Incidental Mutation 'IGL01339:Zcchc2'
ID 74775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc2
Ensembl Gene ENSMUSG00000038866
Gene Name zinc finger, CCHC domain containing 2
Synonyms 9930114B20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL01339
Quality Score
Status
Chromosome 1
Chromosomal Location 105918136-105961804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105957505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 659 (S659P)
Ref Sequence ENSEMBL: ENSMUSP00000113128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166]
AlphaFold Q69ZB8
Predicted Effect probably damaging
Transcript: ENSMUST00000118196
AA Change: S659P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: S659P

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
low complexity region 34 67 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
low complexity region 234 247 N/A INTRINSIC
SCOP:d1gd5a_ 347 451 5e-7 SMART
low complexity region 480 491 N/A INTRINSIC
low complexity region 567 581 N/A INTRINSIC
low complexity region 624 634 N/A INTRINSIC
low complexity region 640 659 N/A INTRINSIC
low complexity region 777 795 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
low complexity region 998 1010 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
ZnF_C2HC 1120 1136 1.12e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119166
AA Change: S659P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: S659P

DomainStartEndE-ValueType
low complexity region 7 27 N/A INTRINSIC
low complexity region 34 67 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
low complexity region 234 247 N/A INTRINSIC
SCOP:d1gd5a_ 347 451 5e-7 SMART
low complexity region 480 491 N/A INTRINSIC
low complexity region 567 581 N/A INTRINSIC
low complexity region 624 634 N/A INTRINSIC
low complexity region 640 659 N/A INTRINSIC
low complexity region 777 795 N/A INTRINSIC
low complexity region 899 918 N/A INTRINSIC
low complexity region 998 1010 N/A INTRINSIC
low complexity region 1020 1031 N/A INTRINSIC
ZnF_C2HC 1120 1136 1.12e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000186983
AA Change: S261P
Predicted Effect probably benign
Transcript: ENSMUST00000188954
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,180,338 (GRCm39) T2565A probably damaging Het
C8a A C 4: 104,685,182 (GRCm39) F354V probably benign Het
Cadps C T 14: 12,486,543 (GRCm38) V876M possibly damaging Het
Chmp7 A T 14: 69,956,855 (GRCm39) I351N probably damaging Het
Clec7a A T 6: 129,442,449 (GRCm39) W193R probably damaging Het
Clint1 T C 11: 45,799,846 (GRCm39) V535A probably benign Het
Clu A G 14: 66,213,037 (GRCm39) E141G probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cntn2 A T 1: 132,446,643 (GRCm39) probably null Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cyp2d10 C T 15: 82,288,042 (GRCm39) A195T probably benign Het
Dnah10 G T 5: 124,854,276 (GRCm39) K1901N probably damaging Het
Dnai3 T C 3: 145,748,591 (GRCm39) Y841C probably benign Het
Dop1a G A 9: 86,433,730 (GRCm39) D2329N possibly damaging Het
Eipr1 A G 12: 28,914,770 (GRCm39) E308G probably damaging Het
Exoc4 T C 6: 33,282,335 (GRCm39) probably benign Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbn2 T C 18: 58,246,442 (GRCm39) T487A possibly damaging Het
Fbxo40 T C 16: 36,790,816 (GRCm39) E98G probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gls C T 1: 52,227,867 (GRCm39) D217N probably damaging Het
Gm6994 A G 14: 77,718,618 (GRCm39) probably benign Het
Gpr149 A T 3: 62,511,718 (GRCm39) W94R probably damaging Het
Gpr158 A G 2: 21,373,842 (GRCm39) D259G possibly damaging Het
Hcn2 T C 10: 79,564,902 (GRCm39) L438P probably damaging Het
Hgd A C 16: 37,452,092 (GRCm39) T374P possibly damaging Het
Ints3 A G 3: 90,322,463 (GRCm39) probably null Het
Kctd5 A T 17: 24,276,749 (GRCm39) V172E probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lrrc37a A G 11: 103,388,763 (GRCm39) S2221P unknown Het
Ltk T A 2: 119,583,455 (GRCm39) D310V probably damaging Het
Luzp1 T A 4: 136,270,087 (GRCm39) M770K probably damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Mzb1 T A 18: 35,781,399 (GRCm39) H71L probably benign Het
Necap2 G A 4: 140,802,276 (GRCm39) T63I probably benign Het
Nefl A G 14: 68,323,931 (GRCm39) probably benign Het
Odam G A 5: 88,033,755 (GRCm39) probably null Het
Pcdh18 A G 3: 49,710,247 (GRCm39) I356T probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Pde2a T C 7: 101,156,366 (GRCm39) S593P probably benign Het
Rapgef3 A T 15: 97,655,940 (GRCm39) L359M probably damaging Het
