Incidental Mutation 'R4349:Dzip1'
ID 328450
Institutional Source Beutler Lab
Gene Symbol Dzip1
Ensembl Gene ENSMUSG00000042156
Gene Name DAZ interacting protein 1
Synonyms 2510025K24Rik, 2810422M04Rik
MMRRC Submission 041104-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R4349 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 119112932-119162872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119120938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 673 (D673G)
Ref Sequence ENSEMBL: ENSMUSP00000039689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004055] [ENSMUST00000047208]
AlphaFold Q8BMD2
Predicted Effect probably benign
Transcript: ENSMUST00000004055
AA Change: D673G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: D673G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 43 163 3.6e-45 PFAM
ZnF_C2H2 183 206 2.09e-3 SMART
coiled coil region 214 249 N/A INTRINSIC
coiled coil region 276 303 N/A INTRINSIC
coiled coil region 385 427 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
low complexity region 481 496 N/A INTRINSIC
low complexity region 661 673 N/A INTRINSIC
low complexity region 781 795 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047208
AA Change: D673G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: D673G

DomainStartEndE-ValueType
Pfam:Dzip-like_N 43 163 3.7e-46 PFAM
ZnF_C2H2 183 206 2.09e-3 SMART
coiled coil region 214 249 N/A INTRINSIC
coiled coil region 276 303 N/A INTRINSIC
coiled coil region 385 427 N/A INTRINSIC
low complexity region 451 463 N/A INTRINSIC
low complexity region 481 496 N/A INTRINSIC
low complexity region 661 673 N/A INTRINSIC
low complexity region 781 795 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228861
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: This gene encodes a zinc finger protein that has been demonstrated to interact with the deleted in azoospermia (DAZ) protein. DAZ plays an important role early in germ cell development to maintain the initial germ cell population. Deletion of this gene in mice compromises Hedgehog signaling during embryogenesis. Mouse embryos lacking the encoded protein show severe developmental defects with dorsalized neural tubes and underdeveloped somites. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on chromosome 5. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a targeted allele lacking exons 2 and 3 exhibit partial embryonic lethality around E9.5, decreased embryo size, underdevelopment of the neural tube and somite and lack of primary cilia on MEFs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 G T 1: 155,562,827 (GRCm39) R276L probably benign Het
Bahcc1 G A 11: 120,150,027 (GRCm39) R103Q probably damaging Het
Cd101 G A 3: 100,920,630 (GRCm39) T423M possibly damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Cntn3 T C 6: 102,176,312 (GRCm39) E801G probably damaging Het
Enam T C 5: 88,651,407 (GRCm39) L972P probably damaging Het
Espl1 C A 15: 102,228,039 (GRCm39) T1630N probably benign Het
Fra10ac1 A G 19: 38,188,053 (GRCm39) S248P probably benign Het
Grik1 T C 16: 87,754,431 (GRCm39) R385G probably damaging Het
Gtpbp8 T A 16: 44,566,560 (GRCm39) probably null Het
Kif23 C T 9: 61,839,396 (GRCm39) V284M probably damaging Het
Klhdc7a A G 4: 139,693,588 (GRCm39) V453A possibly damaging Het
Klhl35 G A 7: 99,122,926 (GRCm39) V517M probably benign Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Marchf7 T C 2: 60,064,539 (GRCm39) S272P probably benign Het
Milr1 T C 11: 106,654,708 (GRCm39) S84P possibly damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Or12j5 A T 7: 140,084,270 (GRCm39) L34* probably null Het
Otog A T 7: 45,923,613 (GRCm39) Q1082L probably damaging Het
Pacsin1 G A 17: 27,925,978 (GRCm39) V107I possibly damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Pigv T C 4: 133,392,127 (GRCm39) T348A probably benign Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rbm25 A G 12: 83,721,947 (GRCm39) D711G probably damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Sec24a G T 11: 51,605,976 (GRCm39) Q692K probably benign Het
Sidt2 C T 9: 45,857,011 (GRCm39) D205N possibly damaging Het
Skint10 T C 4: 112,626,968 (GRCm39) *113W probably null Het
Tet3 T C 6: 83,380,257 (GRCm39) E637G probably benign Het
Vmn2r94 T A 17: 18,464,605 (GRCm39) I562F probably benign Het
Zfp593 T C 4: 133,972,367 (GRCm39) T78A probably benign Het
Zfp605 T A 5: 110,276,552 (GRCm39) C557S probably damaging Het
Other mutations in Dzip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dzip1 APN 14 119,120,806 (GRCm39) missense probably benign 0.41
IGL01534:Dzip1 APN 14 119,114,651 (GRCm39) missense probably damaging 1.00
IGL01617:Dzip1 APN 14 119,118,477 (GRCm39) missense probably benign 0.16
IGL02537:Dzip1 APN 14 119,146,988 (GRCm39) splice site probably benign
IGL02801:Dzip1 APN 14 119,123,067 (GRCm39) nonsense probably null
IGL03354:Dzip1 APN 14 119,149,981 (GRCm39) splice site probably benign
BB003:Dzip1 UTSW 14 119,120,911 (GRCm39) missense probably benign 0.00
BB013:Dzip1 UTSW 14 119,120,911 (GRCm39) missense probably benign 0.00
PIT4151001:Dzip1 UTSW 14 119,160,200 (GRCm39) missense probably damaging 1.00
R0325:Dzip1 UTSW 14 119,146,969 (GRCm39) missense probably damaging 0.99
R0357:Dzip1 UTSW 14 119,146,950 (GRCm39) missense probably damaging 0.99
R0592:Dzip1 UTSW 14 119,139,551 (GRCm39) missense probably damaging 1.00
R0942:Dzip1 UTSW 14 119,124,609 (GRCm39) nonsense probably null
R1110:Dzip1 UTSW 14 119,126,717 (GRCm39) missense probably benign 0.15
R1458:Dzip1 UTSW 14 119,160,125 (GRCm39) missense probably benign 0.16
R1541:Dzip1 UTSW 14 119,116,890 (GRCm39) missense probably damaging 1.00
R2046:Dzip1 UTSW 14 119,159,890 (GRCm39) missense probably damaging 1.00
R2178:Dzip1 UTSW 14 119,126,816 (GRCm39) splice site probably null
R2316:Dzip1 UTSW 14 119,138,952 (GRCm39) missense probably benign 0.01
R2504:Dzip1 UTSW 14 119,118,456 (GRCm39) missense probably benign 0.11
R2851:Dzip1 UTSW 14 119,159,857 (GRCm39) missense possibly damaging 0.71
R2852:Dzip1 UTSW 14 119,159,857 (GRCm39) missense possibly damaging 0.71
R3149:Dzip1 UTSW 14 119,148,780 (GRCm39) missense probably benign 0.38
R4111:Dzip1 UTSW 14 119,114,645 (GRCm39) nonsense probably null
R4350:Dzip1 UTSW 14 119,120,938 (GRCm39) missense probably benign 0.00
R4351:Dzip1 UTSW 14 119,120,938 (GRCm39) missense probably benign 0.00
R4352:Dzip1 UTSW 14 119,120,938 (GRCm39) missense probably benign 0.00
R4868:Dzip1 UTSW 14 119,114,626 (GRCm39) missense probably damaging 1.00
R5172:Dzip1 UTSW 14 119,124,563 (GRCm39) missense probably damaging 0.97
R5191:Dzip1 UTSW 14 119,148,805 (GRCm39) missense probably damaging 1.00
R5192:Dzip1 UTSW 14 119,148,805 (GRCm39) missense probably damaging 1.00
R5376:Dzip1 UTSW 14 119,148,805 (GRCm39) missense probably damaging 1.00
R5378:Dzip1 UTSW 14 119,148,805 (GRCm39) missense probably damaging 1.00
R5655:Dzip1 UTSW 14 119,124,644 (GRCm39) critical splice acceptor site probably null
R5816:Dzip1 UTSW 14 119,146,892 (GRCm39) missense probably benign 0.00
R7256:Dzip1 UTSW 14 119,123,058 (GRCm39) missense probably benign 0.00
R7768:Dzip1 UTSW 14 119,116,910 (GRCm39) missense probably benign 0.11
R7788:Dzip1 UTSW 14 119,120,805 (GRCm39) missense probably benign 0.00
R7926:Dzip1 UTSW 14 119,120,911 (GRCm39) missense probably benign 0.00
R8477:Dzip1 UTSW 14 119,138,958 (GRCm39) missense possibly damaging 0.80
R8816:Dzip1 UTSW 14 119,159,785 (GRCm39) missense probably benign
R8933:Dzip1 UTSW 14 119,144,326 (GRCm39) missense probably damaging 0.98
R9233:Dzip1 UTSW 14 119,124,635 (GRCm39) missense probably benign
R9458:Dzip1 UTSW 14 119,148,785 (GRCm39) missense probably damaging 0.96
R9781:Dzip1 UTSW 14 119,148,834 (GRCm39) missense probably benign 0.35
X0009:Dzip1 UTSW 14 119,114,626 (GRCm39) missense probably damaging 0.98
X0026:Dzip1 UTSW 14 119,159,869 (GRCm39) missense probably damaging 1.00
Z1177:Dzip1 UTSW 14 119,148,788 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCACCTGTCAGCTTAGGAG -3'
(R):5'- CAGGATGCGTGCTACTGAAAG -3'

Sequencing Primer
(F):5'- GAGAGAAGTCCGAGTCATCCATTTC -3'
(R):5'- CCTAGGACTGCGAGCTGAG -3'
Posted On 2015-07-07