Incidental Mutation 'R1978:Zc3h14'
ID 222052
Institutional Source Beutler Lab
Gene Symbol Zc3h14
Ensembl Gene ENSMUSG00000021012
Gene Name zinc finger CCCH type containing 14
Synonyms 1700016A15Rik, 1010001P15Rik, 2700069A02Rik
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98746964-98787753 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98763922 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 46 (I46R)
Ref Sequence ENSEMBL: ENSMUSP00000152746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057000] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532]
AlphaFold Q8BJ05
Predicted Effect possibly damaging
Transcript: ENSMUST00000057000
AA Change: I408R

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: I408R

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 possibly damaging
Transcript: ENSMUST00000110104
AA Change: I408R

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: I408R

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 possibly damaging
Transcript: ENSMUST00000110105
AA Change: I408R

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: I408R

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 noncoding transcript
Transcript: ENSMUST00000220865
Predicted Effect probably damaging
Transcript: ENSMUST00000221532
AA Change: I46R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222913
Predicted Effect possibly damaging
Transcript: ENSMUST00000223451
AA Change: I79R

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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
0610040J01Rik T A 5: 63,898,537 (GRCm38) C205* probably null Het
2810474O19Rik T A 6: 149,326,432 (GRCm38) N325K probably benign Het
4921539E11Rik T A 4: 103,270,764 (GRCm38) T55S possibly damaging Het
Akap12 A G 10: 4,313,855 (GRCm38) D88G probably benign Het
Ankrd53 C A 6: 83,763,203 (GRCm38) F84L probably damaging Het
Apol7b A C 15: 77,423,339 (GRCm38) F319V probably damaging Het
Bsn A G 9: 108,114,549 (GRCm38) S1335P probably benign Het
Cep192 T C 18: 67,803,158 (GRCm38) probably null Het
Cfap57 A G 4: 118,593,132 (GRCm38) S598P probably benign Het
Commd8 T C 5: 72,165,499 (GRCm38) H25R probably damaging Het
Crisp4 T C 1: 18,128,665 (GRCm38) I143V probably benign Het
Cyp4a12b A T 4: 115,438,145 (GRCm38) T483S probably benign Het
Dbx2 C T 15: 95,632,353 (GRCm38) M244I probably damaging Het
Dnah6 T G 6: 73,121,970 (GRCm38) H1982P possibly damaging Het
Fam220a C A 5: 143,563,127 (GRCm38) P98Q probably damaging Het
Ggnbp1 A G 17: 27,029,543 (GRCm38) K29E possibly damaging Het
Gm14569 A C X: 36,432,128 (GRCm38) M976R probably benign Het
Gm9573 T A 17: 35,622,965 (GRCm38) probably benign Het
Hck G T 2: 153,129,856 (GRCm38) W112C probably damaging Het
Heatr5a A T 12: 51,939,658 (GRCm38) S591T possibly damaging Het
Hhat A G 1: 192,717,107 (GRCm38) S242P probably benign Het
Hnrnpll A G 17: 80,044,518 (GRCm38) S333P probably benign Het
Hoxc6 T C 15: 103,010,007 (GRCm38) probably null Het
Inpp5j G A 11: 3,502,150 (GRCm38) P367S probably damaging Het
Lamc2 A G 1: 153,133,597 (GRCm38) probably null Het
Loxhd1 T A 18: 77,321,642 (GRCm38) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,335,304 (GRCm38) probably null Het
Mkln1 C T 6: 31,490,530 (GRCm38) Q60* probably null Het
Mybph C A 1: 134,196,996 (GRCm38) H185N probably benign Het
Myo1g T C 11: 6,520,829 (GRCm38) D9G possibly damaging Het
Myo6 A T 9: 80,228,925 (GRCm38) D110V probably damaging Het
Ncoa7 A G 10: 30,691,299 (GRCm38) V412A probably benign Het
Neb T C 2: 52,287,345 (GRCm38) K1328R probably damaging Het
Olfm5 T A 7: 104,164,741 (GRCm38) Q22L unknown Het
Olfr1106 C T 2: 87,048,835 (GRCm38) V134M possibly damaging Het
Olfr1328 A T 4: 118,934,184 (GRCm38) Y221* probably null Het
Olfr1355 A G 10: 78,879,280 (GRCm38) Y36C probably damaging Het
Olfr1414 C A 1: 92,511,777 (GRCm38) G84C probably damaging Het
Olfr1423 T C 19: 12,036,341 (GRCm38) T134A probably benign Het
Olfr414 T A 1: 174,431,091 (GRCm38) I221N probably damaging Het
P3h1 A T 4: 119,247,976 (GRCm38) Q717L probably null Het
Pclo T C 5: 14,713,795 (GRCm38) I4094T unknown Het
Pfdn6 G A 17: 33,939,077 (GRCm38) R73W probably benign Het
Phyhipl A C 10: 70,559,761 (GRCm38) M205R possibly damaging Het
Pitpnm1 C T 19: 4,107,973 (GRCm38) probably null Het
Plcg1 A G 2: 160,752,578 (GRCm38) probably null Het
Pnldc1 A G 17: 12,906,505 (GRCm38) S81P possibly damaging Het
Pno1 T C 11: 17,204,519 (GRCm38) I221V possibly damaging Het
Porcn A G X: 8,204,301 (GRCm38) V75A probably damaging Het
Prkcg T A 7: 3,305,346 (GRCm38) C69S probably damaging Het
Rbbp6 G T 7: 122,999,488 (GRCm38) probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Scly A G 1: 91,320,169 (GRCm38) D413G probably damaging Het
Scn11a G A 9: 119,780,795 (GRCm38) R996* probably null Het
Slc6a13 A T 6: 121,332,373 (GRCm38) D281V probably damaging Het
Slfn5 T C 11: 82,956,616 (GRCm38) V109A probably benign Het
Smyd1 A T 6: 71,312,719 (GRCm38) probably null Het
Snx29 T A 16: 11,367,724 (GRCm38) M57K probably benign Het
Stag1 T G 9: 100,888,086 (GRCm38) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm38) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,189,351 (GRCm38) I392V probably benign Het
Tchh T C 3: 93,446,799 (GRCm38) L1182P unknown Het
Tle3 T A 9: 61,394,633 (GRCm38) V108E probably damaging Het
Tmem144 T C 3: 79,825,400 (GRCm38) probably null Het
Tpr T G 1: 150,419,907 (GRCm38) L894V possibly damaging Het
Trappc9 A T 15: 73,000,025 (GRCm38) V472E probably damaging Het
Trim38 T C 13: 23,791,098 (GRCm38) V340A probably damaging Het
Ttc37 T C 13: 76,134,815 (GRCm38) V752A probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,159,509 (GRCm38) I197N possibly damaging Het
Vmn1r26 T C 6: 58,009,126 (GRCm38) Y26C possibly damaging Het
Vwa3a A G 7: 120,758,954 (GRCm38) I83V probably null Het
Xirp1 C T 9: 120,018,591 (GRCm38) E409K probably benign Het
Zfp976 A G 7: 42,613,841 (GRCm38) C191R probably damaging Het
Other mutations in Zc3h14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Zc3h14 APN 12 98,747,524 (GRCm38) critical splice donor site probably null
IGL00946:Zc3h14 APN 12 98,759,883 (GRCm38) splice site probably benign
IGL00969:Zc3h14 APN 12 98,758,843 (GRCm38) missense probably benign 0.00
IGL01626:Zc3h14 APN 12 98,779,186 (GRCm38) missense possibly damaging 0.72
IGL01891:Zc3h14 APN 12 98,758,947 (GRCm38) unclassified probably benign
IGL02119:Zc3h14 APN 12 98,763,895 (GRCm38) missense probably benign 0.00
IGL02484:Zc3h14 APN 12 98,774,301 (GRCm38) missense probably benign 0.14
IGL02744:Zc3h14 APN 12 98,784,975 (GRCm38) missense possibly damaging 0.67
IGL02894:Zc3h14 APN 12 98,758,943 (GRCm38) critical splice donor site probably null
R0408:Zc3h14 UTSW 12 98,763,823 (GRCm38) missense probably damaging 1.00
R0739:Zc3h14 UTSW 12 98,757,201 (GRCm38) missense probably damaging 0.99
R0865:Zc3h14 UTSW 12 98,779,269 (GRCm38) critical splice donor site probably null
R0926:Zc3h14 UTSW 12 98,758,590 (GRCm38) missense possibly damaging 0.94
R1530:Zc3h14 UTSW 12 98,785,003 (GRCm38) missense probably damaging 1.00
R1735:Zc3h14 UTSW 12 98,758,580 (GRCm38) missense probably damaging 1.00
R1743:Zc3h14 UTSW 12 98,779,189 (GRCm38) missense probably benign 0.04
R1848:Zc3h14 UTSW 12 98,752,832 (GRCm38) missense possibly damaging 0.89
R1851:Zc3h14 UTSW 12 98,760,354 (GRCm38) nonsense probably null
R2011:Zc3h14 UTSW 12 98,780,268 (GRCm38) missense possibly damaging 0.76
R2198:Zc3h14 UTSW 12 98,752,810 (GRCm38) missense possibly damaging 0.94
R2198:Zc3h14 UTSW 12 98,752,809 (GRCm38) missense probably damaging 1.00
R2263:Zc3h14 UTSW 12 98,758,514 (GRCm38) missense probably benign 0.32
R3762:Zc3h14 UTSW 12 98,758,643 (GRCm38) missense probably damaging 1.00
R4210:Zc3h14 UTSW 12 98,785,399 (GRCm38) missense probably damaging 1.00
R4353:Zc3h14 UTSW 12 98,763,960 (GRCm38) missense possibly damaging 0.70
R4360:Zc3h14 UTSW 12 98,780,197 (GRCm38) missense probably benign 0.09
R4814:Zc3h14 UTSW 12 98,752,848 (GRCm38) missense probably damaging 1.00
R4815:Zc3h14 UTSW 12 98,752,848 (GRCm38) missense probably damaging 1.00
R4817:Zc3h14 UTSW 12 98,752,848 (GRCm38) missense probably damaging 1.00
R4947:Zc3h14 UTSW 12 98,759,824 (GRCm38) missense probably benign
R5077:Zc3h14 UTSW 12 98,757,206 (GRCm38) critical splice donor site probably null
R5431:Zc3h14 UTSW 12 98,780,065 (GRCm38) missense possibly damaging 0.94
R5783:Zc3h14 UTSW 12 98,757,175 (GRCm38) missense probably damaging 0.99
R5850:Zc3h14 UTSW 12 98,779,155 (GRCm38) missense probably damaging 0.97
R6034:Zc3h14 UTSW 12 98,771,373 (GRCm38) missense probably benign 0.01
R6034:Zc3h14 UTSW 12 98,771,373 (GRCm38) missense probably benign 0.01
R6291:Zc3h14 UTSW 12 98,759,828 (GRCm38) missense probably damaging 1.00
R6338:Zc3h14 UTSW 12 98,758,590 (GRCm38) missense possibly damaging 0.94
R6595:Zc3h14 UTSW 12 98,757,026 (GRCm38) missense probably damaging 0.98
R6737:Zc3h14 UTSW 12 98,785,046 (GRCm38) missense probably damaging 1.00
R6932:Zc3h14 UTSW 12 98,771,077 (GRCm38) intron probably benign
R7074:Zc3h14 UTSW 12 98,758,600 (GRCm38) missense possibly damaging 0.96
R7204:Zc3h14 UTSW 12 98,771,356 (GRCm38) missense probably damaging 1.00
R7237:Zc3h14 UTSW 12 98,780,149 (GRCm38) missense probably benign 0.34
R7267:Zc3h14 UTSW 12 98,785,729 (GRCm38) missense probably damaging 1.00
R8753:Zc3h14 UTSW 12 98,758,572 (GRCm38) missense probably benign 0.12
R9169:Zc3h14 UTSW 12 98,779,246 (GRCm38) missense probably damaging 1.00
R9610:Zc3h14 UTSW 12 98,771,404 (GRCm38) missense possibly damaging 0.92
RF020:Zc3h14 UTSW 12 98,780,282 (GRCm38) critical splice donor site probably null
RF024:Zc3h14 UTSW 12 98,758,861 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACGTGATATTAGCCGTGGAG -3'
(R):5'- AACAGCAGTTAAAGCATGTGTTGC -3'

Sequencing Primer
(F):5'- CCGTGGAGTTATGAAGTTGTAACC -3'
(R):5'- GCTTAGCCTAGAGAGCATCTC -3'
Posted On 2014-08-25