Incidental Mutation 'R4274:Zcchc7'
ID324694
Institutional Source Beutler Lab
Gene Symbol Zcchc7
Ensembl Gene ENSMUSG00000035649
Gene Namezinc finger, CCHC domain containing 7
SynonymsD4Wsu132e, 4930572I07Rik
MMRRC Submission 041077-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.308) question?
Stock #R4274 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location44755877-44932215 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44931335 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 496 (H496Y)
Ref Sequence ENSEMBL: ENSMUSP00000103454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107824] [ENSMUST00000147272]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107823
Predicted Effect possibly damaging
Transcript: ENSMUST00000107824
AA Change: H496Y

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: H496Y

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
ZnF_C2HC 237 253 4.13e-3 SMART
ZnF_C2HC 259 275 1.51e0 SMART
ZnF_C2HC 300 316 1.08e0 SMART
low complexity region 324 336 N/A INTRINSIC
ZnF_C2HC 344 360 9.16e-2 SMART
low complexity region 497 517 N/A INTRINSIC
low complexity region 530 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126968
SMART Domains Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649

DomainStartEndE-ValueType
ZnF_C2HC 14 30 9.16e-2 SMART
low complexity region 52 68 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000147272
AA Change: H175Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: H175Y

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
ZnF_C2HC 23 39 9.16e-2 SMART
low complexity region 176 196 N/A INTRINSIC
low complexity region 209 217 N/A INTRINSIC
Meta Mutation Damage Score 0.1004 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,090,104 Y36C probably damaging Het
Abcc4 T C 14: 118,629,622 R228G probably damaging Het
Acap2 A T 16: 31,108,114 S528T probably benign Het
Adamts6 T A 13: 104,314,279 D323E possibly damaging Het
Ano8 G T 8: 71,478,741 probably benign Het
Ano9 T G 7: 141,110,695 Q48P probably benign Het
Atp13a1 T G 8: 69,805,292 L899R probably benign Het
Card10 G A 15: 78,780,514 R747W probably damaging Het
Csn1s1 T C 5: 87,680,961 *295R probably null Het
Dhx9 A G 1: 153,468,926 I505T probably damaging Het
Dnajc17 A T 2: 119,186,385 S37T probably benign Het
Dot1l T A 10: 80,783,988 probably null Het
Dph7 A G 2: 24,963,500 N109S possibly damaging Het
Ednra C T 8: 77,720,302 G49D probably benign Het
Fam83g T C 11: 61,701,728 M259T probably damaging Het
Fer1l4 A T 2: 156,020,544 D1736E probably damaging Het
Fetub T C 16: 22,935,679 I212T probably damaging Het
Foxc2 C A 8: 121,117,700 S362R probably benign Het
Gm8444 A G 15: 81,843,533 probably benign Het
Gpank1 G A 17: 35,124,269 E242K probably benign Het
Hps4 G A 5: 112,375,030 probably benign Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ighv1-20 A T 12: 114,724,199 W3R probably damaging Het
Kcnq1 T C 7: 143,184,442 I209T probably damaging Het
Me3 A T 7: 89,806,726 E262V probably damaging Het
Mei1 G A 15: 82,124,863 R1233Q possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mrgprx3-ps T C 7: 47,309,826 noncoding transcript Het
Olfr1281 A T 2: 111,328,815 Y132F probably damaging Het
Olfr160 A T 9: 37,712,068 D70E probably damaging Het
Olfr478 C A 7: 108,031,544 K266N probably benign Het
Ostm1 T C 10: 42,698,234 F153L probably damaging Het
Pkd1l3 C T 8: 109,624,119 T532I possibly damaging Het
Prpf40a G A 2: 53,146,172 H624Y probably damaging Het
Rtn2 T C 7: 19,287,324 S210P probably benign Het
Siglec1 T C 2: 131,085,814 Q24R probably benign Het
Smurf1 T C 5: 144,896,775 probably benign Het
Ssr1 G A 13: 37,985,290 L225F possibly damaging Het
Tlr6 A G 5: 64,953,638 I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 98,867,129 probably null Het
Tnrc18 T C 5: 142,743,650 K1674R unknown Het
Tns1 T A 1: 73,928,098 Y1115F probably damaging Het
Trim56 T A 5: 137,113,687 E325V probably damaging Het
Ttn T C 2: 76,775,974 T18164A possibly damaging Het
Ugt2a3 A T 5: 87,327,689 D361E probably damaging Het
Vmn2r125 T C 4: 156,350,087 I56T probably benign Het
Xkr5 T A 8: 18,934,167 H453L probably benign Het
Zfp82 C T 7: 30,056,367 R430H probably damaging Het
Zscan22 T C 7: 12,906,324 V6A probably benign Het
Other mutations in Zcchc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Zcchc7 APN 4 44931318 missense possibly damaging 0.76
IGL00542:Zcchc7 APN 4 44931462 missense probably benign 0.00
IGL01309:Zcchc7 APN 4 44926060 missense probably damaging 1.00
IGL01753:Zcchc7 APN 4 44929217 missense probably benign 0.30
IGL02186:Zcchc7 APN 4 44762250 missense possibly damaging 0.95
IGL02395:Zcchc7 APN 4 44761868 utr 5 prime probably benign
IGL02423:Zcchc7 APN 4 44931244 missense possibly damaging 0.81
IGL03350:Zcchc7 APN 4 44931188 missense probably benign 0.13
R0371:Zcchc7 UTSW 4 44762190 missense probably damaging 1.00
R1449:Zcchc7 UTSW 4 44929124 missense possibly damaging 0.66
R2061:Zcchc7 UTSW 4 44895838 missense probably damaging 1.00
R2096:Zcchc7 UTSW 4 44931059 missense probably damaging 0.98
R4668:Zcchc7 UTSW 4 44895964 missense probably damaging 1.00
R4989:Zcchc7 UTSW 4 44931039 missense probably damaging 1.00
R5340:Zcchc7 UTSW 4 44762245 missense probably benign 0.04
R5397:Zcchc7 UTSW 4 44926048 missense probably damaging 0.96
R5700:Zcchc7 UTSW 4 44931084 missense probably benign 0.00
R5891:Zcchc7 UTSW 4 44895838 missense probably damaging 1.00
R5950:Zcchc7 UTSW 4 44931244 missense possibly damaging 0.81
R5977:Zcchc7 UTSW 4 44894982 missense possibly damaging 0.77
R6005:Zcchc7 UTSW 4 44931218 frame shift probably null
R6405:Zcchc7 UTSW 4 44926032 missense probably damaging 1.00
R7787:Zcchc7 UTSW 4 44895043 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCCCAAGAAAATACAGGAGGTG -3'
(R):5'- TCCCAGCGTCTCATTAACAGG -3'

Sequencing Primer
(F):5'- TGGCCTCGAGAAAATAAAGAAACAC -3'
(R):5'- AGGTACTTAAGCACTTCCAGG -3'
Posted On2015-06-24