Incidental Mutation 'IGL01407:Zfp712'
| ID |
79849 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp712
|
| Ensembl Gene |
ENSMUSG00000090641 |
| Gene Name |
zinc finger protein 712 |
| Synonyms |
4921504N20Rik, mszf31, mszf89 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67186660-67209234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67190230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 99
(Q99L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167565]
|
| AlphaFold |
E9PXJ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167565
AA Change: Q99L
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126665
Gene: ENSMUSG00000090641
AA Change: Q99L
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
| Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
probably benign |
Het |
|
| Other mutations in Zfp712 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation