Incidental Mutation 'R0592:Dzip1'
| ID |
56035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dzip1
|
| Ensembl Gene |
ENSMUSG00000042156 |
| Gene Name |
DAZ interacting protein 1 |
| Synonyms |
2510025K24Rik, 2810422M04Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
119112932-119162872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119139551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 381
(E381G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004055]
[ENSMUST00000047208]
|
| AlphaFold |
Q8BMD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004055
AA Change: E381G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: E381G
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000047208
AA Change: E381G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: E381G
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000228157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228540
|
| Meta Mutation Damage Score |
0.1135 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Dzip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- CAACTTCAGATGCCGGGACCTAAAC -3'
(R):5'- ACCTTTATCCTTAATCGCCGAGCAG -3'
Sequencing Primer
(F):5'- CCGGGACCTAAACCTGTG -3'
(R):5'- GTCTCATATCATAAACTCCCTGGAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation