Mutagenetix > Incidental Mutation

Incidental Mutation 'R6379:Daam1'

515218

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6379 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71831078-71992333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71951938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 556 (L556F)

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: L556F

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: L556F

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: L556F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222327

Predicted Effect

unknown
Transcript: ENSMUST00000223272
AA Change: L556F

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,243,734	I99F	probably benign	Het
2010111I01Rik	T	A	13: 63,068,243	I443K	probably damaging	Het
6820408C15Rik	A	T	2: 152,427,992	R21S	probably benign	Het
9130011E15Rik	A	T	19: 45,921,697	V472D	possibly damaging	Het
9430007A20Rik	G	T	4: 144,522,342	R93L	probably benign	Het
9530053A07Rik	A	C	7: 28,157,592	T2122P	probably damaging	Het
Adcy5	A	T	16: 35,293,999	T991S	probably benign	Het
Aldh18a1	A	T	19: 40,577,770		probably null	Het
Anxa1	T	C	19: 20,373,715	*347W	probably null	Het
Arid1a	G	T	4: 133,680,927	L2090I	unknown	Het
Bambi	T	A	18: 3,512,198	L194Q	probably damaging	Het
Card9	A	G	2: 26,356,777	V353A	probably damaging	Het
Ccdc60	C	A	5: 116,131,023		probably null	Het
Ccdc71	A	G	9: 108,463,612	K208R	possibly damaging	Het
Cdh12	T	C	15: 21,492,657	V254A	probably benign	Het
Cep295nl	T	A	11: 118,333,730	N96I	probably benign	Het
Ces1f	C	A	8: 93,279,651	C17F	probably benign	Het
Clic6	C	A	16: 92,539,535	T577K	probably damaging	Het
Col28a1	T	C	6: 8,012,996	M1019V	probably benign	Het
Ctnnd2	C	A	15: 30,634,698	S73Y	probably damaging	Het
Dchs2	A	C	3: 83,355,146	N2907T	probably damaging	Het
Dlgap3	A	C	4: 127,234,974	E829A	probably damaging	Het
Dpysl5	A	T	5: 30,777,973		probably null	Het
Draxin	C	A	4: 148,107,943	C304F	probably damaging	Het
Eif3j1	A	G	2: 122,047,524	D131G	possibly damaging	Het
Fads1	T	C	19: 10,183,187	Y46H	probably damaging	Het
Figla	T	A	6: 86,018,580	I72K	probably damaging	Het
Fnbp4	T	A	2: 90,751,124	S174T	probably benign	Het
Foxn3	C	A	12: 99,196,278	A455S	probably benign	Het
Fyn	C	T	10: 39,455,074		probably benign	Het
Gm17727	T	A	9: 35,778,085		probably benign	Het
Gtse1	G	A	15: 85,864,224	G277S	probably benign	Het
Hist1h2bn	T	A	13: 21,754,418	V99E	probably benign	Het
Icam4	C	A	9: 21,029,782	A110E	probably damaging	Het
Itih3	G	A	14: 30,909,724	S802L	probably damaging	Het
Kcng4	T	A	8: 119,633,620	R6*	probably null	Het
Kmt2c	A	T	5: 25,359,341	C977S	probably damaging	Het
Lrrc8d	A	T	5: 105,812,809	M362L	probably benign	Het
Mtus2	T	C	5: 148,077,198	I267T	probably benign	Het
Nab1	A	G	1: 52,480,997	V275A	probably damaging	Het
Nfasc	G	A	1: 132,570,542	Q1308*	probably null	Het
Nop9	T	C	14: 55,745,792	S7P	possibly damaging	Het
Npbwr1	G	T	1: 5,917,219	N25K	probably benign	Het
Nptx2	T	C	5: 144,553,442	L227P	probably damaging	Het
Nrg1	T	C	8: 32,883,721		probably benign	Het
Nup160	T	A	2: 90,702,409	C571*	probably null	Het
Nynrin	T	C	14: 55,870,391	L985P	probably damaging	Het
Obsl1	A	C	1: 75,503,143	L341R	probably damaging	Het
Olfr398	T	G	11: 73,984,273	S112R	probably damaging	Het
Phip	G	T	9: 82,913,857	N570K	probably damaging	Het
Pigx	A	T	16: 32,084,523	I240N	probably damaging	Het
Platr25	T	C	13: 62,706,237	D37G	probably damaging	Het
Ppl	A	T	16: 5,097,691	M639K	probably benign	Het
Pqlc2	G	A	4: 139,299,985	L349F	probably benign	Het
Scnn1b	T	G	7: 121,915,328	M441R	probably benign	Het
Sh3gl1	A	T	17: 56,019,143	M121K	probably damaging	Het
Slc30a4	A	T	2: 122,689,549	V132D	probably damaging	Het
Slc38a7	A	G	8: 95,848,527	S42P	probably benign	Het
Srp68	A	G	11: 116,265,401	C172R	probably damaging	Het
Suz12	A	T	11: 80,015,188	D292V	possibly damaging	Het
Sv2b	A	T	7: 75,136,300	D457E	possibly damaging	Het
Tas2r120	T	C	6: 132,657,810	V285A	probably benign	Het
Tdo2	T	A	3: 81,958,795		probably benign	Het
Them7	G	T	2: 105,284,686		probably null	Het
Tnip2	T	C	5: 34,503,635	T158A	probably damaging	Het
Tonsl	C	T	15: 76,629,742	R1209H	probably benign	Het
Trpc2	T	A	7: 102,096,091	L838*	probably null	Het
Trpm1	A	G	7: 64,199,194	I63V	probably benign	Het
Vps13d	A	T	4: 145,088,258	N90K	probably benign	Het
Ylpm1	C	T	12: 85,030,800	S1433F	probably damaging	Het
Zbtb18	A	G	1: 177,447,575	D158G	probably damaging	Het
Zfhx2	T	A	14: 55,074,338	T300S	probably benign	Het
Zscan2	T	A	7: 80,863,337	D23E	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
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
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'- TGTTGCACATTCCTTCGACAAG -3'
(R):5'- GAACAAATGGCTTACCTCAGGC -3'

Sequencing Primer
(F):5'- GCACATTCCTTCGACAAGATTAG -3'
(R):5'- GCAACTTGGACCAGTTGAAGGATTTC -3'

Posted On

2018-05-04