Incidental Mutation 'IGL02471:Zfp12'
| ID |
294746 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp12
|
| Ensembl Gene |
ENSMUSG00000029587 |
| Gene Name |
zinc finger protein 12 |
| Synonyms |
Zfp-12, Krox-7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143220918-143234589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143230551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 293
(G293R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000161448]
[ENSMUST00000162861]
|
| AlphaFold |
Q7TSI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032591
AA Change: G325R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: G325R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
1.98e-36 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
263 |
285 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
599 |
621 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
627 |
649 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
655 |
677 |
4.54e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075916
|
| SMART Domains |
Protein: ENSMUSP00000137971
Gene: ENSMUSG00000029587
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
67 |
6.65e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077485
AA Change: G293R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: G293R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
8.91e-21 |
SMART |
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
Pfam:zf-C2H2_6
|
183 |
200 |
8.8e-1 |
PFAM |
|
ZnF_C2H2
|
231 |
253 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
259 |
281 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
287 |
309 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
315 |
337 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
595 |
617 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
623 |
645 |
4.54e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161448
|
| SMART Domains |
Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
|
KRAB
|
155 |
215 |
4.31e-37 |
SMART |
|
low complexity region
|
239 |
262 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
341 |
363 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
481 |
501 |
2.17e1 |
SMART |
|
low complexity region
|
524 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
707 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
708 |
730 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
736 |
758 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
764 |
786 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
792 |
814 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
820 |
842 |
2.82e0 |
SMART |
|
ZnF_C2H2
|
848 |
870 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
876 |
898 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
904 |
926 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
932 |
954 |
2.09e-3 |
SMART |
|
low complexity region
|
964 |
990 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162861
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
| Ermap |
G |
A |
4: 119,037,160 (GRCm39) |
H353Y |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
| Manba |
G |
A |
3: 135,212,769 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,503,955 (GRCm39) |
F319I |
probably damaging |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,279,721 (GRCm39) |
E107G |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,207 (GRCm39) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Zfp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02870:Zfp12
|
APN |
5 |
143,231,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02975:Zfp12
|
APN |
5 |
143,229,814 (GRCm39) |
unclassified |
probably benign |
|
|
R0362:Zfp12
|
UTSW |
5 |
143,230,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0723:Zfp12
|
UTSW |
5 |
143,230,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1104:Zfp12
|
UTSW |
5 |
143,231,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Zfp12
|
UTSW |
5 |
143,230,535 (GRCm39) |
nonsense |
probably null |
|
|
R1403:Zfp12
|
UTSW |
5 |
143,230,535 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Zfp12
|
UTSW |
5 |
143,230,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Zfp12
|
UTSW |
5 |
143,231,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Zfp12
|
UTSW |
5 |
143,231,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Zfp12
|
UTSW |
5 |
143,231,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:Zfp12
|
UTSW |
5 |
143,226,077 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4772:Zfp12
|
UTSW |
5 |
143,225,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Zfp12
|
UTSW |
5 |
143,231,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5255:Zfp12
|
UTSW |
5 |
143,226,134 (GRCm39) |
missense |
probably null |
0.08 |
|
R5496:Zfp12
|
UTSW |
5 |
143,230,550 (GRCm39) |
nonsense |
probably null |
|
|
R5542:Zfp12
|
UTSW |
5 |
143,230,240 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5637:Zfp12
|
UTSW |
5 |
143,231,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Zfp12
|
UTSW |
5 |
143,230,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5907:Zfp12
|
UTSW |
5 |
143,225,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Zfp12
|
UTSW |
5 |
143,230,219 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7166:Zfp12
|
UTSW |
5 |
143,231,257 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7188:Zfp12
|
UTSW |
5 |
143,225,749 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7285:Zfp12
|
UTSW |
5 |
143,230,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Zfp12
|
UTSW |
5 |
143,226,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Zfp12
|
UTSW |
5 |
143,231,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8085:Zfp12
|
UTSW |
5 |
143,230,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Zfp12
|
UTSW |
5 |
143,230,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Zfp12
|
UTSW |
5 |
143,230,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Zfp12
|
UTSW |
5 |
143,231,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Zfp12
|
UTSW |
5 |
143,230,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Zfp12
|
UTSW |
5 |
143,230,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation