Mutagenetix > Incidental Mutation

Incidental Mutation 'R3161:Daam1'

258179

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

040612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71831078-71992333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71947098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 425 (T425K)

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: T425K

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: T425K

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: T425K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222327

Predicted Effect

unknown
Transcript: ENSMUST00000223272
AA Change: T425K

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,896,490		probably benign	Het
1700066M21Rik	T	A	1: 57,383,075	N203K	probably benign	Het
1700125H20Rik	A	G	11: 85,173,284	S84G	probably damaging	Het
Adcy9	A	G	16: 4,311,588	L715P	probably damaging	Het
Adgrl2	G	A	3: 148,817,551	L1354F	probably damaging	Het
Amer2	A	G	14: 60,378,551	D65G	probably damaging	Het
Aox2	G	T	1: 58,304,438	V427L	possibly damaging	Het
Atad2b	C	A	12: 4,939,689	N133K	possibly damaging	Het
Bptf	A	T	11: 107,074,476	D1182E	probably damaging	Het
Camk1g	T	C	1: 193,359,807	T45A	possibly damaging	Het
Caps2	C	A	10: 112,182,486	Y180*	probably null	Het
Cfap54	T	A	10: 93,045,278	K349N	probably damaging	Het
Ciz1	A	G	2: 32,370,063	D207G	probably benign	Het
Copa	T	A	1: 172,091,233	C127S	probably damaging	Het
Crabp2	A	T	3: 87,952,177	K45*	probably null	Het
Dapk2	T	G	9: 66,254,611	V267G	probably damaging	Het
Disp1	T	C	1: 183,087,242	K1205E	probably benign	Het
Dlg4	G	C	11: 70,017,225	R4T	probably damaging	Het
Fbf1	A	G	11: 116,148,220	I743T	probably damaging	Het
Fen1	A	G	19: 10,200,291	L263P	probably damaging	Het
G6pc2	A	G	2: 69,220,112	N27S	probably damaging	Het
Garnl3	A	T	2: 33,034,711	N246K	probably damaging	Het
Gm7337	A	C	5: 87,851,557		noncoding transcript	Het
Gpr152	A	G	19: 4,142,714	T85A	probably benign	Het
Hnrnpu	T	C	1: 178,331,125		probably benign	Het
Ighv1-81	C	G	12: 115,920,329	E101Q	probably benign	Het
Ipo9	T	C	1: 135,409,476	T174A	probably benign	Het
Myo9a	C	T	9: 59,832,315		probably benign	Het
Nup155	G	T	15: 8,148,383	R1083S	possibly damaging	Het
Olfr1351	C	A	10: 79,017,604	T94N	probably benign	Het
Olfr213	C	T	6: 116,540,846	A131V	probably damaging	Het
Olfr262	T	C	19: 12,241,496	H55R	probably benign	Het
Olfr739	T	A	14: 50,425,031	C171S	probably damaging	Het
Phyh	T	A	2: 4,937,671		probably benign	Het
Pkp4	G	T	2: 59,308,105	R233M	probably damaging	Het
Plcb1	A	T	2: 135,335,482	Q578L	probably benign	Het
Ppil3	A	T	1: 58,434,414	N92K	probably benign	Het
Prokr1	C	T	6: 87,588,431	R144H	probably damaging	Het
Psap	T	C	10: 60,277,753	L4P	possibly damaging	Het
Rai14	T	C	15: 10,633,164	T47A	possibly damaging	Het
Rps2	G	T	17: 24,720,978	A129S	probably benign	Het
Sult2a4	T	C	7: 13,989,471	T40A	probably benign	Het
Tacr2	A	G	10: 62,265,245	D378G	probably benign	Het
Topaz1	T	C	9: 122,749,381	I452T	probably benign	Het
Ttn	A	G	2: 76,833,237		probably benign	Het
Vmn2r115	T	A	17: 23,357,024	M532K	possibly damaging	Het
Vmn2r117	A	G	17: 23,460,378	L624P	probably damaging	Het
Vstm5	T	G	9: 15,257,298	S53A	probably benign	Het
Wipf1	C	T	2: 73,434,949	E437K	probably damaging	Het
Wls	G	T	3: 159,897,436	C162F	probably damaging	Het
Yeats2	T	C	16: 20,193,645	V531A	probably damaging	Het
Zfp868	A	G	8: 69,612,085	S200P	probably benign	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
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
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

PCR Primer
(F):5'- TGCTATTGACAGCGACTCATC -3'
(R):5'- TCTCTGGGCACACAAACAG -3'

Sequencing Primer
(F):5'- GACAGCGACTCATCCTAGTTTAC -3'
(R):5'- CAGTGTACTGCAGAGTCCTTG -3'

Posted On

2015-01-23