Incidental Mutation 'IGL02537:Dzip1'
ID297575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dzip1
Ensembl Gene ENSMUSG00000042156
Gene NameDAZ interacting protein 1
Synonyms2510025K24Rik, 2810422M04Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #IGL02537
Quality Score
Status
Chromosome14
Chromosomal Location118875520-118925460 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 118909576 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004055] [ENSMUST00000047208]
Predicted Effect probably benign
Transcript: ENSMUST00000004055
SMART Domains Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156

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
SMART Domains Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
Alx3 T A 3: 107,604,859 M271K possibly damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
B230217C12Rik T C 11: 97,842,185 S111P possibly damaging Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Prpf31 G T 7: 3,638,751 G356C probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 S14P possibly damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Uba1 G A X: 20,678,663 R693H possibly damaging Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in Dzip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Dzip1 APN 14 118883394 missense probably benign 0.41
IGL01534:Dzip1 APN 14 118877239 missense probably damaging 1.00
IGL01617:Dzip1 APN 14 118881065 missense probably benign 0.16
IGL02801:Dzip1 APN 14 118885655 nonsense probably null
IGL03354:Dzip1 APN 14 118912569 splice site probably benign
BB003:Dzip1 UTSW 14 118883499 missense probably benign 0.00
BB013:Dzip1 UTSW 14 118883499 missense probably benign 0.00
PIT4151001:Dzip1 UTSW 14 118922788 missense probably damaging 1.00
R0325:Dzip1 UTSW 14 118909557 missense probably damaging 0.99
R0357:Dzip1 UTSW 14 118909538 missense probably damaging 0.99
R0592:Dzip1 UTSW 14 118902139 missense probably damaging 1.00
R0942:Dzip1 UTSW 14 118887197 nonsense probably null
R1110:Dzip1 UTSW 14 118889305 missense probably benign 0.15
R1458:Dzip1 UTSW 14 118922713 missense probably benign 0.16
R1541:Dzip1 UTSW 14 118879478 missense probably damaging 1.00
R2046:Dzip1 UTSW 14 118922478 missense probably damaging 1.00
R2178:Dzip1 UTSW 14 118889404 splice site probably null
R2316:Dzip1 UTSW 14 118901540 missense probably benign 0.01
R2504:Dzip1 UTSW 14 118881044 missense probably benign 0.11
R2851:Dzip1 UTSW 14 118922445 missense possibly damaging 0.71
R2852:Dzip1 UTSW 14 118922445 missense possibly damaging 0.71
R3149:Dzip1 UTSW 14 118911368 missense probably benign 0.38
R4111:Dzip1 UTSW 14 118877233 nonsense probably null
R4349:Dzip1 UTSW 14 118883526 missense probably benign 0.00
R4350:Dzip1 UTSW 14 118883526 missense probably benign 0.00
R4351:Dzip1 UTSW 14 118883526 missense probably benign 0.00
R4352:Dzip1 UTSW 14 118883526 missense probably benign 0.00
R4868:Dzip1 UTSW 14 118877214 missense probably damaging 1.00
R5172:Dzip1 UTSW 14 118887151 missense probably damaging 0.97
R5191:Dzip1 UTSW 14 118911393 missense probably damaging 1.00
R5192:Dzip1 UTSW 14 118911393 missense probably damaging 1.00
R5376:Dzip1 UTSW 14 118911393 missense probably damaging 1.00
R5378:Dzip1 UTSW 14 118911393 missense probably damaging 1.00
R5655:Dzip1 UTSW 14 118887232 critical splice acceptor site probably null
R5816:Dzip1 UTSW 14 118909480 missense probably benign 0.00
R7256:Dzip1 UTSW 14 118885646 missense probably benign 0.00
R7768:Dzip1 UTSW 14 118879498 missense probably benign 0.11
R7788:Dzip1 UTSW 14 118883393 missense probably benign 0.00
R7926:Dzip1 UTSW 14 118883499 missense probably benign 0.00
X0009:Dzip1 UTSW 14 118877214 missense probably damaging 0.98
X0026:Dzip1 UTSW 14 118922457 missense probably damaging 1.00
Z1177:Dzip1 UTSW 14 118911376 missense probably damaging 1.00
Posted On2015-04-16