Rb1 T C 14: 73,501,811 (GRCm39) probably null Het
Rbm44 A G 1: 91,096,686 (GRCm39) I976V probably benign Het
Rdh13 A T 7: 4,430,623 (GRCm39) S278R probably damaging Het
Rgma A G 7: 73,067,231 (GRCm39) E256G probably damaging Het
Rnf112 A T 11: 61,341,303 (GRCm39) D402E probably benign Het
Rnps1 T A 17: 24,641,273 (GRCm39) D224E probably damaging Het
Scn10a C T 9: 119,451,832 (GRCm39) V1364M probably damaging Het
Scn1a C T 2: 66,156,304 (GRCm39) R535H probably benign Het
Scn8a A T 15: 100,930,082 (GRCm39) D1431V probably benign Het
Setdb1 A T 3: 95,245,891 (GRCm39) L677* probably null Het
Slc17a8 T A 10: 89,427,106 (GRCm39) I148F probably damaging Het
Slx4ip T A 2: 136,885,975 (GRCm39) C98* probably null Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Tcof1 T C 18: 60,951,167 (GRCm39) probably benign Het
Tdrd3 G A 14: 87,718,230 (GRCm39) V210I possibly damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tmod4 G A 3: 95,035,608 (GRCm39) R252H probably benign Het
Tti1 G T 2: 157,851,050 (GRCm39) P63Q possibly damaging Het
Tuft1 A T 3: 94,535,594 (GRCm39) D109E probably damaging Het
Other mutations in Zcchc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zcchc2 APN 1 105,957,993 (GRCm39) missense probably benign 0.25
IGL01981:Zcchc2 APN 1 105,955,229 (GRCm39) missense probably damaging 1.00
IGL02172:Zcchc2 APN 1 105,928,664 (GRCm39) missense probably benign 0.00
IGL02864:Zcchc2 APN 1 105,943,814 (GRCm39) missense probably damaging 1.00
IGL02993:Zcchc2 APN 1 105,957,898 (GRCm39) missense probably damaging 0.99
IGL03163:Zcchc2 APN 1 105,958,841 (GRCm39) missense probably damaging 1.00
P0042:Zcchc2 UTSW 1 105,958,727 (GRCm39) missense possibly damaging 0.95
R0200:Zcchc2 UTSW 1 105,931,853 (GRCm39) missense probably damaging 1.00
R0477:Zcchc2 UTSW 1 105,958,000 (GRCm39) missense possibly damaging 0.91
R0501:Zcchc2 UTSW 1 105,943,821 (GRCm39) missense possibly damaging 0.88
R0689:Zcchc2 UTSW 1 105,958,234 (GRCm39) nonsense probably null
R1799:Zcchc2 UTSW 1 105,958,017 (GRCm39) missense probably benign 0.00
R2016:Zcchc2 UTSW 1 105,931,851 (GRCm39) splice site probably null
R2153:Zcchc2 UTSW 1 105,949,453 (GRCm39) splice site probably null
R2175:Zcchc2 UTSW 1 105,955,153 (GRCm39) missense probably damaging 1.00
R2999:Zcchc2 UTSW 1 105,957,754 (GRCm39) missense probably benign 0.00
R3113:Zcchc2 UTSW 1 105,918,752 (GRCm39) missense unknown
R4571:Zcchc2 UTSW 1 105,958,987 (GRCm39) missense possibly damaging 0.66
R4670:Zcchc2 UTSW 1 105,917,996 (GRCm39) unclassified probably benign
R5067:Zcchc2 UTSW 1 105,958,694 (GRCm39) missense probably damaging 1.00
R5423:Zcchc2 UTSW 1 105,958,430 (GRCm39) missense probably damaging 1.00
R5499:Zcchc2 UTSW 1 105,958,322 (GRCm39) missense possibly damaging 0.71
R5522:Zcchc2 UTSW 1 105,951,426 (GRCm39) missense probably benign 0.00
R5526:Zcchc2 UTSW 1 105,957,984 (GRCm39) nonsense probably null
R5571:Zcchc2 UTSW 1 105,951,402 (GRCm39) missense probably benign
R5599:Zcchc2 UTSW 1 105,959,880 (GRCm39) missense probably damaging 1.00
R6133:Zcchc2 UTSW 1 105,947,609 (GRCm39) missense probably damaging 1.00
R6191:Zcchc2 UTSW 1 105,917,900 (GRCm39) unclassified probably benign
R6194:Zcchc2 UTSW 1 105,918,847 (GRCm39) missense probably damaging 1.00
R6246:Zcchc2 UTSW 1 105,957,796 (GRCm39) missense possibly damaging 0.75
R7089:Zcchc2 UTSW 1 105,958,211 (GRCm39) missense probably damaging 1.00
R7626:Zcchc2 UTSW 1 105,928,742 (GRCm39) missense possibly damaging 0.69
R7749:Zcchc2 UTSW 1 105,946,003 (GRCm39) missense probably damaging 1.00
R7781:Zcchc2 UTSW 1 105,931,895 (GRCm39) missense probably damaging 1.00
R7792:Zcchc2 UTSW 1 105,945,982 (GRCm39) missense probably damaging 0.99
R7982:Zcchc2 UTSW 1 105,958,901 (GRCm39) missense probably damaging 1.00
R8316:Zcchc2 UTSW 1 105,959,844 (GRCm39) missense probably damaging 1.00
R8351:Zcchc2 UTSW 1 105,958,662 (GRCm39) missense probably damaging 0.98
R8451:Zcchc2 UTSW 1 105,958,662 (GRCm39) missense probably damaging 0.98
R8697:Zcchc2 UTSW 1 105,958,494 (GRCm39) missense probably damaging 0.98
R8862:Zcchc2 UTSW 1 105,958,998 (GRCm39) makesense probably null
R9133:Zcchc2 UTSW 1 105,958,535 (GRCm39) missense probably damaging 1.00
R9421:Zcchc2 UTSW 1 105,950,987 (GRCm39) missense probably benign
RF022:Zcchc2 UTSW 1 105,939,472 (GRCm39) missense possibly damaging 0.85
Z1176:Zcchc2 UTSW 1 105,918,856 (GRCm39) missense probably damaging 1.00
Z1177:Zcchc2 UTSW 1 105,957,555 (GRCm39) missense probably damaging 0.98
Z1177:Zcchc2 UTSW 1 105,931,866 (GRCm39) missense possibly damaging 0.74
Posted On 2013-10-07