Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Dzip1'

25788

Institutional Source

Beutler Lab

Gene Symbol

Dzip1

Ensembl Gene

ENSMUSG00000042156

Gene Name

DAZ interacting protein 1

Synonyms

2510025K24Rik, 2810422M04Rik

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119112932-119162872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119146969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 313 (I313M)

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: I313M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: I313M

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: I313M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: I313M

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: ENSMUST00000228142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228157

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dmrt1	G	A	19: 25,523,371 (GRCm39)	E241K	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fmn2	T	A	1: 174,437,520 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Jag1	A	G	2: 136,937,365 (GRCm39)		probably null	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Papola	T	A	12: 105,773,452 (GRCm39)	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pkp4	A	G	2: 59,148,873 (GRCm39)	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	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
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
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'- CGTTTGCTGGGAACGAACTCATTAAG -3'
(R):5'- CCTCTGACATGGACATGGGCATAC -3'

Sequencing Primer
(F):5'- atccagtgccctcctcc -3'
(R):5'- catgggcataccctggc -3'

Posted On

2013-04-16