Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Dzip1'

252234

Institutional Source

Beutler Lab

Gene Symbol

Dzip1

Ensembl Gene

ENSMUSG00000042156

Gene Name

DAZ interacting protein 1

Synonyms

2510025K24Rik, 2810422M04Rik

MMRRC Submission

040412-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118875520-118925460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118881044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 759 (T759K)

Ref Sequence

ENSEMBL: ENSMUSP00000039689 (fasta)

Gene Model

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

AlphaFold

Q8BMD2

Predicted Effect

probably benign
Transcript: ENSMUST00000004055
AA Change: T759K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000004055
Gene: ENSMUSG00000042156
AA Change: T759K

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 benign
Transcript: ENSMUST00000047208
AA Change: T759K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039689
Gene: ENSMUSG00000042156
AA Change: T759K

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: ENSMUST00000226752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228861

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,219,216	E1750K	probably damaging	Het
4933425L06Rik	A	G	13: 105,109,742	I270M	probably benign	Het
Aatk	T	C	11: 120,018,855	D28G	probably benign	Het
Abcg1	T	A	17: 31,092,395	S125T	probably damaging	Het
Actbl2	T	C	13: 111,256,183	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,061		probably null	Het
BC030867	T	C	11: 102,255,296	Y133H	possibly damaging	Het
BC051665	C	T	13: 60,782,654	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,491,156	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,721,850	R573*	probably null	Het
Cd55b	A	T	1: 130,409,875	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,413,591	V635E	probably benign	Het
Clec16a	T	C	16: 10,559,687		probably benign	Het
Clec4b1	A	G	6: 123,065,945	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,121	D19E	probably benign	Het
Cop1	A	G	1: 159,232,805	N53S	probably damaging	Het
Csad	A	T	15: 102,188,667	M1K	probably null	Het
Cyb5rl	A	G	4: 107,080,945	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,698,342	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,559,036	H433L	probably benign	Het
D7Ertd443e	T	A	7: 134,349,479		probably null	Het
Dennd1b	A	G	1: 139,170,170		probably benign	Het
Dmap1	G	T	4: 117,675,298	T357K	probably damaging	Het
Elmo2	A	G	2: 165,298,687	V300A	probably damaging	Het
Eml5	T	C	12: 98,844,105	D864G	possibly damaging	Het
Ep400	A	G	5: 110,668,645	V2670A	probably damaging	Het
Epha3	T	A	16: 63,603,625	I534F	probably damaging	Het
Epha4	A	C	1: 77,382,991	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,204,774		probably null	Het
Ero1l	A	T	14: 45,299,088		probably null	Het
Fam229a	A	G	4: 129,491,486	D70G	probably damaging	Het
Fbn2	C	T	18: 58,093,359	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,270,714		probably benign	Het
Fbxo39	T	A	11: 72,317,285	S154R	probably benign	Het
Fer	T	A	17: 63,991,580		probably null	Het
Filip1l	A	G	16: 57,570,662	I538V	possibly damaging	Het
Filip1l	A	T	16: 57,571,047	D428V	probably damaging	Het
Fsip2	T	C	2: 82,979,610	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,651,398	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083	S74P	unknown	Het
Gm4787	T	G	12: 81,379,137	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,220,620	I50T	unknown	Het
Hectd4	T	C	5: 121,263,967	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,686,867	C2313*	probably null	Het
Igfn1	A	T	1: 135,969,316	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642	D267G	probably benign	Het
Itln1	A	G	1: 171,529,159	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026	T596M	probably damaging	Het
Kcnj16	C	T	11: 111,025,583	T357M	probably benign	Het
Kif13a	G	A	13: 46,814,200	T346M	probably damaging	Het
Klhl24	G	A	16: 20,120,167	A491T	probably benign	Het
Kntc1	C	T	5: 123,778,347	Q748*	probably null	Het
Krt25	T	A	11: 99,317,296	K369*	probably null	Het
Krt75	C	T	15: 101,568,031	R433Q	probably benign	Het
Krt76	A	G	15: 101,884,858	F582L	unknown	Het
Lysmd1	G	A	3: 95,138,397	V182I	probably benign	Het
Mab21l2	T	A	3: 86,547,555	E46V	probably damaging	Het
Magi2	A	T	5: 20,358,936	K355N	probably damaging	Het
March10	T	C	11: 105,385,572	D630G	probably damaging	Het
Mast4	A	T	13: 102,738,639	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,530,218	T523I	probably benign	Het
Nexmif	T	A	X: 104,084,393	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,589,329	I918R	possibly damaging	Het
Nup50	A	T	15: 84,933,658	T93S	probably benign	Het
Nwd2	T	C	5: 63,804,374	Y434H	probably benign	Het
Olfr61	T	C	7: 140,638,484	V261A	probably benign	Het
Osbpl1a	C	A	18: 12,905,031	V288L	probably benign	Het
Pan3	A	G	5: 147,527,036	E562G	possibly damaging	Het
Pappa	T	A	4: 65,180,889	Y548*	probably null	Het
Phf3	A	T	1: 30,810,789	L1181Q	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,485,428	I240T	probably damaging	Het
Pole	G	A	5: 110,290,502		probably null	Het
Polq	T	A	16: 37,011,942	S15T	unknown	Het
Prrt2	T	C	7: 127,020,224	E23G	possibly damaging	Het
Prss37	A	T	6: 40,517,826		probably null	Het
Prune2	T	C	19: 17,000,036	L45P	probably damaging	Het
Psd	A	T	19: 46,324,913	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,089,997	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pxdn	T	A	12: 30,003,406	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rgmb	C	A	17: 15,807,647	R270L	probably benign	Het
Rpgrip1l	A	G	8: 91,280,716		probably null	Het
Rps2	G	A	17: 24,720,379		probably benign	Het
Rsbn1l	G	T	5: 20,902,366	A550E	probably damaging	Het
S1pr4	C	T	10: 81,499,304	R112H	probably benign	Het
Scfd2	T	C	5: 74,531,177	N148S	probably damaging	Het
Scin	C	T	12: 40,081,706	M276I	probably benign	Het
Sec24d	T	C	3: 123,353,606	I708T	possibly damaging	Het
Skint11	T	A	4: 114,228,812	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,617,239	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,675,806	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,377,746		probably null	Het
Slc7a14	G	T	3: 31,237,501	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,624,431	C59R	probably damaging	Het
Stab1	A	G	14: 31,163,040		probably null	Het
Stag1	G	T	9: 100,866,210	S475I	probably damaging	Het
Stxbp5l	A	G	16: 37,115,667	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628		probably null	Het
Tm9sf2	A	G	14: 122,158,684	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,852,065	W300L	probably damaging	Het
Traj32	A	G	14: 54,186,103		probably benign	Het
Trp53bp2	A	T	1: 182,441,639	M223L	probably benign	Het
Tsga10	G	A	1: 37,815,677	T246M	probably damaging	Het
Txn2	A	T	15: 77,926,670		probably benign	Het
Ubr3	T	A	2: 69,938,198	F450I	probably damaging	Het
Usp47	T	C	7: 112,104,470		probably null	Het
Vars2	C	T	17: 35,664,793	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,897,596	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,257,519	R564Q	probably benign	Het
Zfp983	T	C	17: 21,658,967	C29R	probably damaging	Het

