Incidental Mutation 'R5255:Zfp12'
| ID |
399469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp12
|
| Ensembl Gene |
ENSMUSG00000029587 |
| Gene Name |
zinc finger protein 12 |
| Synonyms |
Zfp-12, Krox-7 |
| MMRRC Submission |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5255 (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 T
at 143226134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 68
(I68L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000162861]
|
| AlphaFold |
Q7TSI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032591
AA Change: I68L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: I68L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
| 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 null
Transcript: ENSMUST00000162861
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
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 |
|
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'- CTGACTCCCAGAAGGTCTTGAC -3'
(R):5'- CAGCTAGGAACCTTTGATTGTGG -3'
Sequencing Primer
(F):5'- AGGTCTTGACCTTTCTGTGAAAC -3'
(R):5'- CTAGGAACCTTTGATTGTGGGTAGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation