086:Zfr2
|
UTSW |
10 |
81,240,195 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9189:Zfr2
|
UTSW |
10 |
81,244,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9487:Zfr2
|
UTSW |
10 |
81,240,135 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9592:Zfr2
|
UTSW |
10 |
81,233,746 (GRCm38) |
missense |
unknown |
|
|
R9645:Zfr2
|
UTSW |
10 |
81,248,418 (GRCm38) |
nonsense |
probably null |
|
|
X0063:Zfr2
|
UTSW |
10 |
81,242,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Zfr2
|
UTSW |
10 |
81,246,084 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCTGATGCCCCATGATC -3'
(R):5'- ATGCTATGCTGGACCCACAG -3'
Sequencing Primer
(F):5'- GATGCCCCATGATCCCTGAC -3'
(R):5'- ACAGCACTGGGTAGTCTCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation