Incidental Mutation 'R7902:Zfp12'
| ID |
610035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp12
|
| Ensembl Gene |
ENSMUSG00000029587 |
| Gene Name |
zinc finger protein 12 |
| Synonyms |
Zfp-12, Krox-7 |
| MMRRC Submission |
045954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143220918-143234589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143231535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 653
(K653E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000161448]
|
| AlphaFold |
Q7TSI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032591
AA Change: K653E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: K653E
| 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: K621E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: K621E
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1926 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (34/35) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamts14 |
T |
C |
10: 61,041,176 (GRCm39) |
S842G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,562,654 (GRCm39) |
I1108T |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,548,863 (GRCm39) |
M2161L |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,364,832 (GRCm39) |
I1647T |
probably benign |
Het |
| Defb26 |
A |
T |
2: 152,350,156 (GRCm39) |
C41* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,439,964 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
C |
T |
6: 108,831,338 (GRCm39) |
R600W |
possibly damaging |
Het |
| F13a1 |
C |
A |
13: 37,172,913 (GRCm39) |
G156W |
probably damaging |
Het |
| Foxk2 |
A |
G |
11: 121,190,553 (GRCm39) |
T565A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,168 (GRCm39) |
I1496F |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,690,197 (GRCm39) |
|
probably null |
Het |
| Gapdhs |
T |
C |
7: 30,436,146 (GRCm39) |
Y148C |
probably damaging |
Het |
| H1f3 |
T |
C |
13: 23,739,505 (GRCm39) |
I81T |
probably damaging |
Het |
| Hddc2 |
A |
T |
10: 31,192,289 (GRCm39) |
R64S |
probably damaging |
Het |
| Hddc2 |
T |
A |
10: 31,196,338 (GRCm39) |
|
probably null |
Het |
| Klk10 |
T |
A |
7: 43,432,942 (GRCm39) |
S113T |
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,159,843 (GRCm39) |
S52P |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,331,029 (GRCm39) |
I2213L |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,466,615 (GRCm39) |
T763A |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,149,482 (GRCm39) |
I363N |
possibly damaging |
Het |
| Oat |
C |
T |
7: 132,161,393 (GRCm39) |
V381I |
probably benign |
Het |
| Or52n2c |
A |
G |
7: 104,574,557 (GRCm39) |
L138P |
probably damaging |
Het |
| Plpp2 |
A |
T |
10: 79,363,378 (GRCm39) |
I207N |
possibly damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,679 (GRCm39) |
E522G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,441,628 (GRCm39) |
V63A |
probably benign |
Het |
| Sgf29 |
C |
T |
7: 126,271,350 (GRCm39) |
R209C |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,086,048 (GRCm39) |
A1220V |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,902 (GRCm39) |
E1055G |
|
Het |
| Vmn1r158 |
A |
T |
7: 22,489,433 (GRCm39) |
C259S |
possibly damaging |
Het |
| Vmn2r120 |
T |
G |
17: 57,816,244 (GRCm39) |
I704L |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,329,731 (GRCm39) |
S1188G |
probably benign |
Het |
| Zfp933 |
T |
A |
4: 147,911,058 (GRCm39) |
R179S |
probably damaging |
Het |
| Zfp937 |
A |
T |
2: 150,080,681 (GRCm39) |
H237L |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
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 |
|
|
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 |
|
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'- AGGCTGTCGTACCTCACC -3'
(R):5'- GCAGACAGGGGTTTCTAGC -3'
Sequencing Primer
(F):5'- AGCCCTATGAATGCTACATCTGTGG -3'
(R):5'- ACAGGGGTTTCTAGCTTACTGAGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation