Incidental Mutation 'IGL03163:Zcchc2'
ID 411521
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 # IGL03163
Quality Score
Status
Chromosome 1
Chromosomal Location 105918136-105961804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105958841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1104 (V1104A)
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: V1104A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: V1104A

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: V1104A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: V1104A

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: V706A
Predicted Effect probably benign
Transcript: ENSMUST00000188954
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,228,191 (GRCm39) D393V probably benign Het
Amz2 C A 11: 109,319,751 (GRCm39) Q46K probably benign Het
Ankhd1 G A 18: 36,780,681 (GRCm39) R1911H probably damaging Het
Apba3 A G 10: 81,105,057 (GRCm39) probably null Het
Atxn1l T C 8: 110,459,017 (GRCm39) N415S probably damaging Het
Clu C T 14: 66,217,235 (GRCm39) S356F probably benign Het
Cluh T C 11: 74,556,894 (GRCm39) V1029A probably benign Het
Creb3 C T 4: 43,566,315 (GRCm39) L274F probably damaging Het
Dcaf8 T C 1: 172,000,475 (GRCm39) V211A probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fam131c T C 4: 141,110,069 (GRCm39) F156L probably damaging Het
Fbxw21 T A 9: 108,974,552 (GRCm39) I323F probably benign Het
Fmo9 A G 1: 166,502,019 (GRCm39) V202A possibly damaging Het
Gipr C T 7: 18,896,481 (GRCm39) W205* probably null Het
Gm13941 A T 2: 110,928,761 (GRCm39) I99K unknown Het
Gpr22 A T 12: 31,759,171 (GRCm39) V317E possibly damaging Het
Hace1 T C 10: 45,548,701 (GRCm39) I582T probably damaging Het
Iho1 G T 9: 108,282,132 (GRCm39) L519I probably benign Het
Khdrbs1 T C 4: 129,619,508 (GRCm39) E211G probably benign Het
Lonrf1 T C 8: 36,697,484 (GRCm39) D500G probably benign Het
Lrp2 A C 2: 69,331,870 (GRCm39) Y1628* probably null Het
Lrrc40 T C 3: 157,747,224 (GRCm39) I112T possibly damaging Het
Matr3 G A 18: 35,705,644 (GRCm39) D190N probably damaging Het
Or8c16 T C 9: 38,130,710 (GRCm39) V194A probably benign Het
Ptpn13 A T 5: 103,739,212 (GRCm39) D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 (GRCm39) D557G probably damaging Het
Rangap1 A T 15: 81,600,801 (GRCm39) N194K probably damaging Het
Rasgef1c T C 11: 49,862,200 (GRCm39) V363A possibly damaging Het
Ric8b A G 10: 84,837,686 (GRCm39) N498D probably damaging Het
Scn1a A C 2: 66,148,418 (GRCm39) D22E probably benign Het
Spc25 T G 2: 69,027,548 (GRCm39) I115L probably damaging Het
Sspo A G 6: 48,461,266 (GRCm39) H3569R probably benign Het
Stra6l T C 4: 45,881,455 (GRCm39) I439T probably benign Het
Trappc12 G T 12: 28,796,653 (GRCm39) P293Q probably damaging Het
Trcg1 T C 9: 57,155,630 (GRCm39) L761P possibly damaging Het
Usp15 A C 10: 123,007,049 (GRCm39) M144R probably damaging Het
Vmn2r11 T C 5: 109,201,692 (GRCm39) I271V probably benign Het
Zftraf1 A T 15: 76,543,474 (GRCm39) L13Q probably damaging Het
Other mutations in Zcchc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Zcchc2 APN 1 105,957,993 (GRCm39) missense probably benign 0.25
IGL01339:Zcchc2 APN 1 105,957,505 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02