Incidental Mutation 'R4301:Zfr2'
ID |
322420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfr2
|
Ensembl Gene |
ENSMUSG00000034949 |
Gene Name |
zinc finger RNA binding protein 2 |
Synonyms |
2010013I23Rik, 9130206N08Rik |
MMRRC Submission |
041088-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4301 (G1)
|
Quality Score |
127 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 81078018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
[ENSMUST00000144087]
|
AlphaFold |
E9Q5M4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117798
|
SMART Domains |
Protein: ENSMUSP00000113913 Gene: ENSMUSG00000034949
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: ENSMUST00000127526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144087
|
SMART Domains |
Protein: ENSMUSP00000115001 Gene: ENSMUSG00000034949
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
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 |
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'- TATCGGGATCACCTGGAAGG -3'
(R):5'- CAAGCCTGTGAGCAGATGTG -3'
Sequencing Primer
(F):5'- TCACCTGGAAGGGCAGAAGC -3'
(R):5'- CACACTCCTGCCTGCAG -3'
|
Posted On |
2015-06-20 |