Incidental Mutation 'R6737:Zc3h14'
ID 530265
Institutional Source Beutler Lab
Gene Symbol Zc3h14
Ensembl Gene ENSMUSG00000021012
Gene Name zinc finger CCCH type containing 14
Synonyms 2700069A02Rik, 1010001P15Rik, 1700016A15Rik
MMRRC Submission 044855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6737 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 98713223-98754012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98751305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 667 (K667E)
Ref Sequence ENSEMBL: ENSMUSP00000105732 (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: K241E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021399
Gene: ENSMUSG00000021012
AA Change: K241E

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: K511E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: K511E

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: K536E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: K536E

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: K667E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: K667E

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: K32E
Predicted Effect probably benign
Transcript: ENSMUST00000221532
AA Change: K174E

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221576
Predicted Effect probably benign
Transcript: ENSMUST00000223451
Predicted Effect probably benign
Transcript: ENSMUST00000223282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222717
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,456 (GRCm39) R114G probably damaging Het
Atm A T 9: 53,397,351 (GRCm39) S1661T probably benign Het
Castor1 A G 11: 4,171,685 (GRCm39) D303G probably damaging Het
Cd69 C T 6: 129,245,262 (GRCm39) A188T probably benign Het
Cecr2 G T 6: 120,714,084 (GRCm39) L225F possibly damaging Het
Cep295 A G 9: 15,243,647 (GRCm39) V1603A possibly damaging Het
Clec4g T C 8: 3,757,716 (GRCm39) probably benign Het
Clptm1 A T 7: 19,371,001 (GRCm39) probably null Het
Crybg2 G T 4: 133,800,001 (GRCm39) G387V probably damaging Het
Ctcf T A 8: 106,391,140 (GRCm39) M249K probably benign Het
Ctnnd2 C A 15: 30,966,980 (GRCm39) S952* probably null Het
Cxcr2 T C 1: 74,197,790 (GRCm39) F95L probably benign Het
Ddx55 C A 5: 124,691,008 (GRCm39) T5K probably damaging Het
Depp1 G T 6: 116,629,058 (GRCm39) V134L possibly damaging Het
Eif2ak2 T C 17: 79,171,377 (GRCm39) N342S probably benign Het
Eif2ak4 TGG TG 2: 118,292,749 (GRCm39) probably null Het
Epb41l2 C G 10: 25,364,916 (GRCm39) probably null Het
Fam234b A G 6: 135,205,513 (GRCm39) K493E probably damaging Het
Fndc7 C A 3: 108,779,594 (GRCm39) V317L probably damaging Het
Fpr-rs6 T C 17: 20,403,339 (GRCm39) I7M probably benign Het
Gal3st1 T A 11: 3,948,903 (GRCm39) I370N probably benign Het
Glo1 C T 17: 30,816,814 (GRCm39) S114N probably benign Het
Grik1 T C 16: 87,848,279 (GRCm39) D163G probably damaging Het
Grxcr1 T C 5: 68,267,835 (GRCm39) C195R probably damaging Het
Hdac9 T C 12: 34,265,451 (GRCm39) N806S probably damaging Het
Igfn1 T C 1: 135,897,605 (GRCm39) N987S probably benign Het
Klhl29 G T 12: 5,260,124 (GRCm39) S31R possibly damaging Het
Lama4 C T 10: 38,970,907 (GRCm39) R1491C probably damaging Het
Lmtk3 T C 7: 45,443,051 (GRCm39) L578P probably damaging Het
Lrrk2 A C 15: 91,607,421 (GRCm39) M595L possibly damaging Het
Mmp27 A T 9: 7,571,955 (GRCm39) N52Y possibly damaging Het
Mrc1 C T 2: 14,276,088 (GRCm39) A474V possibly damaging Het
Msl1 A G 11: 98,694,908 (GRCm39) H134R probably damaging Het
Muc5b T C 7: 141,411,236 (GRCm39) M1394T unknown Het
Myof G A 19: 37,931,962 (GRCm39) T968I probably benign Het
Nat8f2 A T 6: 85,845,194 (GRCm39) M56K probably benign Het
Ncoa5 C T 2: 164,844,055 (GRCm39) G116D probably damaging Het
Ndst2 A G 14: 20,777,562 (GRCm39) L494P probably damaging Het
Nfatc3 T A 8: 106,810,601 (GRCm39) V459E probably damaging Het
Nup133 A T 8: 124,633,030 (GRCm39) Y1034N probably damaging Het
Nup153 A T 13: 46,842,682 (GRCm39) S829T probably benign Het
Or3a1b A G 11: 74,012,732 (GRCm39) S206G probably benign Het
Or4f47 T C 2: 111,972,548 (GRCm39) F86S probably damaging Het
Or52a24 C T 7: 103,381,357 (GRCm39) L75F probably damaging Het
Or5ac19 A G 16: 59,089,175 (GRCm39) L285P possibly damaging Het
Pcdh18 C A 3: 49,710,344 (GRCm39) V324F probably damaging Het
Pcdhb5 T A 18: 37,455,723 (GRCm39) L701H probably damaging Het
Plau T G 14: 20,887,884 (GRCm39) Y43D probably damaging Het
Pld5 T A 1: 175,917,588 (GRCm39) N53I probably damaging Het
Pon2 T A 6: 5,266,183 (GRCm39) I279F probably benign Het
Prep A T 10: 44,973,591 (GRCm39) K233I possibly damaging Het
Rap1b T C 10: 117,658,713 (GRCm39) Y40C probably damaging Het
Ric8a T C 7: 140,438,789 (GRCm39) probably null Het
Rnf19b T C 4: 128,979,344 (GRCm39) probably benign Het
Rpl9-ps6 A C 19: 32,443,727 (GRCm39) S75R probably damaging Het
Sh3bp2 A G 5: 34,719,818 (GRCm39) Y609C probably damaging Het
Skint5 T C 4: 113,392,936 (GRCm39) N1232S unknown Het
Slc28a1 T G 7: 80,818,996 (GRCm39) V615G probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx13 T G 12: 35,190,185 (GRCm39) N845K probably damaging Het
Srms T C 2: 180,851,253 (GRCm39) Y171C probably damaging Het
Supt6 A G 11: 78,122,644 (GRCm39) L193P probably damaging Het
Syt7 G A 19: 10,421,408 (GRCm39) V531M probably damaging Het
Tmem255b T C 8: 13,507,096 (GRCm39) probably null Het
Tnik A T 3: 28,650,235 (GRCm39) K449N possibly damaging Het
Trim29 A T 9: 43,230,681 (GRCm39) D288V probably benign Het
Ttc13 T A 8: 125,408,900 (GRCm39) probably null Het
Uchl3 A T 14: 101,928,033 (GRCm39) D167V probably damaging Het
Ugt3a1 T C 15: 9,311,895 (GRCm39) V379A probably benign Het
Vps13b A G 15: 35,910,757 (GRCm39) D3507G probably damaging Het
Wfdc2 A T 2: 164,405,362 (GRCm39) K88* probably null Het
Ylpm1 C A 12: 85,077,620 (GRCm39) H1448Q 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
R1530:Zc3h14 UTSW 12 98,751,262 (GRCm39) missense probably damaging 1.00
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
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'- CATGGTGTTTGTGAAGTCCCTC -3'
(R):5'- GACAATCAGAGTGAACAATGCTC -3'

Sequencing Primer
(F):5'- GGTGTTTGTGAAGTCCCTCTAAAAAG -3'
(R):5'- GGCAACAACATCTTTTAATGCAG -3'
Posted On 2018-08-01