Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00323:Daam1'

10044

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00323

Quality Score

Status

Chromosome

Chromosomal Location

71877852-72039107 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 72005517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152564 (fasta)

Gene Model

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

AlphaFold

Q8BPM0

Predicted Effect

probably benign
Transcript: ENSMUST00000085299

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574

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

probably benign
Transcript: ENSMUST00000221317

Predicted Effect

probably benign
Transcript: ENSMUST00000223272

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	C	14: 49,311,247 (GRCm39)	Y106H	probably damaging	Het
Atrnl1	C	A	19: 57,680,249 (GRCm39)	N716K	probably benign	Het
Ccnq	A	G	11: 78,641,782 (GRCm39)	V236A	probably benign	Het
Cdk13	A	T	13: 17,895,683 (GRCm39)	N1075K	possibly damaging	Het
Exd2	T	C	12: 80,522,940 (GRCm39)	V133A	probably damaging	Het
Glrb	T	C	3: 80,769,262 (GRCm39)	D155G	probably damaging	Het
Gm13941	T	A	2: 110,935,198 (GRCm39)	M11L	unknown	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Inpp5d	G	T	1: 87,611,537 (GRCm39)	V329F	probably benign	Het
Lilrb4b	A	T	10: 51,357,347 (GRCm39)	D61V	probably benign	Het
Malt1	T	A	18: 65,582,034 (GRCm39)	C299*	probably null	Het
Or10j27	G	A	1: 172,957,978 (GRCm39)	Q269*	probably null	Het
Or4f14	A	T	2: 111,742,381 (GRCm39)	M298K	possibly damaging	Het
Pigk	C	A	3: 152,453,269 (GRCm39)	S282*	probably null	Het
Pik3r1	T	A	13: 101,827,044 (GRCm39)	M1L	probably benign	Het
Pnpla1	A	G	17: 29,096,416 (GRCm39)	Y165C	probably damaging	Het
Rfx7	A	G	9: 72,524,702 (GRCm39)	N631D	probably damaging	Het
Rp1	T	A	1: 4,416,969 (GRCm39)	D1381V	probably damaging	Het
Rrp8	T	C	7: 105,382,223 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,210,745 (GRCm39)	D1757E	probably benign	Het
Sec62	T	C	3: 30,864,591 (GRCm39)		probably benign	Het
Smarca5	G	A	8: 81,440,670 (GRCm39)	T598M	probably benign	Het
Sptbn5	T	C	2: 119,884,948 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,141,885 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,861,263 (GRCm39)	E71D	probably benign	Het
Trhde	A	T	10: 114,322,652 (GRCm39)	S716R	possibly damaging	Het
Ttn	T	C	2: 76,726,859 (GRCm39)		probably benign	Het
Wscd2	A	C	5: 113,689,236 (GRCm39)	T81P	possibly damaging	Het
Zfp335	G	A	2: 164,734,302 (GRCm39)	T1295I	probably damaging	Het

