Incidental Mutation 'R0477:Zcchc2'
ID 41832
Institutional Source Beutler Lab
Gene Symbol Zcchc2
Ensembl Gene ENSMUSG00000038866
Gene Name zinc finger, CCHC domain containing 2
Synonyms 9930114B20Rik
MMRRC Submission 038677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R0477 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 105918136-105961804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105958000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 426 (P426S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166]
AlphaFold Q69ZB8
Predicted Effect probably benign
Transcript: ENSMUST00000118196
AA Change: P824S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: P824S

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: P824S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: P824S

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 possibly damaging
Transcript: ENSMUST00000186983
AA Change: P426S

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000188954
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A T 11: 117,693,787 (GRCm39) I85F probably benign Het
Abca8a T A 11: 109,956,051 (GRCm39) I778L probably benign Het
Abcc5 T C 16: 20,187,319 (GRCm39) N889S possibly damaging Het
Abcc5 T C 16: 20,217,635 (GRCm39) N359D probably damaging Het
Adam23 A G 1: 63,596,559 (GRCm39) probably benign Het
Adamts3 A T 5: 89,832,366 (GRCm39) D913E probably benign Het
Ap1b1 G T 11: 4,981,787 (GRCm39) C538F probably benign Het
Ash1l T A 3: 88,890,766 (GRCm39) S882T probably benign Het
C9 A T 15: 6,487,664 (GRCm39) E43D probably benign Het
Cacna2d1 T C 5: 16,399,796 (GRCm39) probably null Het
Ces2a A G 8: 105,464,169 (GRCm39) E267G probably damaging Het
Cfap61 A G 2: 145,781,836 (GRCm39) D23G probably damaging Het
Col9a3 T G 2: 180,251,263 (GRCm39) probably benign Het
Cstl1 T C 2: 148,592,908 (GRCm39) V21A probably benign Het
Cth A T 3: 157,610,812 (GRCm39) L340Q probably damaging Het
Dnah8 T A 17: 30,974,054 (GRCm39) M2813K probably damaging Het
Fam107a A T 14: 8,301,168 (GRCm38) Y21N probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Fer1l4 A G 2: 155,894,806 (GRCm39) V21A probably benign Het
Foxc2 A T 8: 121,844,774 (GRCm39) Y474F probably damaging Het
Hnf4g G T 3: 3,716,851 (GRCm39) probably benign Het
Hnrnpll T C 17: 80,369,261 (GRCm39) D54G unknown Het
Hydin A G 8: 111,145,130 (GRCm39) Y827C probably damaging Het
Il23r A G 6: 67,429,361 (GRCm39) V327A probably benign Het
Itih4 T A 14: 30,611,631 (GRCm39) V118D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lamb1 A G 12: 31,376,268 (GRCm39) D1546G possibly damaging Het
Large1 A T 8: 73,544,710 (GRCm39) D689E probably damaging Het
Map1a T C 2: 121,132,582 (GRCm39) S895P probably damaging Het
Mdn1 A C 4: 32,750,928 (GRCm39) E4487A probably benign Het
Myo15a T C 11: 60,411,740 (GRCm39) probably null Het
Nlrp4f C A 13: 65,338,720 (GRCm39) R639L probably benign Het
Or4f52 A G 2: 111,062,009 (GRCm39) F43S probably benign Het
Or8h10 T A 2: 86,808,567 (GRCm39) D191V probably damaging Het
Pcdh9 T C 14: 94,125,114 (GRCm39) N229S probably damaging Het
Pcnx2 A G 8: 126,488,306 (GRCm39) V1746A probably damaging Het
Phf12 A T 11: 77,913,896 (GRCm39) H446L possibly damaging Het
Phlpp2 A G 8: 110,622,138 (GRCm39) probably null Het
Psmb9 A C 17: 34,401,238 (GRCm39) V207G probably damaging Het
Ptprh C A 7: 4,600,997 (GRCm39) D127Y possibly damaging Het
Rabep1 T G 11: 70,811,733 (GRCm39) M535R probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scin T C 12: 40,110,515 (GRCm39) D711G probably damaging Het
Slfn4 T C 11: 83,079,507 (GRCm39) I6T probably benign Het
Sos1 T A 17: 80,742,363 (GRCm39) E388V possibly damaging Het
Spag5 A C 11: 78,205,024 (GRCm39) Q603P probably damaging Het
Supv3l1 G T 10: 62,266,364 (GRCm39) T604N probably damaging Het
Tbx5 A G 5: 120,021,184 (GRCm39) S397G possibly damaging Het
Tmprss5 A G 9: 49,026,465 (GRCm39) D383G possibly damaging Het
Trim43b A G 9: 88,972,654 (GRCm39) W167R probably damaging Het
Unc80 A T 1: 66,609,160 (GRCm39) D1283V probably damaging Het
Upf1 A T 8: 70,786,730 (GRCm39) V918D probably benign Het
Vmn2r100 A G 17: 19,742,776 (GRCm39) I383M probably benign Het
Zc3h3 G T 15: 75,648,932 (GRCm39) S733R possibly damaging Het
Zkscan7 A G 9: 122,719,874 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- AACACCTTGAGTTGTTAGCTTCCCC -3'
(R):5'- ATGGACTGATGCCTGTGCTTGC -3'

Sequencing Primer
(F):5'- GAGTTGTTAGCTTCCCCTTTACC -3'
(R):5'- AGAACTACCTTCACATTGCTCGG -3'
Posted On 2013-05-23