Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Dazap1'

517260

Institutional Source

Beutler Lab

Gene Symbol

Dazap1

Ensembl Gene

ENSMUSG00000069565

Gene Name

DAZ associated protein 1

Synonyms

2410042M16Rik, mPrrp

MMRRC Submission

044616-MU

Accession Numbers

Essential gene?

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

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80097320-80124242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80113481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 126 (T126A)

Ref Sequence

ENSEMBL: ENSMUSP00000101000 (fasta)

Gene Model

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

AlphaFold

Q9JII5

Predicted Effect

unknown
Transcript: ENSMUST00000092305
AA Change: T127A

SMART Domains

Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: T127A

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: T126A

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: T126A

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: T126A

SMART Domains

Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: T126A

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: T118A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
AA Change: T118A

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

0.0781

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	probably 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
R3747:Dazap1	UTSW	10	80,123,498 (GRCm39)	missense	possibly damaging	0.94
R6009:Dazap1	UTSW	10	80,121,138 (GRCm39)	unclassified	probably benign
R6324:Dazap1	UTSW	10	80,113,494 (GRCm39)	missense	probably benign	0.17
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'- TCAGAAGCCTTATGAGCTGGAG -3'
(R):5'- ATAAACCCAGGTGTCCAGGTGG -3'

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

Posted On

2018-05-21