Mutagenetix > Incidental Mutation

Incidental Mutation 'R3747:Dazap1'

309882

Institutional Source

Beutler Lab

Gene Symbol

Dazap1

Ensembl Gene

ENSMUSG00000069565

Gene Name

DAZ associated protein 1

Synonyms

2410042M16Rik, mPrrp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.473) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80097320-80124242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80123498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 391 (R391C)

Ref Sequence

ENSEMBL: ENSMUSP00000101001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062674] [ENSMUST00000068408] [ENSMUST00000092305] [ENSMUST00000105361] [ENSMUST00000105362]

AlphaFold

Q9JII5

Predicted Effect

probably benign
Transcript: ENSMUST00000062674

SMART Domains

Protein: ENSMUSP00000100997
Gene: ENSMUSG00000063457

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19	20	101	5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068408

SMART Domains

Protein: ENSMUSP00000069004
Gene: ENSMUSG00000063457

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:Ribosomal_S19	47	128	1.6e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092305
AA Change: R392C

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: R392C

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

unknown
Transcript: ENSMUST00000105361
AA Change: R392C

SMART Domains

Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: R392C

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

possibly damaging
Transcript: ENSMUST00000105362
AA Change: R391C

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: R391C

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: ENSMUST00000151619

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abhd18	A	G	3: 40,888,008 (GRCm39)	N284S	probably benign	Het
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Aga	T	A	8: 53,970,856 (GRCm39)	I192N	probably benign	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Alk	A	G	17: 72,218,560 (GRCm39)	S762P	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cby3	T	C	11: 50,250,501 (GRCm39)	*236R	probably null	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,378,881 (GRCm39)	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Dgkh	T	A	14: 78,821,885 (GRCm39)	E876V	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Fam43a	C	T	16: 30,420,664 (GRCm39)	T416I	probably benign	Het
Fam90a1a	C	A	8: 22,453,221 (GRCm39)	S192*	probably null	Het
Foxd1	G	C	13: 98,492,424 (GRCm39)	A433P	unknown	Het
Garin4	T	G	1: 190,896,207 (GRCm39)	Q145H	probably damaging	Het
Gm10152	G	A	7: 144,316,937 (GRCm39)		probably null	Het
Hipk3	T	A	2: 104,271,628 (GRCm39)	R435*	probably null	Het
Hnrnpab	T	A	11: 51,493,473 (GRCm39)	Y245F	probably benign	Het
Islr2	A	T	9: 58,106,925 (GRCm39)	S112T	probably benign	Het
Itgb7	A	T	15: 102,131,212 (GRCm39)	V280D	probably damaging	Het
Kndc1	G	A	7: 139,507,817 (GRCm39)		probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nbeal1	A	G	1: 60,234,182 (GRCm39)	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,253,561 (GRCm39)	P939L	probably benign	Het
Ndst3	A	G	3: 123,465,201 (GRCm39)	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcm1	T	C	8: 41,785,041 (GRCm39)	I2064T	probably benign	Het
Pkd1	A	G	17: 24,810,435 (GRCm39)	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Ppil4	A	T	10: 7,690,457 (GRCm39)	Q370L	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,318,966 (GRCm39)	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,136,994 (GRCm39)	S191T	possibly damaging	Het
Sned1	T	A	1: 93,189,473 (GRCm39)	F303Y	probably damaging	Het
Sp9	T	A	2: 73,104,652 (GRCm39)	M402K	probably damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,871 (GRCm39)	Y226H	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Yipf4	G	A	17: 74,803,667 (GRCm39)		probably null	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	Het

Other mutations in Dazap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03151:Dazap1	APN	10	80,116,754 (GRCm39)	splice site	probably benign
R0058:Dazap1	UTSW	10	80,097,415 (GRCm39)	splice site	probably benign
R0058:Dazap1	UTSW	10	80,097,415 (GRCm39)	splice site	probably benign
R0131:Dazap1	UTSW	10	80,114,060 (GRCm39)	splice site	probably null
R0132:Dazap1	UTSW	10	80,114,060 (GRCm39)	splice site	probably null
R0938:Dazap1	UTSW	10	80,116,795 (GRCm39)	missense	possibly damaging	0.82
R1976:Dazap1	UTSW	10	80,110,454 (GRCm39)	splice site	probably null
R2233:Dazap1	UTSW	10	80,113,433 (GRCm39)	missense	possibly damaging	0.69
R2234:Dazap1	UTSW	10	80,113,433 (GRCm39)	missense	possibly damaging	0.69
R2326:Dazap1	UTSW	10	80,120,067 (GRCm39)	missense	possibly damaging	0.90
R3619:Dazap1	UTSW	10	80,121,194 (GRCm39)	unclassified	probably benign
R6009:Dazap1	UTSW	10	80,121,138 (GRCm39)	unclassified	probably benign
R6324:Dazap1	UTSW	10	80,113,494 (GRCm39)	missense	probably benign	0.17
R6484:Dazap1	UTSW	10	80,113,481 (GRCm39)	missense	probably benign	0.11
R9628:Dazap1	UTSW	10	80,118,999 (GRCm39)	missense	unknown
R9758:Dazap1	UTSW	10	80,113,440 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGTCCCATGACCCTGAAC -3'
(R):5'- TTTAAACCCTGTTGTTGAACCAGTG -3'

Sequencing Primer
(F):5'- ATGACCCTGAACTAAGCAGCTTTTC -3'
(R):5'- ATTTAAAACCTCAGTCCAGATGCGG -3'

Posted On

2015-04-17