Incidental Mutation 'R2096:Zcchc7'
ID 232092
Institutional Source Beutler Lab
Gene Symbol Zcchc7
Ensembl Gene ENSMUSG00000035649
Gene Name zinc finger, CCHC domain containing 7
Synonyms 4930572I07Rik, D4Wsu132e
MMRRC Submission 040100-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R2096 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44756556-44932215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44931059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 404 (P404T)
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 damaging
Transcript: ENSMUST00000107824
AA Change: P404T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: P404T

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 damaging
Transcript: ENSMUST00000147272
AA Change: P83T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: P83T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,709,195 (GRCm39) S120P probably benign Het
Actr3b T A 5: 26,036,743 (GRCm39) Y185* probably null Het
Atg101 T A 15: 101,188,382 (GRCm39) H162Q possibly damaging Het
Btf3 T A 13: 98,449,659 (GRCm39) Q109L possibly damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Capn7 T G 14: 31,071,844 (GRCm39) probably null Het
Cd209f A G 8: 4,155,537 (GRCm39) V17A probably benign Het
Cenpf A G 1: 189,385,656 (GRCm39) V2208A possibly damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Comp T C 8: 70,828,713 (GRCm39) C182R probably damaging Het
Ctsl A G 13: 64,516,840 (GRCm39) probably null Het
Cyp3a44 G T 5: 145,725,215 (GRCm39) Q329K probably damaging Het
Dcpp1 A T 17: 24,099,971 (GRCm39) probably null Het
Dhx38 A G 8: 110,280,891 (GRCm39) V831A probably damaging Het
Dkk2 T C 3: 131,791,858 (GRCm39) M22T probably benign Het
Dnah2 C T 11: 69,346,742 (GRCm39) E2615K probably damaging Het
Dpy19l3 A G 7: 35,426,713 (GRCm39) probably null Het
Gm12888 T G 4: 121,176,655 (GRCm39) I49L probably benign Het
Insyn2b C A 11: 34,352,936 (GRCm39) S326Y probably benign Het
Kif15 T A 9: 122,815,252 (GRCm39) M194K probably damaging Het
Mael G T 1: 166,053,244 (GRCm39) Q254K probably benign Het
Nek9 T C 12: 85,361,322 (GRCm39) D461G probably benign Het
Nlrp12 T C 7: 3,281,825 (GRCm39) N819S probably benign Het
Ntng1 T A 3: 109,739,871 (GRCm39) N390Y probably damaging Het
Or5g25 A G 2: 85,478,434 (GRCm39) I77T probably benign Het
P2ry14 C T 3: 59,022,738 (GRCm39) V250I probably damaging Het
Pcnx2 A T 8: 126,485,987 (GRCm39) D1870E probably benign Het
Phf2 T A 13: 48,985,589 (GRCm39) K64* probably null Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ppa2 A G 3: 133,032,445 (GRCm39) T97A probably damaging Het
Psd G A 19: 46,313,088 (GRCm39) probably null Het
Psg23 T A 7: 18,348,668 (GRCm39) E46D probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rab11b A G 17: 33,967,976 (GRCm39) Y74H probably damaging Het
Rfc3 A T 5: 151,568,383 (GRCm39) S194R probably benign Het
Sema4d A T 13: 51,864,037 (GRCm39) I414N probably damaging Het
Serpinb1a A T 13: 33,031,437 (GRCm39) D120E probably damaging Het
Snai2 T A 16: 14,524,861 (GRCm39) H122Q possibly damaging Het
Spats2l T C 1: 57,985,458 (GRCm39) S504P probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Sspo G T 6: 48,438,608 (GRCm39) V1559L probably benign Het
Tas2r118 T G 6: 23,969,912 (GRCm39) I50L possibly damaging Het
Tdrd3 C T 14: 87,743,788 (GRCm39) Q573* probably null Het
Thoc2l T C 5: 104,667,835 (GRCm39) S786P possibly damaging Het
Tlnrd1 G A 7: 83,532,062 (GRCm39) T123I probably benign Het
Tmem214 T A 5: 31,033,714 (GRCm39) L555H probably damaging Het
Tmprss12 T A 15: 100,183,117 (GRCm39) M153K probably benign Het
Tmprss9 G A 10: 80,725,268 (GRCm39) G410S probably damaging Het
Trpm6 T A 19: 18,803,116 (GRCm39) M853K probably damaging Het
Vmn1r35 A G 6: 66,655,929 (GRCm39) I247T possibly damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign 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
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
R5700:Zcchc7 UTSW 4 44,931,084 (GRCm39) missense probably benign 0.00
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'- AAGTCTTCATCCTCACCCCGAG -3'

Sequencing Primer
(F):5'- AGACATCCCTGCTGCTCTGG -3'
(R):5'- AGGCTGGTGACCCCTCC -3'
Posted On 2014-09-18