Incidental Mutation 'R1403:Zfp12'
ID |
188603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp12
|
Ensembl Gene |
ENSMUSG00000029587 |
Gene Name |
zinc finger protein 12 |
Synonyms |
Zfp-12, Krox-7 |
MMRRC Submission |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R1403 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143220918-143234589 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 143230535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 287
(Y287*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076693
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000161448]
[ENSMUST00000162861]
|
AlphaFold |
Q7TSI0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032591
AA Change: Y319*
|
SMART Domains |
Protein: ENSMUSP00000032591 Gene: ENSMUSG00000029587 AA Change: Y319*
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 null
Transcript: ENSMUST00000077485
AA Change: Y287*
|
SMART Domains |
Protein: ENSMUSP00000076693 Gene: ENSMUSG00000029587 AA Change: Y287*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
94% (51/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Akt3 |
C |
T |
1: 176,958,676 (GRCm39) |
|
probably benign |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
Het |
|
Other mutations in Zfp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02471:Zfp12
|
APN |
5 |
143,230,551 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATCACCTGGAAGAGGAGCCCTG -3'
(R):5'- CTGACTTCTGAGAGAACGTCTTGCC -3'
Sequencing Primer
(F):5'- aaatgaagccctacgagtgcc -3'
(R):5'- agaacgtcttgccacagtc -3'
|
Posted On |
2014-05-09 |