Other mutations in Daam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Daam1	APN	12	71,988,993 (GRCm39)	missense	unknown
IGL00885:Daam1	APN	12	71,990,865 (GRCm39)	missense	unknown
IGL01768:Daam1	APN	12	72,036,659 (GRCm39)	missense	probably benign	0.39
IGL02189:Daam1	APN	12	71,993,059 (GRCm39)	missense	unknown
IGL02237:Daam1	APN	12	72,029,495 (GRCm39)	missense	probably benign	0.01
IGL02486:Daam1	APN	12	71,993,919 (GRCm39)	splice site	probably benign
IGL02561:Daam1	APN	12	71,993,290 (GRCm39)	missense	unknown
IGL02699:Daam1	APN	12	72,035,717 (GRCm39)	missense	probably damaging	1.00
IGL02977:Daam1	APN	12	71,990,946 (GRCm39)	missense	unknown
R0390:Daam1	UTSW	12	72,022,078 (GRCm39)	splice site	probably benign
R0492:Daam1	UTSW	12	71,991,154 (GRCm39)	missense	unknown
R0780:Daam1	UTSW	12	71,993,824 (GRCm39)	missense	unknown
R0973:Daam1	UTSW	12	71,962,558 (GRCm39)	missense	unknown
R0973:Daam1	UTSW	12	71,962,558 (GRCm39)	missense	unknown
R0974:Daam1	UTSW	12	71,962,558 (GRCm39)	missense	unknown
R1264:Daam1	UTSW	12	72,022,085 (GRCm39)	splice site	probably benign
R1462:Daam1	UTSW	12	71,990,916 (GRCm39)	missense	unknown
R1462:Daam1	UTSW	12	71,990,916 (GRCm39)	missense	unknown
R1510:Daam1	UTSW	12	72,024,500 (GRCm39)	missense	probably damaging	1.00
R1535:Daam1	UTSW	12	71,998,692 (GRCm39)	missense	unknown
R1688:Daam1	UTSW	12	71,993,820 (GRCm39)	missense	unknown
R1713:Daam1	UTSW	12	71,942,656 (GRCm39)	missense	unknown
R1957:Daam1	UTSW	12	72,029,529 (GRCm39)	critical splice donor site	probably null
R1974:Daam1	UTSW	12	72,035,703 (GRCm39)	missense	probably damaging	0.99
R2217:Daam1	UTSW	12	72,036,601 (GRCm39)	missense	probably damaging	1.00
R2507:Daam1	UTSW	12	72,021,997 (GRCm39)	missense	probably damaging	1.00
R2508:Daam1	UTSW	12	72,021,997 (GRCm39)	missense	probably damaging	1.00
R3161:Daam1	UTSW	12	71,993,872 (GRCm39)	missense	unknown
R3748:Daam1	UTSW	12	72,017,940 (GRCm39)	missense	probably damaging	1.00
R3749:Daam1	UTSW	12	72,017,940 (GRCm39)	missense	probably damaging	1.00
R4635:Daam1	UTSW	12	72,005,518 (GRCm39)	splice site	probably null
R4862:Daam1	UTSW	12	71,988,981 (GRCm39)	missense	unknown
R5033:Daam1	UTSW	12	71,993,294 (GRCm39)	missense	unknown
R5180:Daam1	UTSW	12	71,993,899 (GRCm39)	missense	unknown
R5202:Daam1	UTSW	12	71,991,048 (GRCm39)	missense	unknown
R5254:Daam1	UTSW	12	71,993,350 (GRCm39)	missense	unknown
R5358:Daam1	UTSW	12	71,999,233 (GRCm39)	nonsense	probably null
R5413:Daam1	UTSW	12	71,993,066 (GRCm39)	missense	unknown
R5733:Daam1	UTSW	12	71,992,272 (GRCm39)	missense	unknown
R5752:Daam1	UTSW	12	71,993,320 (GRCm39)	missense	unknown
R5891:Daam1	UTSW	12	71,990,923 (GRCm39)	missense	unknown
R6111:Daam1	UTSW	12	71,989,038 (GRCm39)	missense	unknown
R6182:Daam1	UTSW	12	72,006,661 (GRCm39)	nonsense	probably null
R6251:Daam1	UTSW	12	72,035,723 (GRCm39)	missense	probably damaging	1.00
R6252:Daam1	UTSW	12	72,035,723 (GRCm39)	missense	probably damaging	1.00
R6291:Daam1	UTSW	12	71,993,025 (GRCm39)	missense	unknown
R6379:Daam1	UTSW	12	71,998,712 (GRCm39)	missense	unknown
R6776:Daam1	UTSW	12	72,036,582 (GRCm39)	missense	possibly damaging	0.96
R7167:Daam1	UTSW	12	72,035,678 (GRCm39)	missense	probably damaging	0.99
R7223:Daam1	UTSW	12	72,035,717 (GRCm39)	missense	probably damaging	1.00
R7340:Daam1	UTSW	12	72,035,713 (GRCm39)	missense	probably benign	0.28
R7467:Daam1	UTSW	12	72,032,580 (GRCm39)	nonsense	probably null
R7709:Daam1	UTSW	12	72,024,423 (GRCm39)	missense	probably benign	0.10
R7715:Daam1	UTSW	12	72,035,675 (GRCm39)	missense	probably benign	0.15
R8157:Daam1	UTSW	12	71,999,263 (GRCm39)	missense	probably damaging	1.00
R8187:Daam1	UTSW	12	71,942,602 (GRCm39)	missense	unknown
R8297:Daam1	UTSW	12	71,998,689 (GRCm39)	missense	unknown
R8963:Daam1	UTSW	12	71,992,018 (GRCm39)	missense	unknown
R9283:Daam1	UTSW	12	72,035,696 (GRCm39)	missense	probably damaging	1.00
R9402:Daam1	UTSW	12	72,006,604 (GRCm39)	missense	probably benign	0.09
R9563:Daam1	UTSW	12	71,992,251 (GRCm39)	missense	unknown
R9696:Daam1	UTSW	12	71,991,147 (GRCm39)	missense	unknown
R9762:Daam1	UTSW	12	71,990,855 (GRCm39)	missense	unknown
R9803:Daam1	UTSW	12	71,990,922 (GRCm39)	missense	unknown
X0019:Daam1	UTSW	12	72,032,466 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06