Mutagenetix > Incidental Mutations

Incidental Mutation 'R6324:Dazap1'

510661

Institutional Source

Beutler Lab

Gene Symbol

Dazap1

Ensembl Gene

ENSMUSG00000069565

Gene Name

DAZ associated protein 1

Synonyms

2410042M16Rik, mPrrp

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.441) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80261486-80288408 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80277660 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 130 (E130G)

Ref Sequence

ENSEMBL: ENSMUSP00000101000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092305] [ENSMUST00000105361] [ENSMUST00000105362] [ENSMUST00000156935]

Predicted Effect

unknown
Transcript: ENSMUST00000092305
AA Change: E131G

SMART Domains

Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: E131G

Domain	Start	End	E-Value	Type
RRM	11	83	1.89e-24	SMART
RRM	114	186	6.25e-25	SMART
low complexity region	238	261	N/A	INTRINSIC
low complexity region	270	332	N/A	INTRINSIC
low complexity region	363	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105361
AA Change: E130G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: E130G

Domain	Start	End	E-Value	Type
RRM	11	83	1.89e-24	SMART
RRM	113	185	6.25e-25	SMART
low complexity region	237	260	N/A	INTRINSIC
low complexity region	269	331	N/A	INTRINSIC
low complexity region	363	394	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105362
AA Change: E130G

SMART Domains

Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: E130G

Domain	Start	End	E-Value	Type
RRM	11	83	1.89e-24	SMART
RRM	113	185	6.25e-25	SMART
low complexity region	237	260	N/A	INTRINSIC
low complexity region	269	331	N/A	INTRINSIC
low complexity region	362	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150328

Predicted Effect

probably benign
Transcript: ENSMUST00000156935
AA Change: E122G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
AA Change: E122G

Domain	Start	End	E-Value	Type
RRM	3	75	1.89e-24	SMART
RRM	105	171	6.71e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184241

Meta Mutation Damage Score

0.0656

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show partial lethality during fetal growth through weaning, growth retardation, spermatogenic arrest, and premature death. Homozygotes for a hypomorphic allele live longer but are small and sterile and display small gonads, spermatogenic arrest, and abnormal pregnancy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	T	A	19: 11,163,447	M3L	probably benign	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Atp13a3	A	G	16: 30,332,285	V1069A	possibly damaging	Het
Atp1a2	C	G	1: 172,289,336	R238P	probably damaging	Het
Baz2b	A	G	2: 59,906,948	S1877P	probably damaging	Het
Ccdc114	A	G	7: 45,941,710	E203G	probably damaging	Het
Ccdc27	A	T	4: 154,036,191	S383T	probably benign	Het
Cr1l	A	G	1: 195,111,122	V377A	probably benign	Het
Dchs1	G	T	7: 105,764,938	A890E	probably benign	Het
Dock10	G	A	1: 80,505,176	T2143I	probably benign	Het
Eif3j1	A	G	2: 122,041,178	D60G	probably benign	Het
Enah	A	G	1: 181,918,571	S382P	probably damaging	Het
Fam171b	A	T	2: 83,879,264	K427*	probably null	Het
Fmn2	A	T	1: 174,612,553	I1179L	possibly damaging	Het
Focad	C	T	4: 88,401,068	R1505*	probably null	Het
Frem1	T	C	4: 82,983,337	T985A	probably benign	Het
Gm3404	A	T	5: 146,528,107	Q219L	possibly damaging	Het
Gm5592	A	C	7: 41,286,535	S154R	probably damaging	Het
Gpn3	C	T	5: 122,372,575		probably benign	Het
Gpr158	A	G	2: 21,810,554	E586G	probably damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Lin7a	T	A	10: 107,380,215		probably null	Het
Loxl4	G	A	19: 42,595,378	L745F	probably benign	Het
Mybpc1	A	G	10: 88,568,619	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,409,749	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 26,841,121	P79A	probably benign	Het
Nufip2	A	G	11: 77,691,661	T134A	probably benign	Het
Olfr1042	C	T	2: 86,159,456	V305I	probably benign	Het
Olfr1342	G	A	4: 118,690,531		probably benign	Het
Olfr1463	A	G	19: 13,235,104	M285V	possibly damaging	Het
Phkb	A	G	8: 86,018,542	D616G	probably benign	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prl7b1	A	T	13: 27,602,895		probably null	Het
Prop1	G	A	11: 50,952,199	P54S	probably benign	Het
Ptcd3	C	T	6: 71,885,327	V509I	probably benign	Het
Ptprg	T	A	14: 12,226,314	D527E	probably damaging	Het
Rapgef2	C	T	3: 79,079,132	V1182I	probably benign	Het
Rfx7	C	A	9: 72,618,414	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Slc38a9	A	G	13: 112,726,100	I444M	probably benign	Het
Sorbs1	T	C	19: 40,321,819	T492A	probably damaging	Het
Synj1	A	T	16: 90,938,630	S1478R	probably benign	Het
Tnn	T	A	1: 160,145,204	N276I	probably damaging	Het
Trbv19	G	A	6: 41,178,758	G21D	probably damaging	Het
Ube2o	A	T	11: 116,539,359	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,984,758	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,471,715	L182*	probably null	Het
Vmn2r15	A	G	5: 109,286,271	*856R	probably null	Het
Vmn2r70	G	A	7: 85,558,879	H797Y	probably benign	Het
Zfp11	C	T	5: 129,656,523	A625T	possibly damaging	Het

Other mutations in Dazap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03151:Dazap1	APN	10	80280920	splice site	probably benign
R0058:Dazap1	UTSW	10	80261581	splice site	probably benign
R0058:Dazap1	UTSW	10	80261581	splice site	probably benign
R0131:Dazap1	UTSW	10	80278226	splice site	probably null
R0132:Dazap1	UTSW	10	80278226	splice site	probably null
R0938:Dazap1	UTSW	10	80280961	missense	possibly damaging	0.82
R1976:Dazap1	UTSW	10	80274620	splice site	probably null
R2233:Dazap1	UTSW	10	80277599	missense	possibly damaging	0.69
R2234:Dazap1	UTSW	10	80277599	missense	possibly damaging	0.69
R2326:Dazap1	UTSW	10	80284233	missense	possibly damaging	0.90
R3619:Dazap1	UTSW	10	80285360	unclassified	probably benign
R3747:Dazap1	UTSW	10	80287664	missense	possibly damaging	0.94
R6009:Dazap1	UTSW	10	80285304	unclassified	probably benign
R6484:Dazap1	UTSW	10	80277647	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CAGAAGCCTTATGAGCTGGAG -3'
(R):5'- TAAACCCAGGTGTCCAGGTG -3'

Sequencing Primer
(F):5'- ATCTGGAGTTGAAGGTCAGCC -3'
(R):5'- AGGTGTCCAGGTGGCACAG -3'

Posted On

2018-04-02