Incidental Mutation 'IGL03350:Zcchc7'
ID419667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc7
Ensembl Gene ENSMUSG00000035649
Gene Namezinc finger, CCHC domain containing 7
SynonymsD4Wsu132e, 4930572I07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #IGL03350
Quality Score
Status
Chromosome4
Chromosomal Location44755877-44932215 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44931188 bp
ZygosityHeterozygous
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]
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
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign Het
Other mutations in Zcchc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Zcchc7 APN 4 44931318 missense possibly damaging 0.76
IGL00542:Zcchc7 APN 4 44931462 missense probably benign 0.00
IGL01309:Zcchc7 APN 4 44926060 missense probably damaging 1.00
IGL01753:Zcchc7 APN 4 44929217 missense probably benign 0.30
IGL02186:Zcchc7 APN 4 44762250 missense possibly damaging 0.95
IGL02395:Zcchc7 APN 4 44761868 utr 5 prime probably benign
IGL02423:Zcchc7 APN 4 44931244 missense possibly damaging 0.81
R0371:Zcchc7 UTSW 4 44762190 missense probably damaging 1.00
R1449:Zcchc7 UTSW 4 44929124 missense possibly damaging 0.66
R2061:Zcchc7 UTSW 4 44895838 missense probably damaging 1.00
R2096:Zcchc7 UTSW 4 44931059 missense probably damaging 0.98
R4274:Zcchc7 UTSW 4 44931335 missense possibly damaging 0.87
R4668:Zcchc7 UTSW 4 44895964 missense probably damaging 1.00
R4989:Zcchc7 UTSW 4 44931039 missense probably damaging 1.00
R5340:Zcchc7 UTSW 4 44762245 missense probably benign 0.04
R5397:Zcchc7 UTSW 4 44926048 missense probably damaging 0.96
R5700:Zcchc7 UTSW 4 44931084 missense probably benign 0.00
R5891:Zcchc7 UTSW 4 44895838 missense probably damaging 1.00
R5950:Zcchc7 UTSW 4 44931244 missense possibly damaging 0.81
R5977:Zcchc7 UTSW 4 44894982 missense possibly damaging 0.77
R6005:Zcchc7 UTSW 4 44931218 frame shift probably null
R6405:Zcchc7 UTSW 4 44926032 missense probably damaging 1.00
R7787:Zcchc7 UTSW 4 44895043 critical splice donor site probably null
R8178:Zcchc7 UTSW 4 44931398 missense probably benign 0.00
Posted On2016-08-02