Incidental Mutation 'R1735:Zc3h14'
ID 199661
Institutional Source Beutler Lab
Gene Symbol Zc3h14
Ensembl Gene ENSMUSG00000021012
Gene Name zinc finger CCCH type containing 14
Synonyms 1700016A15Rik, 1010001P15Rik, 2700069A02Rik
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98746964-98787753 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98758580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 167 (P167L)
Ref Sequence ENSEMBL: ENSMUSP00000105732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057000] [ENSMUST00000110104] [ENSMUST00000110105] [ENSMUST00000221532] [ENSMUST00000223083]
AlphaFold Q8BJ05
Predicted Effect probably damaging
Transcript: ENSMUST00000057000
AA Change: P167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
AA Change: P167L

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 damaging
Transcript: ENSMUST00000110104
AA Change: P167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
AA Change: P167L

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: P167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
AA Change: P167L

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 probably benign
Transcript: ENSMUST00000221532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221576
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222913
Predicted Effect probably benign
Transcript: ENSMUST00000223083
Predicted Effect probably benign
Transcript: ENSMUST00000223451
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230110C19Rik A C 9: 8,027,265 (GRCm38) S91A probably benign Het
Acot5 A T 12: 84,075,487 (GRCm38) I282F probably benign Het
Adam19 C A 11: 46,138,917 (GRCm38) Q730K probably benign Het
Adgrv1 A G 13: 81,487,947 (GRCm38) V3481A possibly damaging Het
Akr1c20 T C 13: 4,487,208 (GRCm38) D316G probably benign Het
Ap3b1 G A 13: 94,493,717 (GRCm38) V827I unknown Het
Aph1a T A 3: 95,895,509 (GRCm38) D140E probably damaging Het
Arhgef19 G T 4: 141,249,618 (GRCm38) V502L possibly damaging Het
Arl9 T C 5: 77,006,626 (GRCm38) F67S probably damaging Het
B430305J03Rik G A 3: 61,363,940 (GRCm38) probably benign Het
B4galnt2 A G 11: 95,890,983 (GRCm38) F119L probably damaging Het
Bcap29 T A 12: 31,630,840 (GRCm38) N49I probably damaging Het
C77080 G T 4: 129,223,577 (GRCm38) S476R probably damaging Het
Capn11 T A 17: 45,632,401 (GRCm38) K616* probably null Het
Cdh12 T A 15: 21,520,366 (GRCm38) Y306N probably damaging Het
Cep350 T A 1: 155,953,214 (GRCm38) N315Y probably damaging Het
Cited2 C A 10: 17,724,046 (GRCm38) P34Q probably damaging Het
Cmya5 A T 13: 93,089,789 (GRCm38) D2930E probably benign Het
Cog3 T A 14: 75,729,321 (GRCm38) K470* probably null Het
Commd10 A G 18: 46,990,485 (GRCm38) T136A probably benign Het
Csf2ra C A 19: 61,226,344 (GRCm38) D181Y probably damaging Het
Csmd1 T A 8: 15,932,610 (GRCm38) I2686F probably damaging Het
Dhx29 T C 13: 112,945,086 (GRCm38) S415P probably benign Het
Dsel A T 1: 111,860,915 (GRCm38) F630Y probably damaging Het
Ell T A 8: 70,578,940 (GRCm38) I96N possibly damaging Het
Ephx2 T A 14: 66,088,303 (GRCm38) I358L probably benign Het
Fam162b A G 10: 51,587,211 (GRCm38) I120T probably damaging Het
Fam187a T C 11: 102,885,780 (GRCm38) Y137H probably damaging Het
Fastk T C 5: 24,441,803 (GRCm38) E403G probably damaging Het
Fcrlb C A 1: 170,907,332 (GRCm38) V409F probably benign Het
Flot2 G T 11: 78,058,005 (GRCm38) A269S probably benign Het
Gpd2 T A 2: 57,355,551 (GRCm38) N419K probably damaging Het
Hecw1 A T 13: 14,377,765 (GRCm38) M61K probably null Het
Htr2a T C 14: 74,706,128 (GRCm38) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,350,965 (GRCm38) T125A probably benign Het
Klhl40 T C 9: 121,779,938 (GRCm38) S390P probably benign Het
Lonp1 G A 17: 56,614,956 (GRCm38) T808I probably damaging Het
Loxhd1 A C 18: 77,404,889 (GRCm38) D1342A probably damaging Het
Lrat T C 3: 82,897,110 (GRCm38) I187V probably benign Het
Lrif1 T C 3: 106,735,846 (GRCm38) *238Q probably null Het
Lrp2bp T C 8: 46,011,988 (GRCm38) F48S probably benign Het
Mafg A G 11: 120,629,678 (GRCm38) M32T possibly damaging Het
Map4 C T 9: 110,034,955 (GRCm38) T416I probably benign Het
N4bp2 T C 5: 65,808,316 (GRCm38) F1236S probably damaging Het
Nfatc3 A G 8: 106,083,834 (GRCm38) D414G probably damaging Het
Nrip2 T G 6: 128,405,074 (GRCm38) V50G probably damaging Het
Olfr1449 T A 19: 12,934,843 (GRCm38) I35N probably damaging Het
Olfr16 A G 1: 172,956,807 (GRCm38) N4S probably benign Het
Olfr432 A T 1: 174,050,799 (GRCm38) K142I probably benign Het
Olfr608 T A 7: 103,470,146 (GRCm38) F36I possibly damaging Het
Pcdhb18 A T 18: 37,490,769 (GRCm38) H384L probably benign Het
Pik3r1 A T 13: 101,686,374 (GRCm38) Y607N probably damaging Het
Plagl2 G A 2: 153,232,477 (GRCm38) T168I probably damaging Het
Polr2a A G 11: 69,742,396 (GRCm38) S912P probably damaging Het
Ppp1r16b A G 2: 158,761,495 (GRCm38) K447E possibly damaging Het
Prkd1 T C 12: 50,342,039 (GRCm38) E907G possibly damaging Het
Rabep2 A G 7: 126,444,540 (GRCm38) R470G probably damaging Het
Rasal2 T C 1: 157,174,160 (GRCm38) Y518C probably damaging Het
Rbmxl1 A G 8: 78,506,082 (GRCm38) Y211H probably damaging Het
Rdh7 T C 10: 127,884,585 (GRCm38) Y306C probably benign Het
Rtn3 T C 19: 7,457,911 (GRCm38) I220V probably damaging Het
Scn8a A G 15: 101,015,861 (GRCm38) N1045D possibly damaging Het
Scube1 T C 15: 83,607,437 (GRCm38) H952R probably damaging Het
Sf3b1 A G 1: 55,000,652 (GRCm38) I690T probably damaging Het
Sharpin T C 15: 76,347,936 (GRCm38) K240R probably benign Het
Skint5 A G 4: 113,563,459 (GRCm38) I1108T unknown Het
Snip1 A G 4: 125,071,201 (GRCm38) D133G probably benign Het
St3gal3 T C 4: 118,014,774 (GRCm38) Y77C probably damaging Het
Sytl3 T C 17: 6,715,481 (GRCm38) V112A probably benign Het
Tnxb C T 17: 34,717,970 (GRCm38) P3718S probably damaging Het
Ttc24 A T 3: 88,073,094 (GRCm38) probably null Het
Ubr3 A T 2: 70,009,129 (GRCm38) E1529V probably damaging Het
Utrn T A 10: 12,710,138 (GRCm38) H965L probably benign Het
Xrn2 T A 2: 147,061,423 (GRCm38) L781Q probably damaging Het
Zbtb11 T C 16: 55,990,682 (GRCm38) I401T probably benign Het
Zfp609 G T 9: 65,703,092 (GRCm38) S863* probably null 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
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
R1978:Zc3h14 UTSW 12 98,763,922 (GRCm38) missense probably damaging 0.97
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'- GGGCGTGGTAGTATAAGCCTTTAACC -3'
(R):5'- AGTACCAGTGTCTGCATTTCTACTTGC -3'

Sequencing Primer
(F):5'- acaaacaaacaaacaaacaaacaaac -3'
(R):5'- GCAGGTGGTCGATAAATTTCAATAG -3'
Posted On 2014-05-23