Incidental Mutation 'R0837:Zfr2'
ID |
78004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfr2
|
Ensembl Gene |
ENSMUSG00000034949 |
Gene Name |
zinc finger RNA binding protein 2 |
Synonyms |
2010013I23Rik, 9130206N08Rik |
MMRRC Submission |
039016-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R0837 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81081242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 431
(K431E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
|
AlphaFold |
E9Q5M4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117798
AA Change: K431E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113913 Gene: ENSMUSG00000034949 AA Change: K431E
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 |
0.1555 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
96% (44/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563I02Rik |
T |
C |
14: 60,333,375 (GRCm39) |
|
probably benign |
Het |
4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
Mto1 |
A |
T |
9: 78,381,072 (GRCm39) |
I639F |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
Ptpn11 |
C |
T |
5: 121,287,174 (GRCm39) |
V406I |
probably benign |
Het |
Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
Rnf145 |
T |
C |
11: 44,415,815 (GRCm39) |
V10A |
probably benign |
Het |
Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
Zfp804a |
A |
C |
2: 82,089,506 (GRCm39) |
T1112P |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
probably null |
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 |
|
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 |
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'- TGGGCAGGACATTTCCCCAAAG -3'
(R):5'- GACATGGTAGCATTAGAGGTCACGG -3'
Sequencing Primer
(F):5'- AAGTGACCCATTTTGACTGCTG -3'
(R):5'- TAGCATTAGAGGTCACGGGATAC -3'
|
Posted On |
2013-10-16 |