Incidental Mutation 'IGL00587:Zcchc2'
ID 7396
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 # IGL00587
Quality Score
Status
Chromosome 1
Chromosomal Location 105918136-105961804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105957993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 821 (S821R)
Ref Sequence ENSEMBL: ENSMUSP00000113128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166]
AlphaFold Q69ZB8
Predicted Effect probably benign
Transcript: ENSMUST00000118196
AA Change: S821R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: S821R

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 benign
Transcript: ENSMUST00000119166
AA Change: S821R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: S821R

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: S423R
Predicted Effect probably benign
Transcript: ENSMUST00000188954
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,143,327 (GRCm39) M365R possibly damaging Het
Atat1 T C 17: 36,208,775 (GRCm39) D352G probably benign Het
Bbs12 A G 3: 37,374,346 (GRCm39) T265A probably damaging Het
Cd300c A T 11: 114,850,616 (GRCm39) N62K probably benign Het
Cdk5rap3 A G 11: 96,804,225 (GRCm39) S43P probably damaging Het
Chchd6 A T 6: 89,546,399 (GRCm39) probably null Het
Cr2 C T 1: 194,836,559 (GRCm39) R868Q possibly damaging Het
Cyp2d9 T C 15: 82,339,344 (GRCm39) S126P possibly damaging Het
Dsg3 T A 18: 20,672,711 (GRCm39) I794N probably damaging Het
Fga A T 3: 82,937,596 (GRCm39) S158C possibly damaging Het
Gm14240 T C 2: 155,894,870 (GRCm39) probably null Het
Itga1 C A 13: 115,148,785 (GRCm39) V279L probably damaging Het
Kdm1b T C 13: 47,222,016 (GRCm39) V485A probably benign Het
Mfap3l T C 8: 61,124,943 (GRCm39) V395A probably benign Het
Nlrp14 T A 7: 106,780,974 (GRCm39) V57E probably benign Het
P2ry12 A T 3: 59,125,303 (GRCm39) I124K probably damaging Het
Paxip1 A G 5: 27,977,550 (GRCm39) probably benign Het
Prkdc T C 16: 15,470,222 (GRCm39) probably benign Het
Rab28 T C 5: 41,860,799 (GRCm39) R52G probably benign Het
Rrp15 T C 1: 186,453,745 (GRCm39) probably null Het
Sel1l2 G A 2: 140,085,864 (GRCm39) L539F possibly damaging Het
Ticam2 T C 18: 46,693,880 (GRCm39) E69G probably benign Het
Zcchc4 T A 5: 52,973,511 (GRCm39) S379T probably benign Het
Zfp53 T C 17: 21,728,600 (GRCm39) V211A probably benign Het
Zmym2 T G 14: 57,140,817 (GRCm39) S219A possibly damaging Het
Other mutations in Zcchc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20