Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Dzip1'

376359

Institutional Source

Beutler Lab

Gene Symbol

Dzip1

Ensembl Gene

ENSMUSG00000042156

Gene Name

DAZ interacting protein 1

Synonyms

2510025K24Rik, 2810422M04Rik

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R4868 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

119112932-119162872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119114626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 843 (V843E)

Ref Sequence

ENSEMBL: ENSMUSP00000039689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004055] [ENSMUST00000047208] [ENSMUST00000047761] [ENSMUST00000071546] [ENSMUST00000100314]

AlphaFold

Q8BMD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000004055
AA Change: V843E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: V843E

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: V843E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: V843E

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

probably benign
Transcript: ENSMUST00000047761

SMART Domains

Protein: ENSMUSP00000041616
Gene: ENSMUSG00000022132

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	177	9.2e-44	PFAM
Pfam:Claudin_2	13	179	3.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071546

SMART Domains

Protein: ENSMUSP00000071476
Gene: ENSMUSG00000022132

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	3	167	9e-35	PFAM
Pfam:Claudin_2	13	160	2.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100314

SMART Domains

Protein: ENSMUSP00000097889
Gene: ENSMUSG00000022132

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	179	9.6e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228157

Meta Mutation Damage Score

0.4218

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,155,941 (GRCm39)	M541V	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,645,203 (GRCm39)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Mbtps1	C	T	8: 120,235,667 (GRCm39)	V1004I	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Sis	T	G	3: 72,850,881 (GRCm39)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,704,668 (GRCm39)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	probably 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
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
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'- TTACACAGTGGACAGCTGACAG -3'
(R):5'- CCTTCTCCCAAAGCCTGTAG -3'

Sequencing Primer
(F):5'- GCACTGTGTTACGTGTCATAAGAGAC -3'
(R):5'- CTGTAGGGGCTTGGGGGAC -3'

Posted On

2016-03-17