Incidental Mutation 'R0067:Zcchc9'
ID16413
Institutional Source Beutler Lab
Gene Symbol Zcchc9
Ensembl Gene ENSMUSG00000021621
Gene Namezinc finger, CCHC domain containing 9
Synonyms1810019C21Rik
MMRRC Submission 038358-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #R0067 (G1)
Quality Score
Status Validated
Chromosome13
Chromosomal Location91796533-91807705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91797249 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 72 (I72V)
Ref Sequence ENSEMBL: ENSMUSP00000065158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022121] [ENSMUST00000070886]
Predicted Effect probably benign
Transcript: ENSMUST00000022121
AA Change: I235V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022121
Gene: ENSMUSG00000021621
AA Change: I235V

DomainStartEndE-ValueType
low complexity region 57 65 N/A INTRINSIC
ZnF_C2HC 129 145 1.13e-2 SMART
ZnF_C2HC 156 172 6.55e-2 SMART
ZnF_C2HC 185 201 3.44e-4 SMART
ZnF_C2HC 212 228 2.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000070886
AA Change: I72V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065158
Gene: ENSMUSG00000021621
AA Change: I72V

DomainStartEndE-ValueType
ZnF_C2HC 16 32 6.55e-2 SMART
ZnF_C2HC 45 61 3.44e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179368
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 87.3%
  • 3x: 82.3%
  • 10x: 64.1%
  • 20x: 35.8%
Validation Efficiency 96% (73/76)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C T 7: 28,911,570 V248M possibly damaging Het
AW209491 A T 13: 14,637,743 I394F probably benign Het
Cacna1d A T 14: 30,075,010 probably benign Het
Cacna1i A T 15: 80,381,172 I1542F probably damaging Het
Cep97 A T 16: 55,915,561 N291K possibly damaging Het
Clasp2 A T 9: 113,860,141 probably benign Het
Dennd1c T C 17: 57,075,465 Q67R probably damaging Het
Eva1c A T 16: 90,866,417 D13V possibly damaging Het
Fam151b T C 13: 92,473,996 K95R probably benign Het
Gm13941 T C 2: 111,059,416 noncoding transcript Het
Gps2 C T 11: 69,914,781 Q42* probably null Het
Hivep1 T A 13: 42,158,656 D1457E probably benign Het
L3mbtl1 A G 2: 162,948,828 K225E probably damaging Het
Limch1 A G 5: 66,974,622 S143G probably damaging Het
Macf1 T C 4: 123,475,248 K342E possibly damaging Het
Mc5r T G 18: 68,339,566 M332R probably damaging Het
Mcf2l A G 8: 13,013,060 T882A probably benign Het
Myf6 A T 10: 107,493,479 probably null Het
Plekha5 C T 6: 140,524,903 T90I probably damaging Het
Ptbp2 T C 3: 119,720,641 T478A probably benign Het
Rasgrp1 C A 2: 117,294,820 R246S probably damaging Het
Rflnb A T 11: 76,022,161 S134T possibly damaging Het
Rnf214 A G 9: 45,867,498 probably null Het
Satb1 T C 17: 51,804,336 T165A probably damaging Het
Scamp1 T C 13: 94,204,150 Y237C probably damaging Het
Skint10 A T 4: 112,711,556 F321L probably benign Het
Skiv2l2 C T 13: 112,886,862 V727I probably benign Het
Slc8a1 A G 17: 81,437,759 V672A probably benign Het
Spats2 C A 15: 99,212,287 P522T possibly damaging Het
Stkld1 A T 2: 26,949,340 E339D probably benign Het
Tbc1d9 A G 8: 83,234,243 T241A probably damaging Het
Ticrr A T 7: 79,677,410 D622V probably damaging Het
Trmt1l T C 1: 151,448,380 V326A probably benign Het
Ube3c A G 5: 29,598,938 T180A possibly damaging Het
Unc13a A C 8: 71,634,658 F1482V probably damaging Het
Unc79 A G 12: 103,059,518 E388G probably damaging Het
Ush2a A T 1: 188,964,846 D5167V probably damaging Het
Vmn2r93 A T 17: 18,326,410 H848L probably benign Het
Zfc3h1 G T 10: 115,423,474 L1650F possibly damaging Het
Zzz3 A G 3: 152,428,403 D366G possibly damaging Het
Other mutations in Zcchc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02803:Zcchc9 APN 13 91800881 missense probably benign 0.00
IGL02975:Zcchc9 APN 13 91806053 missense possibly damaging 0.57
R0067:Zcchc9 UTSW 13 91797249 missense probably benign
R0387:Zcchc9 UTSW 13 91800947 missense probably benign 0.04
R0433:Zcchc9 UTSW 13 91805962 missense probably benign
R1752:Zcchc9 UTSW 13 91805780 missense possibly damaging 0.64
R3077:Zcchc9 UTSW 13 91805982 missense probably benign
R4721:Zcchc9 UTSW 13 91800609 critical splice donor site probably null
R5181:Zcchc9 UTSW 13 91797162 nonsense probably null
R5808:Zcchc9 UTSW 13 91800647 missense probably benign 0.03
R6146:Zcchc9 UTSW 13 91805867 nonsense probably null
R6341:Zcchc9 UTSW 13 91800697 missense possibly damaging 0.62
Posted On2013-01-20