Incidental Mutation 'R1404:Zfp202'
| ID |
160497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp202
|
| Ensembl Gene |
ENSMUSG00000025602 |
| Gene Name |
zinc finger protein 202 |
| Synonyms |
C130037E22Rik |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40103612-40124900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40122792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 518
(T518I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026693]
[ENSMUST00000168691]
[ENSMUST00000168832]
|
| AlphaFold |
Q8C879 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026693
AA Change: T518I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026693
Gene: ENSMUSG00000025602
AA Change: T518I
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
1.19e-75 |
SMART |
|
KRAB
|
237 |
297 |
1.7e-17 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
613 |
635 |
3.39e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168691
|
| SMART Domains |
Protein: ENSMUSP00000130163
Gene: ENSMUSG00000025602
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
132 |
1.03e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168832
|
| SMART Domains |
Protein: ENSMUSP00000132131
Gene: ENSMUSG00000025602
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
42 |
154 |
1.19e-75 |
SMART |
|
KRAB
|
237 |
277 |
5.32e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1314 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.4%
- 10x: 81.1%
- 20x: 48.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
|
| Other mutations in Zfp202 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Zfp202
|
APN |
9 |
40,122,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01862:Zfp202
|
APN |
9 |
40,123,124 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03069:Zfp202
|
APN |
9 |
40,122,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Zfp202
|
UTSW |
9 |
40,123,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Zfp202
|
UTSW |
9 |
40,120,212 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Zfp202
|
UTSW |
9 |
40,119,778 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1132:Zfp202
|
UTSW |
9 |
40,122,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1404:Zfp202
|
UTSW |
9 |
40,122,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Zfp202
|
UTSW |
9 |
40,121,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1928:Zfp202
|
UTSW |
9 |
40,121,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2929:Zfp202
|
UTSW |
9 |
40,122,984 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3153:Zfp202
|
UTSW |
9 |
40,119,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3948:Zfp202
|
UTSW |
9 |
40,119,721 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4190:Zfp202
|
UTSW |
9 |
40,122,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4273:Zfp202
|
UTSW |
9 |
40,118,790 (GRCm39) |
nonsense |
probably null |
|
|
R6181:Zfp202
|
UTSW |
9 |
40,118,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Zfp202
|
UTSW |
9 |
40,118,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Zfp202
|
UTSW |
9 |
40,123,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Zfp202
|
UTSW |
9 |
40,121,531 (GRCm39) |
splice site |
probably null |
|
|
R7382:Zfp202
|
UTSW |
9 |
40,122,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Zfp202
|
UTSW |
9 |
40,118,640 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7542:Zfp202
|
UTSW |
9 |
40,122,443 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7689:Zfp202
|
UTSW |
9 |
40,121,829 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7832:Zfp202
|
UTSW |
9 |
40,121,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8084:Zfp202
|
UTSW |
9 |
40,122,538 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8349:Zfp202
|
UTSW |
9 |
40,118,976 (GRCm39) |
nonsense |
probably null |
|
|
R8449:Zfp202
|
UTSW |
9 |
40,118,976 (GRCm39) |
nonsense |
probably null |
|
|
R8879:Zfp202
|
UTSW |
9 |
40,123,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Zfp202
|
UTSW |
9 |
40,120,237 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9411:Zfp202
|
UTSW |
9 |
40,118,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Zfp202
|
UTSW |
9 |
40,120,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0012:Zfp202
|
UTSW |
9 |
40,122,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCTCCAAACCGGAAGACTGTG -3'
(R):5'- TGTCTGACAAGGTGATCCCTCCTG -3'
Sequencing Primer
(F):5'- AAGACTGTGGATGGCCCTC -3'
(R):5'- AGTTCCTCACTGAAGCATGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation