Incidental Mutation 'R3149:Dzip1'
ID 264370
Institutional Source Beutler Lab
Gene Symbol Dzip1
Ensembl Gene ENSMUSG00000042156
Gene Name DAZ interacting protein 1
Synonyms 2510025K24Rik, 2810422M04Rik
MMRRC Submission 040601-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R3149 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 119112932-119162872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119148780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 300 (T300A)
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: T300A

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: T300A

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: T300A

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: T300A

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: ENSMUST00000226960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228157
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G A 17: 57,183,348 (GRCm39) A30T probably benign Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Cel T C 2: 28,446,143 (GRCm39) D576G probably benign Het
Csf2ra C A 19: 61,215,758 (GRCm39) A16S possibly damaging Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dus1l T C 11: 120,683,930 (GRCm39) T173A possibly damaging Het
Ggta1 A T 2: 35,292,635 (GRCm39) I224N probably damaging Het
Gm5150 A G 3: 16,060,479 (GRCm39) L3P probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7137 T C 10: 77,623,839 (GRCm39) probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hoxa13 G T 6: 52,237,284 (GRCm39) probably benign Het
Ift46 A G 9: 44,695,045 (GRCm39) D65G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mapk11 T C 15: 89,029,653 (GRCm39) probably null Het
Mettl25 T C 10: 105,662,214 (GRCm39) D252G probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Pecam1 A G 11: 106,575,107 (GRCm39) V601A possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rassf9 A T 10: 102,380,687 (GRCm39) D21V possibly damaging Het
Rmnd5a T A 6: 71,406,085 (GRCm39) I68L probably benign Het
Rock2 T C 12: 17,015,092 (GRCm39) S762P probably damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Srgap2 T C 1: 131,220,327 (GRCm39) T216A probably benign Het
Tasor2 G A 13: 3,624,359 (GRCm39) P1182S probably damaging Het
Vmn1r86 T A 7: 12,836,358 (GRCm39) K123* probably null Het
Vmn2r68 A C 7: 84,886,875 (GRCm39) V13G probably benign Het
Vps13d G C 4: 144,853,147 (GRCm39) N2322K possibly damaging Het
Xpo5 A G 17: 46,553,173 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly 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
R4111:Dzip1 UTSW 14 119,114,645 (GRCm39) nonsense probably null
R4349:Dzip1 UTSW 14 119,120,938 (GRCm39) missense probably benign 0.00
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'- AAAACAGTCTCGCTCACCTG -3'
(R):5'- ACAGATTTGGGGTGAAGCTATG -3'

Sequencing Primer
(F):5'- AGTCTCGCTCACCTGCTCTAC -3'
(R):5'- GCACATGTGTTATATCCAGAGCC -3'
Posted On 2015-02-05