Incidental Mutation 'IGL01726:Zc3h7b'
ID105274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3h7b
Ensembl Gene ENSMUSG00000022390
Gene Namezinc finger CCCH type containing 7B
SynonymsScrg3
Accession Numbers

Genbank: NM_001081016; MGI: 1328310

Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL01726
Quality Score
Status
Chromosome15
Chromosomal Location81745057-81796260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81771799 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 116 (I116N)
Ref Sequence ENSEMBL: ENSMUSP00000105181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109554] [ENSMUST00000230946]
Predicted Effect possibly damaging
Transcript: ENSMUST00000109554
AA Change: I116N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: I116N

DomainStartEndE-ValueType
Pfam:TPR_11 34 113 2.3e-12 PFAM
Pfam:TPR_1 82 115 2.4e-6 PFAM
Pfam:TPR_8 82 115 8.2e-4 PFAM
Pfam:TPR_8 116 143 4.8e-3 PFAM
low complexity region 294 309 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
ZnF_C3H1 482 508 2.15e1 SMART
ZnF_C3H1 612 638 2.03e1 SMART
ZnF_C3H1 757 782 8.31e0 SMART
ZnF_C2H2 843 867 2.86e-1 SMART
ZnF_C3H1 889 914 7.81e-1 SMART
low complexity region 959 981 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230368
Predicted Effect possibly damaging
Transcript: ENSMUST00000230946
AA Change: I111N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231108
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(9) : Gene trapped(9)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Enthd1 A C 15: 80,452,451 L594R probably damaging Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Olfr678 A G 7: 105,069,629 E54G probably damaging Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rhou A T 8: 123,654,141 T66S possibly damaging Het
Rspo3 A T 10: 29,504,708 D103E probably benign Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
Slc25a32 A G 15: 39,102,071 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Zc3h7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01955:Zc3h7b APN 15 81792004 missense probably benign 0.10
IGL02526:Zc3h7b APN 15 81793137 missense probably benign 0.10
IGL02582:Zc3h7b APN 15 81769140 missense probably benign 0.05
IGL02736:Zc3h7b APN 15 81791974 missense probably benign 0.02
F6893:Zc3h7b UTSW 15 81778671 missense possibly damaging 0.94
R0212:Zc3h7b UTSW 15 81776328 missense probably benign 0.00
R0242:Zc3h7b UTSW 15 81768830 splice site probably benign
R0471:Zc3h7b UTSW 15 81781968 missense probably damaging 1.00
R0590:Zc3h7b UTSW 15 81776998 missense possibly damaging 0.74
R1530:Zc3h7b UTSW 15 81777088 missense probably benign
R1563:Zc3h7b UTSW 15 81777088 missense probably benign
R1565:Zc3h7b UTSW 15 81777088 missense probably benign
R1566:Zc3h7b UTSW 15 81768834 missense possibly damaging 0.91
R1670:Zc3h7b UTSW 15 81777067 missense probably benign
R1712:Zc3h7b UTSW 15 81777088 missense probably benign
R1727:Zc3h7b UTSW 15 81768029 missense probably damaging 1.00
R2069:Zc3h7b UTSW 15 81792328 missense probably damaging 0.98
R2375:Zc3h7b UTSW 15 81792502 missense probably benign 0.17
R2656:Zc3h7b UTSW 15 81780430 missense probably damaging 1.00
R4660:Zc3h7b UTSW 15 81792250 missense probably benign 0.07
R4764:Zc3h7b UTSW 15 81769183 critical splice donor site probably null
R4815:Zc3h7b UTSW 15 81793663 missense probably damaging 1.00
R4999:Zc3h7b UTSW 15 81779133 missense probably damaging 1.00
R5086:Zc3h7b UTSW 15 81793174 missense probably damaging 0.96
R5169:Zc3h7b UTSW 15 81773314 missense probably benign 0.01
R5395:Zc3h7b UTSW 15 81772501 missense possibly damaging 0.50
R5407:Zc3h7b UTSW 15 81785891 missense probably damaging 0.99
R5587:Zc3h7b UTSW 15 81771858 missense possibly damaging 0.80
R5721:Zc3h7b UTSW 15 81773298 missense probably benign 0.02
R6001:Zc3h7b UTSW 15 81792035 missense possibly damaging 0.89
R6151:Zc3h7b UTSW 15 81778710 critical splice donor site probably null
R6248:Zc3h7b UTSW 15 81783185 missense probably damaging 1.00
R6397:Zc3h7b UTSW 15 81792854 missense probably benign 0.03
R6502:Zc3h7b UTSW 15 81769051 missense probably benign 0.01
R7248:Zc3h7b UTSW 15 81771787 missense possibly damaging 0.46
R7397:Zc3h7b UTSW 15 81769153 missense possibly damaging 0.50
R7450:Zc3h7b UTSW 15 81783080 missense probably benign
R7471:Zc3h7b UTSW 15 81780481 missense probably damaging 1.00
R7575:Zc3h7b UTSW 15 81777885 nonsense probably null
R7645:Zc3h7b UTSW 15 81780602 missense probably damaging 1.00
R7650:Zc3h7b UTSW 15 81793650 missense possibly damaging 0.81
R7881:Zc3h7b UTSW 15 81780478 missense probably damaging 1.00
R7918:Zc3h7b UTSW 15 81768988 missense probably damaging 0.98
R8001:Zc3h7b UTSW 15 81779260 nonsense probably null
Posted On2014-01-21