Incidental Mutation 'R2178:Dzip1'
| ID |
237019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dzip1
|
| Ensembl Gene |
ENSMUSG00000042156 |
| Gene Name |
DAZ interacting protein 1 |
| Synonyms |
2510025K24Rik, 2810422M04Rik |
| MMRRC Submission |
040180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
R2178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
119112932-119162872 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 119126816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004055]
[ENSMUST00000047208]
|
| AlphaFold |
Q8BMD2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004055
|
| SMART Domains |
Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
| 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 null
Transcript: ENSMUST00000047208
|
| SMART Domains |
Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
| 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: ENSMUST00000228861
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
| Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
| Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
| Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,303,246 (GRCm39) |
E603G |
probably damaging |
Het |
| Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,085,196 (GRCm39) |
P515L |
probably benign |
Het |
| Kmt5b |
A |
C |
19: 3,865,372 (GRCm39) |
E789A |
possibly damaging |
Het |
| Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
| Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
| Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
| Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
| Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
| Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
| Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
| S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
| Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,404,234 (GRCm39) |
N347S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,115,941 (GRCm39) |
E313G |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
possibly damaging |
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 |
|
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 |
|
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'- CTAGTCTCTAGATCGTACAGAGTTGG -3'
(R):5'- CTGAAACCACTGAAGTTCTGGC -3'
Sequencing Primer
(F):5'- TCCTGATTTAGAGAAGGGAGCC -3'
(R):5'- GCACAGATTTAAAAGTTACAGAAGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation