Mutagenetix > Incidental Mutations

Incidental Mutation 'R1559:Daam2'

170520

Institutional Source

Beutler Lab

Gene Symbol

Daam2

Ensembl Gene

ENSMUSG00000040260

Gene Name

dishevelled associated activator of morphogenesis 2

Synonyms

MMRRC Submission

039598-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1559 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

49456022-49564343 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 49496120 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057610] [ENSMUST00000224595]

Predicted Effect

probably benign
Transcript: ENSMUST00000057610

SMART Domains

Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260

Domain	Start	End	E-Value	Type
Drf_GBD	40	228	4.89e-61	SMART
Drf_FH3	231	429	1.19e-73	SMART
Blast:FH2	476	513	4e-10	BLAST
low complexity region	514	534	N/A	INTRINSIC
low complexity region	539	576	N/A	INTRINSIC
FH2	595	1085	7.36e-99	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226030

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

MGI Phenotype

PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [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
Abca13	T	A	11: 9,399,180	W3585R	probably null	Het
Babam1	G	C	8: 71,397,780	E18Q	probably damaging	Het
Bcan	G	T	3: 87,994,212	S394R	probably damaging	Het
Birc6	T	A	17: 74,692,237	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,282,094	H559Q	probably benign	Het
Cars2	G	T	8: 11,530,430		probably null	Het
Ccdc93	T	A	1: 121,461,983		probably benign	Het
Ccna2	C	A	3: 36,570,730		probably benign	Het
Cdc6	T	A	11: 98,912,211	L326I	probably damaging	Het
Cdh23	A	T	10: 60,419,699		probably benign	Het
Cenpe	T	A	3: 135,270,900	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,937	M295V	probably benign	Het
Cxcl2	A	G	5: 90,904,012	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,433,984	T370A	probably damaging	Het
Dclk3	T	C	9: 111,469,208	F607L	probably damaging	Het
Des	T	G	1: 75,360,586	S57A	probably benign	Het
Drd1	A	T	13: 54,052,945	S410T	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fanci	T	C	7: 79,433,193	L639P	probably damaging	Het
Fancm	A	G	12: 65,093,689	E395G	probably benign	Het
Gm996	G	T	2: 25,577,031	S956*	probably null	Het
Grik3	A	G	4: 125,707,997	D889G	probably benign	Het
Heyl	A	G	4: 123,241,399	S62G	probably damaging	Het
Hmox1	C	T	8: 75,099,949	P267L	probably damaging	Het
Ifi213	A	C	1: 173,567,218	S584A	probably benign	Het
Il12rb2	G	T	6: 67,356,592	F234L	probably benign	Het
Il4i1	T	A	7: 44,839,387	S233T	probably damaging	Het
Itga4	A	G	2: 79,315,688	S745G	probably benign	Het
Kalrn	T	A	16: 34,010,548	I734F	possibly damaging	Het
Klk1b16	T	C	7: 44,141,001	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,630,772	M581K	probably benign	Het
M6pr	A	T	6: 122,315,074	I122L	probably benign	Het
Magi3	T	C	3: 104,046,853		probably benign	Het
Mybpc2	T	G	7: 44,513,687	T480P	probably benign	Het
Olfr301	T	C	7: 86,412,367	S43P	probably benign	Het
Olfr346	A	G	2: 36,688,758	Y252C	probably damaging	Het
Olfr613	A	T	7: 103,552,165	I127F	possibly damaging	Het
Olfr937	T	C	9: 39,060,141	N175S	probably benign	Het
Pcx	T	A	19: 4,619,086	I704N	probably damaging	Het
Pde3a	G	T	6: 141,459,098	A350S	probably damaging	Het
Ppox	A	T	1: 171,280,006		probably benign	Het
Ppp1r32	T	C	19: 10,481,406	T87A	probably benign	Het
Prb1	T	A	6: 132,208,544	Y42F	unknown	Het
Rsph4a	T	A	10: 33,909,731	V546E	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,703,349		probably null	Het
Slc22a2	T	C	17: 12,584,411	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,098,498	D334V	probably damaging	Het
Smim19	T	C	8: 22,463,336	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,807,492	T233A	probably damaging	Het
St8sia5	G	A	18: 77,211,764		probably null	Het
Stk32a	C	A	18: 43,243,084	Q73K	probably benign	Het
Tmem129	G	T	5: 33,657,756		probably null	Het
Traf3ip3	A	T	1: 193,178,291	L441Q	probably damaging	Het
Ttn	C	T	2: 76,900,961		probably benign	Het
Unc45b	T	C	11: 82,917,846	S253P	possibly damaging	Het
Vars2	A	G	17: 35,666,258		probably benign	Het
Vmn2r51	C	T	7: 10,102,445	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 10,102,446	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,317,063	I379V	possibly damaging	Het

