Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Daam1'

500409

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

039102-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71831078-71992333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71915784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 90 (K90T)

Ref Sequence

ENSEMBL: ENSMUSP00000152564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085299] [ENSMUST00000221317] [ENSMUST00000223272]

AlphaFold

Q8BPM0

Predicted Effect

unknown
Transcript: ENSMUST00000085299
AA Change: K90T

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: K90T

Domain	Start	End	E-Value	Type
Drf_GBD	45	232	4.99e-67	SMART
Drf_FH3	235	433	1.92e-77	SMART
SCOP:d1eq1a_	442	522	4e-3	SMART
Blast:Drf_FH3	459	519	1e-9	BLAST
SCOP:d1jvr__	532	565	5e-3	SMART
FH2	600	1060	9.99e-110	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000221317
AA Change: K90T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222327

Predicted Effect

unknown
Transcript: ENSMUST00000223272
AA Change: K90T

Meta Mutation Damage Score

0.2488

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a gene trap allele show reduced fetal size, partial embryonic and neonatal lethality, altered cytoskeletal structure, cardiac defects including ventricular noncompaction, double outlet right ventricles and ventricular septal defects, and impaired cell adhesion and wound healing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,819,659	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,031,784	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cdh18	T	A	15: 23,473,995	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788		probably null	Het
Csmd2	A	T	4: 128,496,188	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529	L416P	possibly damaging	Het
Depdc5	T	A	5: 32,986,966	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577	Y40C	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	C	T	5: 31,265,355	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,312,973		probably null	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spef2	A	G	15: 9,716,396	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	Het

Other mutations in Daam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Daam1	APN	12	71942219	missense	unknown
IGL00323:Daam1	APN	12	71958743	splice site	probably benign
IGL00885:Daam1	APN	12	71944091	missense	unknown
IGL01768:Daam1	APN	12	71989885	missense	probably benign	0.39
IGL02189:Daam1	APN	12	71946285	missense	unknown
IGL02237:Daam1	APN	12	71982721	missense	probably benign	0.01
IGL02486:Daam1	APN	12	71947145	splice site	probably benign
IGL02561:Daam1	APN	12	71946516	missense	unknown
IGL02699:Daam1	APN	12	71988943	missense	probably damaging	1.00
IGL02977:Daam1	APN	12	71944172	missense	unknown
R0390:Daam1	UTSW	12	71975304	splice site	probably benign
R0492:Daam1	UTSW	12	71944380	missense	unknown
R0780:Daam1	UTSW	12	71947050	missense	unknown
R0973:Daam1	UTSW	12	71915784	missense	unknown
R0974:Daam1	UTSW	12	71915784	missense	unknown
R1264:Daam1	UTSW	12	71975311	splice site	probably benign
R1462:Daam1	UTSW	12	71944142	missense	unknown
R1462:Daam1	UTSW	12	71944142	missense	unknown
R1510:Daam1	UTSW	12	71977726	missense	probably damaging	1.00
R1535:Daam1	UTSW	12	71951918	missense	unknown
R1688:Daam1	UTSW	12	71947046	missense	unknown
R1713:Daam1	UTSW	12	71895882	missense	unknown
R1957:Daam1	UTSW	12	71982755	critical splice donor site	probably null
R1974:Daam1	UTSW	12	71988929	missense	probably damaging	0.99
R2217:Daam1	UTSW	12	71989827	missense	probably damaging	1.00
R2507:Daam1	UTSW	12	71975223	missense	probably damaging	1.00
R2508:Daam1	UTSW	12	71975223	missense	probably damaging	1.00
R3161:Daam1	UTSW	12	71947098	missense	unknown
R3748:Daam1	UTSW	12	71971166	missense	probably damaging	1.00
R3749:Daam1	UTSW	12	71971166	missense	probably damaging	1.00
R4635:Daam1	UTSW	12	71958744	splice site	probably null
R4862:Daam1	UTSW	12	71942207	missense	unknown
R5033:Daam1	UTSW	12	71946520	missense	unknown
R5180:Daam1	UTSW	12	71947125	missense	unknown
R5202:Daam1	UTSW	12	71944274	missense	unknown
R5254:Daam1	UTSW	12	71946576	missense	unknown
R5358:Daam1	UTSW	12	71952459	nonsense	probably null
R5413:Daam1	UTSW	12	71946292	missense	unknown
R5733:Daam1	UTSW	12	71945498	missense	unknown
R5752:Daam1	UTSW	12	71946546	missense	unknown
R5891:Daam1	UTSW	12	71944149	missense	unknown
R6111:Daam1	UTSW	12	71942264	missense	unknown
R6182:Daam1	UTSW	12	71959887	nonsense	probably null
R6251:Daam1	UTSW	12	71988949	missense	probably damaging	1.00
R6252:Daam1	UTSW	12	71988949	missense	probably damaging	1.00
R6291:Daam1	UTSW	12	71946251	missense	unknown
R6379:Daam1	UTSW	12	71951938	missense	unknown
R6776:Daam1	UTSW	12	71989808	missense	possibly damaging	0.96
R7167:Daam1	UTSW	12	71988904	missense	probably damaging	0.99
R7223:Daam1	UTSW	12	71988943	missense	probably damaging	1.00
R7340:Daam1	UTSW	12	71988939	missense	probably benign	0.28
R7467:Daam1	UTSW	12	71985806	nonsense	probably null
R7709:Daam1	UTSW	12	71977649	missense	probably benign	0.10
R7715:Daam1	UTSW	12	71988901	missense	probably benign	0.15
R8157:Daam1	UTSW	12	71952489	missense	probably damaging	1.00
R8187:Daam1	UTSW	12	71895828	missense	unknown
R8297:Daam1	UTSW	12	71951915	missense	unknown
R8963:Daam1	UTSW	12	71945244	missense	unknown
R9283:Daam1	UTSW	12	71988922	missense	probably damaging	1.00
R9402:Daam1	UTSW	12	71959830	missense	probably benign	0.09
R9563:Daam1	UTSW	12	71945477	missense	unknown
R9696:Daam1	UTSW	12	71944373	missense	unknown
R9762:Daam1	UTSW	12	71944081	missense	unknown
R9803:Daam1	UTSW	12	71944148	missense	unknown
X0019:Daam1	UTSW	12	71985692	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-12-01