Incidental Mutation 'R1530:Zc3h14'
ID 166575
Institutional Source Beutler Lab
Gene Symbol Zc3h14
Ensembl Gene ENSMUSG00000021012
Gene Name zinc finger CCCH type containing 14
Synonyms 2700069A02Rik, 1010001P15Rik, 1700016A15Rik
MMRRC Submission 039569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1530 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98713223-98754012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98751262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 159 (C159W)
Ref Sequence ENSEMBL: ENSMUSP00000152746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021399] [ENSMUST00000057000] [ENSMUST00000065716] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532] [ENSMUST00000223282]
AlphaFold Q8BJ05
Predicted Effect probably damaging
Transcript: ENSMUST00000021399
AA Change: C226W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021399
Gene: ENSMUSG00000021012
AA Change: C226W

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
coiled coil region 69 91 N/A INTRINSIC
ZnF_C3H1 170 193 7.16e-1 SMART
ZnF_C3H1 195 214 5.27e1 SMART
ZnF_C3H1 250 272 5.55e0 SMART
Pfam:zf-CCCH_2 273 290 1.3e-3 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000057000
AA Change: C496W

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: C496W

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 440 463 7.16e-1 SMART
ZnF_C3H1 465 484 5.27e1 SMART
ZnF_C3H1 520 542 5.55e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065716
SMART Domains Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166

DomainStartEndE-ValueType
Pfam:HELP 1 49 3.3e-21 PFAM
WD40 50 91 6.42e-1 SMART
WD40 94 136 1.08e-4 SMART
WD40 139 178 1.27e-1 SMART
WD40 184 224 2.75e1 SMART
WD40 225 263 2.65e-4 SMART
Blast:WD40 265 312 2e-22 BLAST
WD40 313 353 4.69e-5 SMART
WD40 356 394 2.2e2 SMART
WD40 397 436 8.59e-1 SMART
WD40 444 479 6.6e1 SMART
WD40 505 546 2.74e2 SMART
WD40 552 592 4.8e-2 SMART
low complexity region 609 632 N/A INTRINSIC
Pfam:HELP 656 715 1.4e-20 PFAM
WD40 716 757 1.18e-1 SMART
WD40 760 802 2.84e-4 SMART
WD40 805 844 1.91e1 SMART
WD40 853 891 2.64e2 SMART
WD40 892 929 3.45e-3 SMART
WD40 985 1026 4.55e-3 SMART
WD40 1029 1068 6.39e0 SMART
WD40 1071 1111 5.15e-2 SMART
WD40 1180 1221 1.9e2 SMART
WD40 1227 1267 1.38e0 SMART
low complexity region 1280 1297 N/A INTRINSIC
Pfam:HELP 1335 1410 2.4e-16 PFAM
Blast:WD40 1412 1462 8e-28 BLAST
WD40 1465 1507 1.56e-1 SMART
WD40 1510 1549 2.06e0 SMART
WD40 1558 1597 8.22e1 SMART
WD40 1599 1644 4.26e1 SMART
WD40 1690 1730 2.19e-5 SMART
WD40 1774 1813 5.97e-1 SMART
WD40 1884 1925 2.39e0 SMART
WD40 1931 1971 2.88e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110104
AA Change: C521W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: C521W

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 465 488 7.16e-1 SMART
ZnF_C3H1 490 509 5.27e1 SMART
ZnF_C3H1 545 567 5.55e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110105
AA Change: C652W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: C652W

