Incidental Mutation 'R4843:Zxdc'
ID 371985
Institutional Source Beutler Lab
Gene Symbol Zxdc
Ensembl Gene ENSMUSG00000034430
Gene Name ZXD family zinc finger C
Synonyms B930086F11Rik
MMRRC Submission 042456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R4843 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90346474-90380472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90359254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 629 (T629A)
Ref Sequence ENSEMBL: ENSMUSP00000109167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045740] [ENSMUST00000075117] [ENSMUST00000113539]
AlphaFold Q8C8V1
Predicted Effect probably benign
Transcript: ENSMUST00000045740
SMART Domains Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430

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: T629A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: T629A

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 probably damaging
Transcript: ENSMUST00000113539
AA Change: T629A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: T629A

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 noncoding transcript
Transcript: ENSMUST00000203368
Predicted Effect
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T A 12: 30,946,144 (GRCm39) K124* probably null Het
Actl11 G T 9: 107,806,691 (GRCm39) C338F possibly damaging Het
Adam5 G A 8: 25,303,552 (GRCm39) S125F probably damaging Het
Ap2s1 C A 7: 16,477,271 (GRCm39) A44D possibly damaging Het
AW554918 T C 18: 25,473,057 (GRCm39) V84A probably benign Het
Bsn G A 9: 107,984,388 (GRCm39) T3222M unknown Het
Car15 A G 16: 17,654,472 (GRCm39) Y155H possibly damaging Het
Cdca2 G T 14: 67,914,425 (GRCm39) P945T probably damaging Het
Cdh16 A G 8: 105,348,172 (GRCm39) F182L probably damaging Het
Cers6 G A 2: 68,899,003 (GRCm39) A214T probably benign Het
Ces1g A T 8: 94,057,893 (GRCm39) M136K probably damaging Het
Cnppd1 A G 1: 75,113,086 (GRCm39) V394A probably benign Het
Cyp3a59 A T 5: 146,033,071 (GRCm39) I148F possibly damaging Het
Dnah1 G A 14: 30,986,920 (GRCm39) A3624V probably damaging Het
Exoc3l4 T C 12: 111,394,487 (GRCm39) probably benign Het
Fap G T 2: 62,374,718 (GRCm39) P227Q probably damaging Het
Fbxw10 G A 11: 62,738,151 (GRCm39) R15H possibly damaging Het
Gm11011 T C 2: 169,429,240 (GRCm39) probably benign Het
Gm11146 A C 16: 77,392,144 (GRCm39) probably benign Het
Grip1 G A 10: 119,765,920 (GRCm39) R84Q probably damaging Het
Hipk2 A G 6: 38,796,192 (GRCm39) C19R possibly damaging Het
Hmgcll1 A G 9: 75,979,916 (GRCm39) D102G possibly damaging Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kank1 T G 19: 25,408,371 (GRCm39) S1283R probably damaging Het
Kcnip1 T A 11: 33,594,504 (GRCm39) H95L probably benign Het
L3mbtl3 A T 10: 26,207,777 (GRCm39) L314Q unknown Het
Marveld3 C A 8: 110,688,702 (GRCm39) R13L possibly damaging Het
Mtrf1l G T 10: 5,773,696 (GRCm39) P23Q possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p69 G A 7: 107,967,350 (GRCm39) A218T probably benign Het
Or6c1b G T 10: 129,273,316 (GRCm39) V212L probably benign Het
Paqr7 A G 4: 134,234,278 (GRCm39) Y45C probably damaging Het
Plod3 G A 5: 137,019,854 (GRCm39) W428* probably null Het
Pnisr T A 4: 21,857,400 (GRCm39) probably benign Het
Ppip5k1 C A 2: 121,157,368 (GRCm39) R1046L probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Prmt5 A T 14: 54,753,582 (GRCm39) I99N probably benign Het
Ripk2 T C 4: 16,155,073 (GRCm39) T149A probably damaging Het
Rpf2 C A 10: 40,122,998 (GRCm39) probably benign Het
Rtf1 T A 2: 119,536,017 (GRCm39) D190E possibly damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Snd1 T G 6: 28,668,642 (GRCm39) V443G probably damaging Het
Spag9 T C 11: 93,988,644 (GRCm39) F555L probably damaging Het
Srfbp1 A G 18: 52,621,749 (GRCm39) K270R probably benign Het
Tenm2 T A 11: 35,914,847 (GRCm39) N2230I probably damaging Het
Tmem106a T C 11: 101,477,021 (GRCm39) probably benign Het
Tpsg1 A T 17: 25,589,591 (GRCm39) probably benign Het
Trank1 A G 9: 111,195,146 (GRCm39) S1057G probably benign Het
Unc13d G A 11: 115,965,085 (GRCm39) T220M probably damaging Het
Vmn1r68 T C 7: 10,261,904 (GRCm39) T65A probably benign Het
Vps50 T C 6: 3,536,974 (GRCm39) probably null Het
Washc5 A G 15: 59,222,220 (GRCm39) I85T possibly damaging Het
Zfp677 C T 17: 21,612,788 (GRCm39) T2I probably benign 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
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
R7175:Zxdc UTSW 6 90,346,645 (GRCm39) missense possibly damaging 0.85
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'- TAGTGGCCCACGGTGATATG -3'
(R):5'- CTGAGCTCTGAGTCCTTCTG -3'

Sequencing Primer
(F):5'- CACGGTGATATGCCTCCAAGTTTG -3'
(R):5'- CCTCTCTGTAGAGCTGGACAG -3'
Posted On 2016-03-01