Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:Dzip1'

222015

Institutional Source

Beutler Lab

Gene Symbol

Dzip1

Ensembl Gene

ENSMUSG00000042156

Gene Name

DAZ interacting protein 1

Synonyms

2510025K24Rik, 2810422M04Rik

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

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

Stock #

R2046 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

119112932-119162872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119159890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 106 (I106N)

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: I106N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: I106N

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: I106N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: I106N

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: ENSMUST00000226919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228157

Meta Mutation Damage Score

0.3300

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,553 (GRCm39)	D84V	probably damaging	Het
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Clec4n	T	A	6: 123,223,463 (GRCm39)	N153K	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604 (GRCm39)	C484R	probably damaging	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Myo5b	A	T	18: 74,710,526 (GRCm39)	I47F	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Nrm	G	A	17: 36,175,109 (GRCm39)	V146I	probably benign	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	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
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
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'- GGACAGCATCTTCTTCCTGC -3'
(R):5'- AAGCACGTCTACTACCCTCTGG -3'

Sequencing Primer
(F):5'- GACAGCATCTTCTTCCTGCGTTTAC -3'
(R):5'- TGACGCCTCTGCCATAGG -3'

Posted On

2014-08-25