Incidental Mutation 'R7175:Zxdc'
ID 558544
Institutional Source Beutler Lab
Gene Symbol Zxdc
Ensembl Gene ENSMUSG00000034430
Gene Name ZXD family zinc finger C
Synonyms B930086F11Rik
MMRRC Submission 045231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7175 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90346474-90380472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90346645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2 (D2G)
Ref Sequence ENSEMBL: ENSMUSP00000074619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045740] [ENSMUST00000075117] [ENSMUST00000113539]
AlphaFold Q8C8V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045740
AA Change: D2G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: D2G

DomainStartEndE-ValueType
low complexity region 22 73 N/A INTRINSIC
low complexity region 105 115 N/A INTRINSIC
low complexity region 134 152 N/A INTRINSIC
ZnF_C2H2 176 200 4.79e-3 SMART
ZnF_C2H2 209 233 4.3e-5 SMART
ZnF_C2H2 239 263 4.3e-5 SMART
ZnF_C2H2 269 291 1.69e-3 SMART
ZnF_C2H2 298 322 1.82e-3 SMART
ZnF_C2H2 329 353 1.26e-2 SMART
ZnF_C2H2 359 383 1.36e-2 SMART
ZnF_C2H2 389 413 5.21e-4 SMART
ZnF_C2H2 419 443 4.72e-2 SMART
ZnF_C2H2 452 477 3.07e-1 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 635 651 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000075117
AA Change: D2G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: D2G

DomainStartEndE-ValueType
low complexity region 22 73 N/A INTRINSIC
low complexity region 105 115 N/A INTRINSIC
low complexity region 134 152 N/A INTRINSIC
ZnF_C2H2 176 200 4.79e-3 SMART
ZnF_C2H2 209 233 4.3e-5 SMART
ZnF_C2H2 239 263 4.3e-5 SMART
ZnF_C2H2 269 291 1.69e-3 SMART
ZnF_C2H2 298 322 1.82e-3 SMART
ZnF_C2H2 329 353 1.26e-2 SMART
ZnF_C2H2 359 383 1.36e-2 SMART
ZnF_C2H2 389 413 5.21e-4 SMART
ZnF_C2H2 419 443 4.72e-2 SMART
ZnF_C2H2 452 477 3.07e-1 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 635 651 N/A INTRINSIC
low complexity region 799 811 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113539
AA Change: D2G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: D2G

DomainStartEndE-ValueType
low complexity region 44 95 N/A INTRINSIC
low complexity region 127 137 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
ZnF_C2H2 198 222 4.79e-3 SMART
ZnF_C2H2 231 255 4.3e-5 SMART
ZnF_C2H2 261 285 4.3e-5 SMART
ZnF_C2H2 291 313 1.69e-3 SMART
ZnF_C2H2 320 344 1.82e-3 SMART
ZnF_C2H2 351 375 1.26e-2 SMART
ZnF_C2H2 381 405 1.36e-2 SMART
ZnF_C2H2 411 435 5.21e-4 SMART
ZnF_C2H2 441 465 4.72e-2 SMART
ZnF_C2H2 474 499 3.07e-1 SMART
low complexity region 509 524 N/A INTRINSIC
low complexity region 657 673 N/A INTRINSIC
Predicted Effect
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,831,611 (GRCm39) T1247I probably benign Het
Afdn T C 17: 14,108,869 (GRCm39) L1479P probably damaging Het
Alox12e T C 11: 70,210,534 (GRCm39) R363G probably damaging Het
Ank2 A T 3: 126,740,590 (GRCm39) S1765T unknown Het
Anks6 T C 4: 47,046,268 (GRCm39) probably null Het
Apob A C 12: 8,057,034 (GRCm39) I1839L probably benign Het
Bdp1 C A 13: 100,186,478 (GRCm39) R1658I probably damaging Het
Ccs T A 19: 4,883,390 (GRCm39) D136V probably damaging Het