Other mutations in Dzip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dzip1	APN	14	118883394	missense	probably benign	0.41
IGL01534:Dzip1	APN	14	118877239	missense	probably damaging	1.00
IGL01617:Dzip1	APN	14	118881065	missense	probably benign	0.16
IGL02537:Dzip1	APN	14	118909576	splice site	probably benign
IGL02801:Dzip1	APN	14	118885655	nonsense	probably null
IGL03354:Dzip1	APN	14	118912569	splice site	probably benign
BB003:Dzip1	UTSW	14	118883499	missense	probably benign	0.00
BB013:Dzip1	UTSW	14	118883499	missense	probably benign	0.00
PIT4151001:Dzip1	UTSW	14	118922788	missense	probably damaging	1.00
R0325:Dzip1	UTSW	14	118909557	missense	probably damaging	0.99
R0357:Dzip1	UTSW	14	118909538	missense	probably damaging	0.99
R0592:Dzip1	UTSW	14	118902139	missense	probably damaging	1.00
R0942:Dzip1	UTSW	14	118887197	nonsense	probably null
R1110:Dzip1	UTSW	14	118889305	missense	probably benign	0.15
R1458:Dzip1	UTSW	14	118922713	missense	probably benign	0.16
R1541:Dzip1	UTSW	14	118879478	missense	probably damaging	1.00
R2046:Dzip1	UTSW	14	118922478	missense	probably damaging	1.00
R2178:Dzip1	UTSW	14	118889404	splice site	probably null
R2316:Dzip1	UTSW	14	118901540	missense	probably benign	0.01
R2851:Dzip1	UTSW	14	118922445	missense	possibly damaging	0.71
R2852:Dzip1	UTSW	14	118922445	missense	possibly damaging	0.71
R3149:Dzip1	UTSW	14	118911368	missense	probably benign	0.38
R4111:Dzip1	UTSW	14	118877233	nonsense	probably null
R4349:Dzip1	UTSW	14	118883526	missense	probably benign	0.00
R4350:Dzip1	UTSW	14	118883526	missense	probably benign	0.00
R4351:Dzip1	UTSW	14	118883526	missense	probably benign	0.00
R4352:Dzip1	UTSW	14	118883526	missense	probably benign	0.00
R4868:Dzip1	UTSW	14	118877214	missense	probably damaging	1.00
R5172:Dzip1	UTSW	14	118887151	missense	probably damaging	0.97
R5191:Dzip1	UTSW	14	118911393	missense	probably damaging	1.00
R5192:Dzip1	UTSW	14	118911393	missense	probably damaging	1.00
R5376:Dzip1	UTSW	14	118911393	missense	probably damaging	1.00
R5378:Dzip1	UTSW	14	118911393	missense	probably damaging	1.00
R5655:Dzip1	UTSW	14	118887232	critical splice acceptor site	probably null
R5816:Dzip1	UTSW	14	118909480	missense	probably benign	0.00
R7256:Dzip1	UTSW	14	118885646	missense	probably benign	0.00
R7768:Dzip1	UTSW	14	118879498	missense	probably benign	0.11
R7788:Dzip1	UTSW	14	118883393	missense	probably benign	0.00
R7926:Dzip1	UTSW	14	118883499	missense	probably benign	0.00
R8477:Dzip1	UTSW	14	118901546	missense	possibly damaging	0.80
R8816:Dzip1	UTSW	14	118922373	missense	probably benign
R8933:Dzip1	UTSW	14	118906914	missense	probably damaging	0.98
R9233:Dzip1	UTSW	14	118887223	missense	probably benign
R9458:Dzip1	UTSW	14	118911373	missense	probably damaging	0.96
X0009:Dzip1	UTSW	14	118877214	missense	probably damaging	0.98
X0026:Dzip1	UTSW	14	118922457	missense	probably damaging	1.00
Z1177:Dzip1	UTSW	14	118911376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCTACCTACAGAACCGAACTG -3'
(R):5'- GTTGTGTGTAAAGCTGAGACTCC -3'

Sequencing Primer
(F):5'- CTACAGAACCGAACTGTGAAAAG -3'
(R):5'- TGTGTAAAGCTGAGACTCCTTTAG -3'

Posted On

2014-12-04