DomainStartEndE-ValueType
low complexity region 298 306 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ZnF_C3H1 596 619 7.16e-1 SMART
ZnF_C3H1 621 640 5.27e1 SMART
ZnF_C3H1 676 698 5.55e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000220660
AA Change: C17W
Predicted Effect probably damaging
Transcript: ENSMUST00000221532
AA Change: C159W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222632
Predicted Effect probably benign
Transcript: ENSMUST00000223451
Predicted Effect probably benign
Transcript: ENSMUST00000223282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222146
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b T C 5: 137,567,640 (GRCm39) C425R probably damaging Het
Adam15 A G 3: 89,257,137 (GRCm39) S20P probably damaging Het
Adgra3 G A 5: 50,118,479 (GRCm39) T1023I probably benign Het
Angel2 T A 1: 190,671,285 (GRCm39) V46E probably damaging Het
Ankrd13c T A 3: 157,697,358 (GRCm39) M321K probably damaging Het
Atad2b C T 12: 4,992,018 (GRCm39) R206* probably null Het
Atp10b T A 11: 43,088,351 (GRCm39) F319Y probably benign Het
AW554918 A G 18: 25,533,161 (GRCm39) R272G probably damaging Het
Bpi T A 2: 158,103,065 (GRCm39) I70N probably damaging Het
Brca1 T C 11: 101,415,521 (GRCm39) D871G probably damaging Het
Capn3 G A 2: 120,312,689 (GRCm39) A160T probably damaging Het
Cenpe T C 3: 134,952,663 (GRCm39) L1451P possibly damaging Het
Chmp7 A G 14: 69,969,937 (GRCm39) M1T probably null Het
Csrnp1 G C 9: 119,802,612 (GRCm39) Q200E possibly damaging Het
Dscam G A 16: 96,621,074 (GRCm39) P545S probably damaging Het
Erap1 A G 13: 74,794,662 (GRCm39) E107G probably benign Het
Errfi1 A G 4: 150,949,843 (GRCm39) I49V probably benign Het
Fam171b T C 2: 83,710,533 (GRCm39) L735S probably damaging Het
Fancm T A 12: 65,139,264 (GRCm39) probably null Het
Fbp2 G C 13: 62,984,973 (GRCm39) P316R probably damaging Het
Fcer2a C A 8: 3,732,976 (GRCm39) G255V probably damaging Het
Fhip2a T A 19: 57,374,737 (GRCm39) I704N probably damaging Het
Fzd2 T C 11: 102,496,134 (GRCm39) S193P probably benign Het
Gak A G 5: 108,772,059 (GRCm39) V86A probably damaging Het
Gas2l3 A G 10: 89,269,631 (GRCm39) I7T probably benign Het
Gbp11 T C 5: 105,475,355 (GRCm39) H331R probably damaging Het
Gpr19 C T 6: 134,846,961 (GRCm39) V241M probably damaging Het
Grk6 G A 13: 55,606,612 (GRCm39) A437T probably damaging Het
Hip1 T C 5: 135,473,634 (GRCm39) D253G probably damaging Het
Ifna9 G C 4: 88,510,409 (GRCm39) Q72E possibly damaging Het
Il1r1 A G 1: 40,351,521 (GRCm39) T384A probably benign Het
Ip6k1 C A 9: 107,922,761 (GRCm39) C221* probably null Het
Kcna1 C A 6: 126,619,494 (GRCm39) E275D probably benign Het
Kcnt2 C T 1: 140,411,970 (GRCm39) Q468* probably null Het
Kin T C 2: 10,097,150 (GRCm39) V333A probably damaging Het
Leprot G T 4: 101,513,484 (GRCm39) V91L probably benign Het
Mettl21c A G 1: 44,056,344 (GRCm39) probably null Het
Myom2 T C 8: 15,172,384 (GRCm39) F1161S probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nipal2 A T 15: 34,625,168 (GRCm39) *72K probably null Het
