Incidental Mutation 'IGL00672:Zfr2'
| ID |
15023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfr2
|
| Ensembl Gene |
ENSMUSG00000034949 |
| Gene Name |
zinc finger RNA binding protein 2 |
| Synonyms |
2010013I23Rik, 9130206N08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81068989-81087957 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81077919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 249
(S249P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117798]
[ENSMUST00000144087]
|
| AlphaFold |
E9Q5M4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117798
AA Change: S249P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113913
Gene: ENSMUSG00000034949
AA Change: S249P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,657,736 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,238,986 (GRCm39) |
I744T |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,748,781 (GRCm39) |
A1202V |
probably damaging |
Het |
| C130032M10Rik |
A |
G |
9: 114,344,898 (GRCm39) |
V340A |
probably damaging |
Het |
| Csnk1g1 |
G |
T |
9: 65,915,028 (GRCm39) |
S229I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,697 (GRCm39) |
S410G |
probably benign |
Het |
| Eif2s2 |
T |
A |
2: 154,729,629 (GRCm39) |
I98L |
probably benign |
Het |
| En1 |
T |
C |
1: 120,534,667 (GRCm39) |
F319L |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,562 (GRCm39) |
Y345N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,907,309 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,637,419 (GRCm39) |
L366P |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,360,110 (GRCm39) |
L1156S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,372,468 (GRCm39) |
|
probably benign |
Het |
| Hvcn1 |
C |
A |
5: 122,376,534 (GRCm39) |
F155L |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,674,835 (GRCm39) |
S866P |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,261,751 (GRCm39) |
N642S |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,443 (GRCm39) |
I2V |
probably benign |
Het |
| Klri2 |
T |
A |
6: 129,710,034 (GRCm39) |
I189F |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,031,730 (GRCm39) |
T126S |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,364,279 (GRCm39) |
K725* |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,477,915 (GRCm39) |
|
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,361,026 (GRCm39) |
K496E |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,514 (GRCm39) |
S170P |
possibly damaging |
Het |
| Polr1b |
G |
A |
2: 128,967,392 (GRCm39) |
M928I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,709,310 (GRCm39) |
P38S |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,434 (GRCm39) |
S802G |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,619,026 (GRCm39) |
E518G |
probably benign |
Het |
| Smdt1 |
G |
A |
15: 82,230,384 (GRCm39) |
V34I |
possibly damaging |
Het |
| Ssr3 |
C |
A |
3: 65,298,831 (GRCm39) |
A59S |
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,959,999 (GRCm39) |
K59E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Taf5 |
A |
T |
19: 47,070,740 (GRCm39) |
D723V |
probably damaging |
Het |
| Tescl |
T |
C |
7: 24,033,035 (GRCm39) |
T97A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,751,646 (GRCm39) |
S443R |
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,268,541 (GRCm39) |
H205L |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,465,823 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp957 |
G |
T |
14: 79,450,838 (GRCm39) |
D320E |
unknown |
Het |
| Zmpste24 |
A |
G |
4: 120,923,057 (GRCm39) |
I386T |
probably damaging |
Het |
|
| Other mutations in Zfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation