Incidental Mutation 'R6499:Zfp712'
ID |
519642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp712
|
Ensembl Gene |
ENSMUSG00000090641 |
Gene Name |
zinc finger protein 712 |
Synonyms |
4921504N20Rik, mszf31, mszf89 |
MMRRC Submission |
044631-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R6499 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67186660-67209234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67200400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 28
(D28E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167565]
|
AlphaFold |
E9PXJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167565
AA Change: D28E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126665 Gene: ENSMUSG00000090641 AA Change: D28E
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
7.38e-36 |
SMART |
ZnF_C2H2
|
109 |
131 |
1.28e-3 |
SMART |
ZnF_C2H2
|
137 |
159 |
4.17e-3 |
SMART |
ZnF_C2H2
|
165 |
186 |
1.73e0 |
SMART |
ZnF_C2H2
|
192 |
214 |
3.39e-3 |
SMART |
ZnF_C2H2
|
220 |
242 |
1.58e-3 |
SMART |
ZnF_C2H2
|
248 |
270 |
8.34e-3 |
SMART |
ZnF_C2H2
|
276 |
298 |
4.17e-3 |
SMART |
ZnF_C2H2
|
304 |
326 |
4.87e-4 |
SMART |
ZnF_C2H2
|
332 |
354 |
1.04e-3 |
SMART |
ZnF_C2H2
|
360 |
382 |
5.5e-3 |
SMART |
ZnF_C2H2
|
388 |
410 |
1.89e-1 |
SMART |
ZnF_C2H2
|
416 |
438 |
7.15e-2 |
SMART |
ZnF_C2H2
|
444 |
466 |
3.58e-2 |
SMART |
ZnF_C2H2
|
472 |
494 |
5.99e-4 |
SMART |
ZnF_C2H2
|
500 |
522 |
2.12e-4 |
SMART |
ZnF_C2H2
|
528 |
550 |
3.83e-2 |
SMART |
ZnF_C2H2
|
556 |
578 |
2.95e-3 |
SMART |
ZnF_C2H2
|
584 |
606 |
6.32e-3 |
SMART |
ZnF_C2H2
|
612 |
634 |
3.89e-3 |
SMART |
ZnF_C2H2
|
640 |
662 |
3.49e-5 |
SMART |
ZnF_C2H2
|
668 |
690 |
1.84e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223867
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,439,847 (GRCm39) |
V231E |
possibly damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
|
Other mutations in Zfp712 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Zfp712
|
APN |
13 |
67,190,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02148:Zfp712
|
APN |
13 |
67,190,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Zfp712
|
UTSW |
13 |
67,189,256 (GRCm39) |
missense |
probably benign |
0.00 |
R0332:Zfp712
|
UTSW |
13 |
67,188,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Zfp712
|
UTSW |
13 |
67,200,400 (GRCm39) |
missense |
probably benign |
0.00 |
R1838:Zfp712
|
UTSW |
13 |
67,190,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Zfp712
|
UTSW |
13 |
67,190,114 (GRCm39) |
nonsense |
probably null |
|
R2147:Zfp712
|
UTSW |
13 |
67,189,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2203:Zfp712
|
UTSW |
13 |
67,190,048 (GRCm39) |
missense |
probably benign |
0.32 |
R3421:Zfp712
|
UTSW |
13 |
67,200,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R3943:Zfp712
|
UTSW |
13 |
67,189,396 (GRCm39) |
missense |
probably benign |
0.06 |
R4722:Zfp712
|
UTSW |
13 |
67,190,177 (GRCm39) |
missense |
probably benign |
0.41 |
R4952:Zfp712
|
UTSW |
13 |
67,188,905 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4964:Zfp712
|
UTSW |
13 |
67,188,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Zfp712
|
UTSW |
13 |
67,188,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4967:Zfp712
|
UTSW |
13 |
67,188,773 (GRCm39) |
nonsense |
probably null |
|
R5114:Zfp712
|
UTSW |
13 |
67,189,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R5361:Zfp712
|
UTSW |
13 |
67,189,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5922:Zfp712
|
UTSW |
13 |
67,189,668 (GRCm39) |
missense |
probably benign |
0.01 |
R5950:Zfp712
|
UTSW |
13 |
67,192,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R6004:Zfp712
|
UTSW |
13 |
67,189,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R6236:Zfp712
|
UTSW |
13 |
67,188,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Zfp712
|
UTSW |
13 |
67,189,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Zfp712
|
UTSW |
13 |
67,189,568 (GRCm39) |
missense |
probably benign |
0.01 |
R6932:Zfp712
|
UTSW |
13 |
67,188,891 (GRCm39) |
nonsense |
probably null |
|
R7410:Zfp712
|
UTSW |
13 |
67,189,400 (GRCm39) |
missense |
probably benign |
0.00 |
R7831:Zfp712
|
UTSW |
13 |
67,200,483 (GRCm39) |
splice site |
probably null |
|
R7923:Zfp712
|
UTSW |
13 |
67,190,249 (GRCm39) |
missense |
probably benign |
0.01 |
R8144:Zfp712
|
UTSW |
13 |
67,189,172 (GRCm39) |
missense |
probably benign |
|
R8298:Zfp712
|
UTSW |
13 |
67,188,976 (GRCm39) |
missense |
probably benign |
0.06 |
R9115:Zfp712
|
UTSW |
13 |
67,189,241 (GRCm39) |
missense |
probably damaging |
0.96 |
R9138:Zfp712
|
UTSW |
13 |
67,189,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R9187:Zfp712
|
UTSW |
13 |
67,188,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9256:Zfp712
|
UTSW |
13 |
67,188,791 (GRCm39) |
missense |
probably benign |
0.28 |
R9651:Zfp712
|
UTSW |
13 |
67,188,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATGGAAGGCTTCTCCATTTG -3'
(R):5'- GTCTCGTCCCTTGAAGATGGATAG -3'
Sequencing Primer
(F):5'- GGAAGGCTTCTCCATTTGTAAGAATG -3'
(R):5'- GTGTAAAAGAATCTCATTCACTGCAC -3'
|
Posted On |
2018-06-06 |