Nol3 T C 8: 106,005,858 (GRCm39) V84A probably benign Het
Or2y16 C T 11: 49,334,732 (GRCm39) S18L probably benign Het
Or4c101 A T 2: 88,389,827 (GRCm39) I5F probably benign Het
Or8b42 T C 9: 38,341,620 (GRCm39) I14T probably damaging Het
Pcare A G 17: 72,056,473 (GRCm39) V1068A probably benign Het
Pdgfra T A 5: 75,349,671 (GRCm39) probably null Het
Pik3cb T C 9: 98,936,026 (GRCm39) D802G probably damaging Het
Plac8l1 A T 18: 42,311,996 (GRCm39) V141E probably damaging Het
Plxnb2 A G 15: 89,051,395 (GRCm39) S275P probably benign Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rapgef6 T A 11: 54,552,009 (GRCm39) I959K probably damaging Het
Scn5a T C 9: 119,324,628 (GRCm39) K1400R probably damaging Het
Sel1l A G 12: 91,793,458 (GRCm39) S263P probably damaging Het
Setd5 G A 6: 113,086,874 (GRCm39) V34I probably damaging Het
Slc34a1 A G 13: 24,003,052 (GRCm39) D234G probably damaging Het
Spink5 T A 18: 44,148,738 (GRCm39) S934T probably damaging Het
St18 A C 1: 6,915,793 (GRCm39) probably null Het
St3gal4 T C 9: 34,963,592 (GRCm39) I239V probably benign Het
Stag3 C T 5: 138,295,674 (GRCm39) T399I probably damaging Het
Syt11 T C 3: 88,669,674 (GRCm39) K6E probably damaging Het
Taf15 T C 11: 83,378,122 (GRCm39) Y121H possibly damaging Het
Tdh T C 14: 63,733,504 (GRCm39) Y113C probably damaging Het
Tgfbr1 T A 4: 47,410,688 (GRCm39) W406R probably damaging Het
Tgm6 A G 2: 129,993,202 (GRCm39) I563V possibly damaging Het
Tmem131 A G 1: 36,866,090 (GRCm39) probably null Het
Tmub2 T C 11: 102,178,312 (GRCm39) S72P probably benign Het
Trappc13 G A 13: 104,286,651 (GRCm39) T202I probably damaging Het
Trim9 T C 12: 70,319,202 (GRCm39) E449G probably damaging Het
Trip11 C A 12: 101,879,026 (GRCm39) G21V unknown Het
Ttll12 G A 15: 83,472,856 (GRCm39) R127C probably damaging Het
Vmn2r125 A T 4: 156,703,447 (GRCm39) Y275F probably damaging Het
Xrcc5 A G 1: 72,369,103 (GRCm39) D319G probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfhx3 C T 8: 109,675,121 (GRCm39) P2057L probably damaging Het
Other mutations in Zc3h14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Zc3h14 APN 12 98,713,783 (GRCm39) critical splice donor site probably null
IGL00946:Zc3h14 APN 12 98,726,142 (GRCm39) splice site probably benign
IGL00969:Zc3h14 APN 12 98,725,102 (GRCm39) missense probably benign 0.00
IGL01626:Zc3h14 APN 12 98,745,445 (GRCm39) missense possibly damaging 0.72
IGL01891:Zc3h14 APN 12 98,725,206 (GRCm39) unclassified probably benign
IGL02119:Zc3h14 APN 12 98,730,154 (GRCm39) missense probably benign 0.00
IGL02484:Zc3h14 APN 12 98,740,560 (GRCm39) missense probably benign 0.14
IGL02744:Zc3h14 APN 12 98,751,234 (GRCm39) missense possibly damaging 0.67
IGL02894:Zc3h14 APN 12 98,725,202 (GRCm39) critical splice donor site probably null
R0408:Zc3h14 UTSW 12 98,730,082 (GRCm39) missense probably damaging 1.00
R0739:Zc3h14 UTSW 12 98,723,460 (GRCm39) missense probably damaging 0.99