Cd200 T C 16: 45,220,578 (GRCm39) probably null Het
Cirbp T C 10: 80,006,297 (GRCm39) S130P probably benign Het
Cpb1 A G 3: 20,317,927 (GRCm39) I199T probably benign Het
Csn3 C T 5: 88,077,586 (GRCm39) R31C probably damaging Het
Dcaf1 A T 9: 106,735,775 (GRCm39) I908F probably benign Het
Dhcr7 C T 7: 143,399,227 (GRCm39) T199I probably damaging Het
Dnah9 T A 11: 66,024,463 (GRCm39) Q277L probably benign Het
Echdc2 C A 4: 108,031,366 (GRCm39) P237T probably damaging Het
Efcab3 T C 11: 104,838,237 (GRCm39) V3625A unknown Het
Eif4g3 A G 4: 137,853,526 (GRCm39) N364S probably damaging Het
Eml6 T A 11: 29,734,231 (GRCm39) I1170L probably benign Het
Epha3 C T 16: 63,403,863 (GRCm39) R746Q probably damaging Het
Exosc5 G A 7: 25,363,794 (GRCm39) C102Y probably damaging Het
Fam91a1 A T 15: 58,302,527 (GRCm39) Y289F probably benign Het
Fbxo38 A C 18: 62,648,544 (GRCm39) F665V probably benign Het
Fcrl5 T C 3: 87,353,645 (GRCm39) V330A probably benign Het
Fer T A 17: 64,231,090 (GRCm39) D280E probably benign Het
Gpr158 A G 2: 21,373,113 (GRCm39) H16R probably benign Het
Gzmg C T 14: 56,396,979 (GRCm39) M1I probably null Het
Hectd4 C T 5: 121,411,692 (GRCm39) A456V possibly damaging Het
Hk2 T A 6: 82,711,830 (GRCm39) Q613L probably benign Het
Inhca A G 9: 103,128,988 (GRCm39) probably null Het
Itsn1 T C 16: 91,664,938 (GRCm39) F1121L unknown Het
Lztr1 G T 16: 17,340,895 (GRCm39) C557F possibly damaging Het
Mdn1 A G 4: 32,694,634 (GRCm39) Y1119C probably damaging Het
Nfkb1 A T 3: 135,319,751 (GRCm39) L248Q probably damaging Het
Or1a1 T A 11: 74,087,004 (GRCm39) L225* probably null Het
Or1p1b T C 11: 74,130,803 (GRCm39) F138L probably benign Het
Or2g7 T A 17: 38,378,370 (GRCm39) S103T probably damaging Het
Or52e19 T C 7: 102,959,054 (GRCm39) V42A probably benign Het
Otulinl A C 15: 27,658,374 (GRCm39) D165E probably damaging Het
Pate1 T G 9: 35,596,408 (GRCm39) D119A probably damaging Het
Pcdhgc4 T C 18: 37,949,424 (GRCm39) V280A possibly damaging Het
Pik3ap1 T C 19: 41,275,929 (GRCm39) D717G probably damaging Het
Prdm13 A T 4: 21,679,473 (GRCm39) L339Q unknown Het
Rasgrf1 T A 9: 89,862,802 (GRCm39) N519K probably benign Het
Rergl A G 6: 139,473,533 (GRCm39) V39A probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sema4b T A 7: 79,848,402 (GRCm39) M1K probably null Het
Slc20a1 T G 2: 129,052,662 (GRCm39) L648R probably damaging Het
Spata31h1 T A 10: 82,122,583 (GRCm39) S3476C probably damaging Het
Speg A G 1: 75,399,134 (GRCm39) T2194A probably benign Het
Spns1 T C 7: 125,972,961 (GRCm39) D215G probably damaging Het
Tle4 A T 19: 14,429,071 (GRCm39) V717E probably damaging Het
Trim50 T A 5: 135,382,151 (GRCm39) M1K probably null Het
Trpa1 A G 1: 14,963,431 (GRCm39) V597A possibly damaging Het
Usp13 C T 3: 32,971,757 (GRCm39) Q746* probably null Het
Vmn1r35 A T 6: 66,655,906 (GRCm39) W255R probably benign Het
Vps35 A T 8: 85,990,189 (GRCm39) probably null Het
Vps54 T C 11: 21,265,028 (GRCm39) probably null Het
Zfp318 T A 17: 46,697,774 (GRCm39) L210Q probably damaging Het
Zfp319 C A 8: 96,055,410 (GRCm39) K264N probably damaging Het
Zfp62 C T 11: 49,107,580 (GRCm39) S557L probably damaging Het
Zgrf1 T C 3: 127,357,239 (GRCm39) S822P probably damaging Het