Other mutations in Daam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Daam2	APN	17	49490304	missense	possibly damaging	0.82
IGL02373:Daam2	APN	17	49473380	missense	probably damaging	1.00
IGL02626:Daam2	APN	17	49490254	missense	possibly damaging	0.46
IGL02793:Daam2	APN	17	49464028	missense	probably damaging	1.00
IGL02861:Daam2	APN	17	49469427	missense	probably damaging	1.00
IGL02875:Daam2	APN	17	49464028	missense	probably damaging	1.00
IGL03370:Daam2	APN	17	49486501	missense	probably benign	0.19
R0145:Daam2	UTSW	17	49480778	missense	probably benign
R0310:Daam2	UTSW	17	49463924	critical splice donor site	probably null
R0362:Daam2	UTSW	17	49480785	splice site	probably null
R0423:Daam2	UTSW	17	49469421	nonsense	probably null
R0883:Daam2	UTSW	17	49498883	utr 5 prime	probably benign
R0928:Daam2	UTSW	17	49488227	missense	probably benign	0.30
R1444:Daam2	UTSW	17	49480751	missense	possibly damaging	0.89
R1733:Daam2	UTSW	17	49490203	missense	possibly damaging	0.60
R1919:Daam2	UTSW	17	49485457	missense	probably benign	0.00
R1930:Daam2	UTSW	17	49462213	splice site	probably null
R1968:Daam2	UTSW	17	49483060	missense	probably damaging	1.00
R2520:Daam2	UTSW	17	49480757	nonsense	probably null
R3004:Daam2	UTSW	17	49460654	missense	probably damaging	0.98
R3726:Daam2	UTSW	17	49469738	missense	probably damaging	1.00
R3854:Daam2	UTSW	17	49458596	missense	probably benign
R4833:Daam2	UTSW	17	49490145	missense	possibly damaging	0.91
R4878:Daam2	UTSW	17	49460710	missense	probably damaging	1.00
R5015:Daam2	UTSW	17	49476522	missense	probably damaging	1.00
R5106:Daam2	UTSW	17	49476461	missense	probably damaging	1.00
R5184:Daam2	UTSW	17	49494391	missense	possibly damaging	0.50
R5419:Daam2	UTSW	17	49480754	missense	possibly damaging	0.95
R5529:Daam2	UTSW	17	49459057	missense	probably benign
R5974:Daam2	UTSW	17	49464473	missense	probably damaging	1.00
R5979:Daam2	UTSW	17	49459204	missense	possibly damaging	0.47
R6032:Daam2	UTSW	17	49486497	missense	probably damaging	1.00
R6032:Daam2	UTSW	17	49486497	missense	probably damaging	1.00
R6050:Daam2	UTSW	17	49486502	missense	possibly damaging	0.78
R6180:Daam2	UTSW	17	49469666	missense	probably damaging	0.99
R6225:Daam2	UTSW	17	49494439	missense	probably damaging	0.98
R6385:Daam2	UTSW	17	49463936	missense	probably damaging	1.00
R6426:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6427:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6428:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6539:Daam2	UTSW	17	49469711	missense	probably damaging	1.00
R7090:Daam2	UTSW	17	49482945	missense	probably damaging	0.99
R7108:Daam2	UTSW	17	49460674	missense	probably damaging	1.00
R7487:Daam2	UTSW	17	49486482	missense	probably benign	0.03
R7599:Daam2	UTSW	17	49480727	nonsense	probably null
R7763:Daam2	UTSW	17	49490022	missense	probably benign	0.04
R8039:Daam2	UTSW	17	49464538	missense	probably damaging	1.00
V1662:Daam2	UTSW	17	49464601	missense	possibly damaging	0.85
Z1177:Daam2	UTSW	17	49464620	missense	probably damaging	1.00
Z1177:Daam2	UTSW	17	49489016	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCGCAGGTATATTGTGTGAAATGCTA -3'
(R):5'- CGTTGGGAAGAGGAAGCTGGACT -3'

Sequencing Primer
(F):5'- acaacctcacatccctttcc -3'
(R):5'- CTCTCTGGGAGAAATATCATAGGC -3'

Posted On

2014-04-13