R0865:Zc3h14 UTSW 12 98,745,528 (GRCm39) critical splice donor site probably null
R0926:Zc3h14 UTSW 12 98,724,849 (GRCm39) missense possibly damaging 0.94
R1735:Zc3h14 UTSW 12 98,724,839 (GRCm39) missense probably damaging 1.00
R1743:Zc3h14 UTSW 12 98,745,448 (GRCm39) missense probably benign 0.04
R1848:Zc3h14 UTSW 12 98,719,091 (GRCm39) missense possibly damaging 0.89
R1851:Zc3h14 UTSW 12 98,726,613 (GRCm39) nonsense probably null
R1978:Zc3h14 UTSW 12 98,730,181 (GRCm39) missense probably damaging 0.97
R2011:Zc3h14 UTSW 12 98,746,527 (GRCm39) missense possibly damaging 0.76
R2198:Zc3h14 UTSW 12 98,719,069 (GRCm39) missense possibly damaging 0.94
R2198:Zc3h14 UTSW 12 98,719,068 (GRCm39) missense probably damaging 1.00
R2263:Zc3h14 UTSW 12 98,724,773 (GRCm39) missense probably benign 0.32
R3762:Zc3h14 UTSW 12 98,724,902 (GRCm39) missense probably damaging 1.00
R4210:Zc3h14 UTSW 12 98,751,658 (GRCm39) missense probably damaging 1.00
R4353:Zc3h14 UTSW 12 98,730,219 (GRCm39) missense possibly damaging 0.70
R4360:Zc3h14 UTSW 12 98,746,456 (GRCm39) missense probably benign 0.09
R4814:Zc3h14 UTSW 12 98,719,107 (GRCm39) missense probably damaging 1.00
R4815:Zc3h14 UTSW 12 98,719,107 (GRCm39) missense probably damaging 1.00
R4817:Zc3h14 UTSW 12 98,719,107 (GRCm39) missense probably damaging 1.00
R4947:Zc3h14 UTSW 12 98,726,083 (GRCm39) missense probably benign
R5077:Zc3h14 UTSW 12 98,723,465 (GRCm39) critical splice donor site probably null
R5431:Zc3h14 UTSW 12 98,746,324 (GRCm39) missense possibly damaging 0.94
R5783:Zc3h14 UTSW 12 98,723,434 (GRCm39) missense probably damaging 0.99
R5850:Zc3h14 UTSW 12 98,745,414 (GRCm39) missense probably damaging 0.97
R6034:Zc3h14 UTSW 12 98,737,632 (GRCm39) missense probably benign 0.01
R6034:Zc3h14 UTSW 12 98,737,632 (GRCm39) missense probably benign 0.01
R6291:Zc3h14 UTSW 12 98,726,087 (GRCm39) missense probably damaging 1.00
R6338:Zc3h14 UTSW 12 98,724,849 (GRCm39) missense possibly damaging 0.94
R6595:Zc3h14 UTSW 12 98,723,285 (GRCm39) missense probably damaging 0.98
R6737:Zc3h14 UTSW 12 98,751,305 (GRCm39) missense probably damaging 1.00
R6932:Zc3h14 UTSW 12 98,737,336 (GRCm39) intron probably benign
R7074:Zc3h14 UTSW 12 98,724,859 (GRCm39) missense possibly damaging 0.96
R7204:Zc3h14 UTSW 12 98,737,615 (GRCm39) missense probably damaging 1.00
R7237:Zc3h14 UTSW 12 98,746,408 (GRCm39) missense probably benign 0.34
R7267:Zc3h14 UTSW 12 98,751,988 (GRCm39) missense probably damaging 1.00
R8753:Zc3h14 UTSW 12 98,724,831 (GRCm39) missense probably benign 0.12
R9169:Zc3h14 UTSW 12 98,745,505 (GRCm39) missense probably damaging 1.00
R9610:Zc3h14 UTSW 12 98,737,663 (GRCm39) missense possibly damaging 0.92
RF020:Zc3h14 UTSW 12 98,746,541 (GRCm39) critical splice donor site probably null
RF024:Zc3h14 UTSW 12 98,725,120 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACCACAGAGTATTGAAGCCAGAG -3'
(R):5'- CTGGTGACGACACTGACAATCAGAG -3'

Sequencing Primer
(F):5'- ttgaaaaacctgagctatctttcc -3'
(R):5'- TCAGAGTGAACAATGCTCAAATC -3'
Posted On 2014-04-13