Incidental Mutation 'R6435:Zfp612'
| ID |
518748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp612
|
| Ensembl Gene |
ENSMUSG00000044676 |
| Gene Name |
zinc finger protein 612 |
| Synonyms |
B230354B21Rik |
| MMRRC Submission |
044573-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6435 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110806378-110819373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110815952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 347
(I347M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058804]
[ENSMUST00000165700]
[ENSMUST00000212754]
|
| AlphaFold |
A0A1D5RMC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058804
AA Change: I347M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: I347M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
11 |
71 |
2e-32 |
SMART |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
225 |
247 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
617 |
639 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
645 |
667 |
1.03e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165700
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212754
AA Change: I386M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
T |
2: 31,691,561 (GRCm39) |
T1027S |
possibly damaging |
Het |
| Ablim1 |
T |
C |
19: 57,049,787 (GRCm39) |
I159V |
possibly damaging |
Het |
| Adcy1 |
A |
G |
11: 7,111,367 (GRCm39) |
N886S |
possibly damaging |
Het |
| Baz1b |
G |
A |
5: 135,266,799 (GRCm39) |
D1203N |
probably damaging |
Het |
| Chmp2a |
A |
T |
7: 12,766,701 (GRCm39) |
Y72* |
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,546,957 (GRCm39) |
I755N |
unknown |
Het |
| Defa24 |
T |
A |
8: 22,224,690 (GRCm39) |
F46L |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,749,081 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
A |
G |
11: 49,726,478 (GRCm39) |
S628G |
probably benign |
Het |
| Hsdl2 |
C |
A |
4: 59,610,668 (GRCm39) |
Q222K |
unknown |
Het |
| Ighv1-9 |
T |
A |
12: 114,547,206 (GRCm39) |
I111F |
probably benign |
Het |
| Itch |
G |
A |
2: 155,051,049 (GRCm39) |
D579N |
probably benign |
Het |
| Jdp2 |
A |
T |
12: 85,655,132 (GRCm39) |
K65M |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,815,556 (GRCm39) |
E222V |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,652,871 (GRCm39) |
V42A |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,034,398 (GRCm39) |
E426V |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,834,844 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
G |
T |
1: 52,748,603 (GRCm39) |
Y87* |
probably null |
Het |
| Mybpc2 |
A |
G |
7: 44,155,481 (GRCm39) |
V924A |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,431,249 (GRCm39) |
M1196K |
probably benign |
Het |
| Nscme3l |
T |
C |
19: 5,553,446 (GRCm39) |
I112V |
probably benign |
Het |
| Or52n5 |
A |
G |
7: 104,588,041 (GRCm39) |
M103V |
probably damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,125,280 (GRCm39) |
P297S |
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
| Rgs21 |
A |
G |
1: 144,395,565 (GRCm39) |
F108L |
probably damaging |
Het |
| Runx1 |
A |
T |
16: 92,441,183 (GRCm39) |
S209T |
possibly damaging |
Het |
| Sdccag8 |
G |
T |
1: 176,642,428 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
| Tsc1 |
G |
A |
2: 28,566,464 (GRCm39) |
V627M |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
|
| Other mutations in Zfp612 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
H8562:Zfp612
|
UTSW |
8 |
110,816,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Zfp612
|
UTSW |
8 |
110,815,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2994:Zfp612
|
UTSW |
8 |
110,816,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4281:Zfp612
|
UTSW |
8 |
110,816,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Zfp612
|
UTSW |
8 |
110,815,683 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4492:Zfp612
|
UTSW |
8 |
110,815,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4748:Zfp612
|
UTSW |
8 |
110,815,304 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4890:Zfp612
|
UTSW |
8 |
110,816,576 (GRCm39) |
nonsense |
probably null |
|
|
R5200:Zfp612
|
UTSW |
8 |
110,816,532 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Zfp612
|
UTSW |
8 |
110,816,227 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5864:Zfp612
|
UTSW |
8 |
110,816,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Zfp612
|
UTSW |
8 |
110,816,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Zfp612
|
UTSW |
8 |
110,816,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7082:Zfp612
|
UTSW |
8 |
110,816,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zfp612
|
UTSW |
8 |
110,815,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8837:Zfp612
|
UTSW |
8 |
110,815,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Zfp612
|
UTSW |
8 |
110,815,372 (GRCm39) |
missense |
probably benign |
|
|
R9394:Zfp612
|
UTSW |
8 |
110,810,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Zfp612
|
UTSW |
8 |
110,816,174 (GRCm39) |
nonsense |
probably null |
|
|
RF008:Zfp612
|
UTSW |
8 |
110,816,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp612
|
UTSW |
8 |
110,815,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGTAAGGTATGCGGCA -3'
(R):5'- CACTGCACTTATATGGCTTCTCC -3'
Sequencing Primer
(F):5'- CAAGGCCTTCAGTGTTAATGGAAGTC -3'
(R):5'- ATTCTCAGATGCTGCCGAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation