Incidental Mutation 'IGL03350:Zcchc7'
ID 419667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc7
Ensembl Gene ENSMUSG00000035649
Gene Name zinc finger, CCHC domain containing 7
Synonyms 4930572I07Rik, D4Wsu132e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # IGL03350
Quality Score
Status
Chromosome 4
Chromosomal Location 44756556-44932215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44931188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 126 (T126A)
Ref Sequence ENSEMBL: ENSMUSP00000126678 (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: T447A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: T447A

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: T126A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: T126A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C 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
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
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
Posted On 2016-08-02