Incidental Mutation 'R0071:Zxdc'
ID 43844
Institutional Source Beutler Lab
Gene Symbol Zxdc
Ensembl Gene ENSMUSG00000034430
Gene Name ZXD family zinc finger C
Synonyms B930086F11Rik
MMRRC Submission 038362-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0071 (G1)
Quality Score 82
Status Validated
Chromosome 6
Chromosomal Location 90346474-90380472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 90347398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 253 (V253G)
Ref Sequence ENSEMBL: ENSMUSP00000109167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045740] [ENSMUST00000075117] [ENSMUST00000113539]
AlphaFold Q8C8V1
Predicted Effect probably damaging
Transcript: ENSMUST00000045740
AA Change: V253G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: V253G

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 probably damaging
Transcript: ENSMUST00000075117
AA Change: V253G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: V253G

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: V253G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: V253G

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: ENSMUST00000137483
Predicted Effect probably benign
Transcript: ENSMUST00000203493
Meta Mutation Damage Score 0.3102 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.2%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,812,746 (GRCm39) probably benign Het
Acot12 T C 13: 91,929,293 (GRCm39) probably benign Het
Acrbp T C 6: 125,027,915 (GRCm39) probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Aox3 T A 1: 58,211,050 (GRCm39) C931* probably null Het
Apob T A 12: 8,052,111 (GRCm39) V1184E probably damaging Het
Arhgap44 A T 11: 64,902,721 (GRCm39) L582Q possibly damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Bccip A G 7: 133,315,960 (GRCm39) D72G probably damaging Het
Bckdha A T 7: 25,329,868 (GRCm39) probably null Het
Bmerb1 A G 16: 13,906,818 (GRCm39) D11G probably damaging Het
Cald1 C T 6: 34,735,069 (GRCm39) probably benign Het
Cby2 A G 14: 75,821,621 (GRCm39) S44P probably benign Het
Cdk11b T C 4: 155,733,880 (GRCm39) probably benign Het
Cebpe G T 14: 54,948,061 (GRCm39) R261S probably damaging Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chi3l1 T C 1: 134,113,017 (GRCm39) Y150H probably benign Het
Chrnd T C 1: 87,120,559 (GRCm39) probably benign Het
Clec4g T A 8: 3,767,489 (GRCm39) probably benign Het
Cog2 T C 8: 125,275,407 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,391 (GRCm39) L93Q probably damaging Het
Csmd3 T C 15: 47,460,217 (GRCm39) T3525A probably benign Het
Ctsc G A 7: 87,957,357 (GRCm39) probably benign Het
Dnajc16 T C 4: 141,495,318 (GRCm39) T467A probably benign Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Fam227b T A 2: 125,965,994 (GRCm39) N144Y probably benign Het
Fam83h A G 15: 75,874,377 (GRCm39) S987P probably benign Het
Fhod1 A T 8: 106,063,857 (GRCm39) probably null Het
Folr1 A G 7: 101,513,130 (GRCm39) probably null Het
Glis3 C T 19: 28,241,255 (GRCm39) probably benign Het
Gm10069 T C 6: 128,449,688 (GRCm39) noncoding transcript Het
Golgb1 G A 16: 36,735,865 (GRCm39) R1704Q probably benign Het
Gpr158 C A 2: 21,815,479 (GRCm39) T624K probably benign Het
Helz2 T C 2: 180,878,200 (GRCm39) Y866C probably damaging Het
Itpkb T A 1: 180,160,330 (GRCm39) V152E probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Klhl32 A G 4: 24,743,907 (GRCm39) V88A probably damaging Het
Lct C T 1: 128,219,755 (GRCm39) W1631* probably null Het
Lipa T A 19: 34,472,482 (GRCm39) K313M probably damaging Het
Ly75 T C 2: 60,152,163 (GRCm39) K1130R probably benign Het
Mamdc2 C A 19: 23,280,994 (GRCm39) E685* probably null Het
Mdm1 A G 10: 117,982,701 (GRCm39) E112G probably damaging Het
Metrnl A T 11: 121,606,826 (GRCm39) M212L probably benign Het
Mettl2 A G 11: 105,022,468 (GRCm39) probably benign Het
Mxd3 A T 13: 55,477,449 (GRCm39) L11Q probably damaging Het
Myo7a A T 7: 97,706,037 (GRCm39) Y1836N probably damaging Het
Nsun7 A G 5: 66,421,388 (GRCm39) Y118C probably benign Het
Obscn G A 11: 58,955,027 (GRCm39) T3962M possibly damaging Het
Or13a20 A T 7: 140,232,170 (GRCm39) I93F probably benign Het
Or2d36 A G 7: 106,746,919 (GRCm39) Y132C probably damaging Het
Or5k3 C A 16: 58,969,578 (GRCm39) R122S probably benign Het
Osbpl11 T C 16: 33,034,708 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,131 (GRCm39) D276V probably damaging Het
Pik3cb A T 9: 98,926,918 (GRCm39) D886E probably benign Het
Pkhd1 T A 1: 20,271,568 (GRCm39) Y2995F probably benign Het
Raver2 C T 4: 100,977,642 (GRCm39) probably benign Het
Rhbdf1 A G 11: 32,160,498 (GRCm39) L684P probably damaging Het
Rufy2 C A 10: 62,824,946 (GRCm39) L75M possibly damaging Het
Sec22c A G 9: 121,521,979 (GRCm39) F44L probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina1a T C 12: 103,822,002 (GRCm39) K310R probably benign Het
Shoc1 A G 4: 59,059,643 (GRCm39) Y1006H possibly damaging Het
Sobp A G 10: 43,033,993 (GRCm39) L111P probably damaging Het
Sparcl1 G T 5: 104,233,707 (GRCm39) Y547* probably null Het
Spata31d1b G A 13: 59,863,163 (GRCm39) A104T probably benign Het
Spsb3 A G 17: 25,106,878 (GRCm39) D184G probably damaging Het
Sptan1 A T 2: 29,893,354 (GRCm39) K1148* probably null Het
Tdrd12 A G 7: 35,228,671 (GRCm39) V17A possibly damaging Het
Tlr9 A G 9: 106,100,777 (GRCm39) T23A probably benign Het
Tra2b A T 16: 22,073,151 (GRCm39) probably benign Het
Tspan15 A G 10: 62,038,849 (GRCm39) probably benign Het
Ttc41 A G 10: 86,572,710 (GRCm39) N694S probably benign Het
Ttn T G 2: 76,597,813 (GRCm39) D19700A probably damaging Het
Ube3b G A 5: 114,557,558 (GRCm39) G1014D probably damaging Het
Unc5d A G 8: 29,209,854 (GRCm39) V422A possibly damaging Het
Vmn2r80 C T 10: 79,007,566 (GRCm39) T514I possibly damaging Het
Zfp595 T C 13: 67,464,917 (GRCm39) K452E possibly damaging Het
Zfp607a A G 7: 27,577,694 (GRCm39) K255E probably 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
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
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'- TCGCCAAGAAGCACCAGTTGAAG -3'
(R):5'- CAAACAAGCGACAGTTTGGCCC -3'

Sequencing Primer
(F):5'- TTGAAGGTGCACCTGCTGAC -3'
(R):5'- AATCACACTTGTAAGGCCGC -3'
Posted On 2013-05-29