Zzef1 T C 11: 72,742,727 (GRCm39) I769T possibly damaging Het
Other mutations in Zxdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Zxdc APN 6 90,350,761 (GRCm39) missense probably damaging 1.00
IGL01943:Zxdc APN 6 90,349,520 (GRCm39) intron probably benign
IGL02406:Zxdc APN 6 90,375,818 (GRCm39) missense probably benign 0.00
IGL02596:Zxdc APN 6 90,350,691 (GRCm39) critical splice acceptor site probably null
IGL02623:Zxdc APN 6 90,359,352 (GRCm39) missense probably damaging 0.99
IGL02927:Zxdc APN 6 90,349,544 (GRCm39) missense probably damaging 1.00
IGL03230:Zxdc APN 6 90,350,785 (GRCm39) missense probably damaging 1.00
PIT4378001:Zxdc UTSW 6 90,350,698 (GRCm39) missense probably damaging 1.00
R0071:Zxdc UTSW 6 90,347,398 (GRCm39) missense probably damaging 1.00
R0194:Zxdc UTSW 6 90,349,519 (GRCm39) intron probably benign
R1065:Zxdc UTSW 6 90,355,885 (GRCm39) missense probably damaging 1.00
R1377:Zxdc UTSW 6 90,355,885 (GRCm39) missense probably damaging 1.00
R1405:Zxdc UTSW 6 90,361,225 (GRCm39) missense possibly damaging 0.50
R1405:Zxdc UTSW 6 90,361,225 (GRCm39) missense possibly damaging 0.50
R1692:Zxdc UTSW 6 90,355,933 (GRCm39) nonsense probably null
R2171:Zxdc UTSW 6 90,359,461 (GRCm39) missense possibly damaging 0.53
R3952:Zxdc UTSW 6 90,347,449 (GRCm39) splice site probably null
R4400:Zxdc UTSW 6 90,346,792 (GRCm39) missense probably damaging 1.00
R4660:Zxdc UTSW 6 90,355,820 (GRCm39) missense probably damaging 0.99
R4776:Zxdc UTSW 6 90,347,500 (GRCm39) missense probably damaging 1.00
R4781:Zxdc UTSW 6 90,349,535 (GRCm39) missense probably damaging 0.98
R4843:Zxdc UTSW 6 90,359,254 (GRCm39) missense probably damaging 1.00
R5028:Zxdc UTSW 6 90,359,320 (GRCm39) missense probably benign 0.44
R5260:Zxdc UTSW 6 90,359,075 (GRCm39) missense probably damaging 1.00
R5279:Zxdc UTSW 6 90,347,419 (GRCm39) missense possibly damaging 0.86
R5324:Zxdc UTSW 6 90,350,782 (GRCm39) missense probably damaging 1.00
R5363:Zxdc UTSW 6 90,359,128 (GRCm39) missense probably damaging 0.97
R5436:Zxdc UTSW 6 90,347,542 (GRCm39) missense probably damaging 0.99
R5872:Zxdc UTSW 6 90,347,281 (GRCm39) missense probably damaging 0.99
R5940:Zxdc UTSW 6 90,347,307 (GRCm39) missense probably damaging 1.00
R6762:Zxdc UTSW 6 90,359,165 (GRCm39) missense probably benign
R7197:Zxdc UTSW 6 90,355,819 (GRCm39) missense probably damaging 0.99
R7238:Zxdc UTSW 6 90,346,642 (GRCm39) missense unknown
R7247:Zxdc UTSW 6 90,361,155 (GRCm39) missense unknown
R7917:Zxdc UTSW 6 90,358,991 (GRCm39) missense probably damaging 1.00
R7976:Zxdc UTSW 6 90,375,749 (GRCm39) missense probably benign 0.05
R8792:Zxdc UTSW 6 90,346,986 (GRCm39) missense probably benign 0.00
R8917:Zxdc UTSW 6 90,359,305 (GRCm39) missense probably benign 0.00
R9016:Zxdc UTSW 6 90,359,254 (GRCm39) missense probably damaging 1.00
R9076:Zxdc UTSW 6 90,349,821 (GRCm39) missense probably damaging 1.00
R9190:Zxdc UTSW 6 90,375,773 (GRCm39) missense probably damaging 0.96
R9216:Zxdc UTSW 6 90,359,189 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GCTTCCTCGTGACTACAGTC -3'
(R):5'- TTCCAGCAGTACCACGAAGG -3'

Sequencing Primer
(F):5'- GTGACTACAGTCCCGACAGC -3'
(R):5'- AAGGAGTCGCCGCCGTC -3'
Posted On 2019-06-26