Incidental Mutation 'R3421:Zfp712'
| ID |
267058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp712
|
| Ensembl Gene |
ENSMUSG00000090641 |
| Gene Name |
zinc finger protein 712 |
| Synonyms |
4921504N20Rik, mszf31, mszf89 |
| MMRRC Submission |
040639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R3421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67186660-67209234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67200456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 10
(V10M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167565]
|
| AlphaFold |
E9PXJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167565
AA Change: V10M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126665
Gene: ENSMUSG00000090641
AA Change: V10M
| 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
|
| Meta Mutation Damage Score |
0.8810 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,350,697 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Amn1 |
A |
T |
6: 149,070,950 (GRCm39) |
L196* |
probably null |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,495 (GRCm39) |
Y356* |
probably null |
Het |
| Ccdc40 |
C |
T |
11: 119,125,605 (GRCm39) |
P348L |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,673,075 (GRCm39) |
C9Y |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,038 (GRCm39) |
D192G |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Dmgdh |
T |
C |
13: 93,847,869 (GRCm39) |
V522A |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,041,332 (GRCm39) |
Y246N |
probably damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,417,354 (GRCm39) |
M518L |
probably benign |
Het |
| Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,904,655 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,113,230 (GRCm39) |
E453V |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,013,337 (GRCm39) |
Y80C |
probably damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c123 |
C |
G |
2: 89,126,897 (GRCm39) |
S239T |
probably benign |
Het |
| Or4g7 |
A |
G |
2: 111,309,297 (GRCm39) |
H56R |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,459,774 (GRCm39) |
V124A |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc25a17 |
C |
T |
15: 81,244,901 (GRCm39) |
V11I |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Telo2 |
C |
T |
17: 25,329,726 (GRCm39) |
R262Q |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,803,366 (GRCm39) |
*490R |
probably null |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
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 |
|
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 |
|
R6499:Zfp712
|
UTSW |
13 |
67,200,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GAAGGCTTCTCCATTTGTAAGAATG -3'
(R):5'- AGTCTCGTCCCTTGAAGATGG -3'
Sequencing Primer
(F):5'- GGAAGCTGTGATGAGAATGTAAAG -3'
(R):5'- TCCCTTGAAGATGGATAGTATATACG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation