Incidental Mutation 'R5742:Zfp12'
| ID |
445606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp12
|
| Ensembl Gene |
ENSMUSG00000029587 |
| Gene Name |
zinc finger protein 12 |
| Synonyms |
Zfp-12, Krox-7 |
| MMRRC Submission |
043352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R5742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143220918-143234589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143230945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 424
(E424G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000161448]
|
| AlphaFold |
Q7TSI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032591
AA Change: E456G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: E456G
| 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: E424G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: E424G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
| Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
| Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
| Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
| Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
| Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
| Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
| Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
| Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
| Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
| Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
| Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
| Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
| Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
| Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
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 |
|
|
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 |
|
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'- TCTCTCAGAAGTCAGCACTCAATG -3'
(R):5'- TACGACATCCGAGAGAAGGC -3'
Sequencing Primer
(F):5'- AGAAGATCCACACGGGCGTC -3'
(R):5'- ATCTGGGAGAAGCATTTCCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation