Incidental Mutation 'R5700:Zcchc7'
ID 450833
Institutional Source Beutler Lab
Gene Symbol Zcchc7
Ensembl Gene ENSMUSG00000035649
Gene Name zinc finger, CCHC domain containing 7
Synonyms 4930572I07Rik, D4Wsu132e
MMRRC Submission 043328-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R5700 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 44756556-44932215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44931084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 412 (V412A)
Ref Sequence ENSEMBL: ENSMUSP00000103454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107824] [ENSMUST00000147272]
AlphaFold B1AX39
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107823
Predicted Effect probably benign
Transcript: ENSMUST00000107824
AA Change: V412A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: V412A

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
ZnF_C2HC 237 253 4.13e-3 SMART
ZnF_C2HC 259 275 1.51e0 SMART
ZnF_C2HC 300 316 1.08e0 SMART
low complexity region 324 336 N/A INTRINSIC
ZnF_C2HC 344 360 9.16e-2 SMART
low complexity region 497 517 N/A INTRINSIC
low complexity region 530 538 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126968
SMART Domains Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649

DomainStartEndE-ValueType
ZnF_C2HC 14 30 9.16e-2 SMART
low complexity region 52 68 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147272
AA Change: V91A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: V91A

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
ZnF_C2HC 23 39 9.16e-2 SMART
low complexity region 176 196 N/A INTRINSIC
low complexity region 209 217 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,786,633 (GRCm39) Q155L probably benign Het
Acadvl A C 11: 69,904,029 (GRCm39) Y242D probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Barx2 A T 9: 31,770,061 (GRCm39) F156I probably damaging Het
Best1 T C 19: 9,974,563 (GRCm39) probably benign Het
Btbd8 T C 5: 107,651,514 (GRCm39) S136P possibly damaging Het
Btla T A 16: 45,070,936 (GRCm39) Y298* probably null Het
Casr T A 16: 36,329,979 (GRCm39) I452F probably damaging Het
Ccser1 C A 6: 61,288,260 (GRCm39) P141H probably benign Het
Cr2 A G 1: 194,842,065 (GRCm39) V296A probably damaging Het
Csl T A 10: 99,594,877 (GRCm39) I63F probably damaging Het
Dbt G A 3: 116,313,952 (GRCm39) V40M probably damaging Het
Fam53b A T 7: 132,361,749 (GRCm39) L93Q probably damaging Het
Fdps T C 3: 89,002,956 (GRCm39) I105V probably damaging Het
Gm4884 A G 7: 40,692,643 (GRCm39) D204G probably benign Het
Gm5592 A G 7: 40,808,003 (GRCm39) probably benign Het
Gm7367 A T 7: 59,805,510 (GRCm39) noncoding transcript Het
Grid2 T A 6: 64,071,416 (GRCm39) V413D possibly damaging Het
Hgf C T 5: 16,815,122 (GRCm39) P471L probably damaging Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Hs6st3 C T 14: 119,376,199 (GRCm39) R125* probably null Het
Kdm4b T C 17: 56,658,700 (GRCm39) I15T possibly damaging Het
Klhl1 T C 14: 96,755,476 (GRCm39) N93S probably benign Het
Klhl6 G A 16: 19,775,968 (GRCm39) Q197* probably null Het
Medag T C 5: 149,345,682 (GRCm39) V7A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Nckap5 C T 1: 125,904,662 (GRCm39) probably null Het
Obscn T C 11: 59,024,020 (GRCm39) K550R probably benign Het
Or2d36 A G 7: 106,746,748 (GRCm39) N75S probably benign Het
Or2w1b T A 13: 21,300,171 (GRCm39) V103E probably damaging Het
Or5h25 T A 16: 58,930,356 (GRCm39) I206F probably damaging Het
Or7a42 T C 10: 78,791,318 (GRCm39) I93T probably damaging Het
Parp6 T C 9: 59,532,010 (GRCm39) S101P probably damaging Het
Plcd3 T C 11: 102,964,589 (GRCm39) N594S probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ppp2r1b T C 9: 50,789,457 (GRCm39) Y443H probably damaging Het
Prnd G A 2: 131,795,263 (GRCm39) V128I probably benign Het
Rftn1 G T 17: 50,309,697 (GRCm39) P156Q probably damaging Het
Scmh1 T C 4: 120,374,143 (GRCm39) V445A probably benign Het
Serpinb6c A T 13: 34,083,291 (GRCm39) M41K probably damaging Het
Slc66a1 C T 4: 139,027,565 (GRCm39) S259N probably damaging Het
Spns1 A G 7: 125,971,641 (GRCm39) V303A possibly damaging Het
Ston1 T A 17: 88,951,767 (GRCm39) S639R probably damaging Het
Thbs4 T C 13: 92,913,461 (GRCm39) D153G probably benign Het
Timm44 T C 8: 4,324,171 (GRCm39) Y36C probably damaging Het
Trim34b G T 7: 103,985,618 (GRCm39) V418F probably damaging Het
Vmn1r72 C T 7: 11,404,350 (GRCm39) V33M probably damaging Het
Zfand1 T A 3: 10,406,079 (GRCm39) N210I probably damaging Het
Zfhx3 A G 8: 109,660,499 (GRCm39) H1251R probably damaging Het
Other mutations in Zcchc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Zcchc7 APN 4 44,931,318 (GRCm39) missense possibly damaging 0.76
IGL00542:Zcchc7 APN 4 44,931,462 (GRCm39) missense probably benign 0.00
IGL01309:Zcchc7 APN 4 44,926,060 (GRCm39) missense probably damaging 1.00
IGL01753:Zcchc7 APN 4 44,929,217 (GRCm39) missense probably benign 0.30
IGL02186:Zcchc7 APN 4 44,762,250 (GRCm39) missense possibly damaging 0.95
IGL02395:Zcchc7 APN 4 44,761,868 (GRCm39) utr 5 prime probably benign
IGL02423:Zcchc7 APN 4 44,931,244 (GRCm39) missense possibly damaging 0.81
IGL03350:Zcchc7 APN 4 44,931,188 (GRCm39) missense probably benign 0.13
R0371:Zcchc7 UTSW 4 44,762,190 (GRCm39) missense probably damaging 1.00
R1449:Zcchc7 UTSW 4 44,929,124 (GRCm39) missense possibly damaging 0.66
R2061:Zcchc7 UTSW 4 44,895,838 (GRCm39) missense probably damaging 1.00
R2096:Zcchc7 UTSW 4 44,931,059 (GRCm39) missense probably damaging 0.98
R4274:Zcchc7 UTSW 4 44,931,335 (GRCm39) missense possibly damaging 0.87
R4668:Zcchc7 UTSW 4 44,895,964 (GRCm39) missense probably damaging 1.00
R4989:Zcchc7 UTSW 4 44,931,039 (GRCm39) missense probably damaging 1.00
R5340:Zcchc7 UTSW 4 44,762,245 (GRCm39) missense probably benign 0.04
R5397:Zcchc7 UTSW 4 44,926,048 (GRCm39) missense probably damaging 0.96
R5891:Zcchc7 UTSW 4 44,895,838 (GRCm39) missense probably damaging 1.00
R5950:Zcchc7 UTSW 4 44,931,244 (GRCm39) missense possibly damaging 0.81
R5977:Zcchc7 UTSW 4 44,894,982 (GRCm39) missense possibly damaging 0.77
R6005:Zcchc7 UTSW 4 44,931,218 (GRCm39) frame shift probably null
R6405:Zcchc7 UTSW 4 44,926,032 (GRCm39) missense probably damaging 1.00
R7787:Zcchc7 UTSW 4 44,895,043 (GRCm39) critical splice donor site probably null
R8178:Zcchc7 UTSW 4 44,931,398 (GRCm39) missense probably benign 0.00
R9674:Zcchc7 UTSW 4 44,931,418 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TAGGTCAGACATCCCTGCTG -3'
(R):5'- GGAAGTCTTCATCCTCACCC -3'

Sequencing Primer
(F):5'- GAATGTGTCCCCATTTTTAGCAG -3'
(R):5'- TCACCCCGAGGCTGGTG -3'
Posted On 2017-01-03