Incidental Mutation 'IGL02870:Zfp12'
| ID |
362555 |
| 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: 0.087)
|
| Stock # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143220918-143234589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143231086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 471
(T471N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032591]
[ENSMUST00000075916]
[ENSMUST00000077485]
[ENSMUST00000161448]
|
| AlphaFold |
Q7TSI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032591
AA Change: T503N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000032591
Gene: ENSMUSG00000029587
AA Change: T503N
| 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: T471N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076693
Gene: ENSMUSG00000029587
AA Change: T471N
| 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 |
noncoding transcript
Transcript: ENSMUST00000197349
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,584,007 (GRCm39) |
Y500H |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation