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) question?
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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