Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Daam1'

251604

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

040414-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71877852-72039107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72021997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 732 (D732N)

Ref Sequence

ENSEMBL: ENSMUSP00000152532 (fasta)

Gene Model

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

AlphaFold

Q8BPM0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085299
AA Change: D741N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: D741N

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 damaging
Transcript: ENSMUST00000221317
AA Change: D732N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223272
AA Change: D741N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,132 (GRCm39)	T20I	probably benign	Het
Adamts2	C	T	11: 50,679,516 (GRCm39)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,239,298 (GRCm39)		probably null	Het
Ankrd61	T	C	5: 143,833,894 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,039 (GRCm39)	Y506S	possibly damaging	Het
Aox1	T	A	1: 58,382,832 (GRCm39)	H1037Q	probably benign	Het
Auh	G	A	13: 53,052,755 (GRCm39)	R47*	probably null	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,279,039 (GRCm39)	L667P	probably damaging	Het
Cenpe	A	T	3: 134,946,834 (GRCm39)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,799,969 (GRCm39)	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,833,236 (GRCm39)	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clu	T	C	14: 66,212,452 (GRCm39)	V135A	probably damaging	Het
Cmip	T	A	8: 118,163,432 (GRCm39)	S388T	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Crym	T	C	7: 119,801,050 (GRCm39)	N33S	probably benign	Het
Ctcf	T	A	8: 106,398,016 (GRCm39)	V434E	probably damaging	Het
Dcaf13	A	G	15: 39,008,547 (GRCm39)	Y383C	probably benign	Het
Dock2	T	C	11: 34,262,485 (GRCm39)	T957A	probably benign	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Eif1ad16	T	C	12: 87,985,258 (GRCm39)	Y95C	probably damaging	Het
Fads3	A	G	19: 10,033,818 (GRCm39)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,456,592 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,974,553 (GRCm39)	K322N	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,178,473 (GRCm39)	T322A	probably damaging	Het
Gm6871	T	A	7: 41,197,414 (GRCm39)	T149S	probably benign	Het
Gpr26	C	T	7: 131,568,823 (GRCm39)	T56I	probably damaging	Het
Grik4	C	A	9: 42,533,438 (GRCm39)	G361C	probably damaging	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Igsf5	T	A	16: 96,165,247 (GRCm39)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,289,355 (GRCm39)	I522F	probably damaging	Het
Insm2	C	A	12: 55,647,096 (GRCm39)	T280K	probably benign	Het
Itih4	T	C	14: 30,617,435 (GRCm39)	V585A	probably damaging	Het
Katnip	T	A	7: 125,394,515 (GRCm39)	V197D	probably benign	Het
Knl1	A	T	2: 118,888,849 (GRCm39)	R17*	probably null	Het
Lag3	G	T	6: 124,888,272 (GRCm39)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,648,093 (GRCm39)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,697,941 (GRCm39)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,736,717 (GRCm39)	D872V	probably damaging	Het
Mlycd	T	C	8: 120,134,446 (GRCm39)		probably null	Het
Mpl	C	A	4: 118,312,954 (GRCm39)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,368,681 (GRCm39)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,104,424 (GRCm39)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Neb	T	C	2: 52,085,533 (GRCm39)	I1521V	probably benign	Het
Notch1	A	G	2: 26,355,485 (GRCm39)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4p20	T	C	2: 88,253,800 (GRCm39)	T190A	possibly damaging	Het
Or6c66	T	A	10: 129,461,784 (GRCm39)	I49L	probably benign	Het
Or8k23	A	G	2: 86,186,708 (GRCm39)	L6P	possibly damaging	Het
Otogl	A	G	10: 107,710,361 (GRCm39)	L576P	probably damaging	Het
P2ry1	C	T	3: 60,910,900 (GRCm39)	T13M	probably damaging	Het
Pak6	A	T	2: 118,525,050 (GRCm39)	R559*	probably null	Het
Parvb	A	T	15: 84,182,171 (GRCm39)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,145,907 (GRCm39)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,126,092 (GRCm39)	Y775*	probably null	Het
Pgam5	A	G	5: 110,413,869 (GRCm39)	L98P	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,604,205 (GRCm39)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,102,428 (GRCm39)	I202F	probably benign	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,322,803 (GRCm39)	T249S	probably benign	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,840,163 (GRCm39)		probably null	Het
Rnf185	A	G	11: 3,368,067 (GRCm39)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,594,595 (GRCm39)	Y1266F	probably damaging	Het
Senp7	T	A	16: 55,971,725 (GRCm39)	H287Q	probably benign	Het
Sgsm3	T	C	15: 80,888,073 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,658 (GRCm39)	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190 (GRCm39)	T175I	probably benign	Het
Slc26a3	T	A	12: 31,520,902 (GRCm39)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,761,465 (GRCm39)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,994,461 (GRCm39)	C90S	probably damaging	Het
Sspo	T	C	6: 48,441,298 (GRCm39)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Syngr1	C	T	15: 79,995,941 (GRCm39)	T160M	probably damaging	Het
Tent2	A	G	13: 93,320,726 (GRCm39)	L109S	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,085 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm39)	V296E	probably damaging	Het
Timp2	C	T	11: 118,201,412 (GRCm39)	C75Y	probably damaging	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,158,940 (GRCm39)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,112,424 (GRCm39)	I74L	probably benign	Het
Trbv5	T	A	6: 41,039,555 (GRCm39)	Y53*	probably null	Het
Trpm5	T	C	7: 142,642,656 (GRCm39)	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,932,931 (GRCm39)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,147,620 (GRCm39)	I200F	probably benign	Het
Unc45a	G	A	7: 79,988,623 (GRCm39)	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182 (GRCm39)	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,855 (GRCm39)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,200,554 (GRCm39)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,954,229 (GRCm39)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,477,736 (GRCm39)	M225K	probably benign	Het
Wdr24	A	T	17: 26,043,273 (GRCm39)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,552,521 (GRCm39)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,168,264 (GRCm39)	H791R	unknown	Het
Zfp24	A	G	18: 24,150,927 (GRCm39)	L73P	probably damaging	Het
Zfp616	T	C	11: 73,974,121 (GRCm39)	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,680,429 (GRCm39)		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,680,430 (GRCm39)		probably benign	Het

Other mutations in Daam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Daam1	APN	12	71,988,993 (GRCm39)	missense	unknown
IGL00323:Daam1	APN	12	72,005,517 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAATAGCTGTTCCTTATGCCTTGC -3'
(R):5'- AGTGCTCCACAAGTGAACAC -3'

Sequencing Primer
(F):5'- GCTTGCCAGTTAGCAGAGCTTATAAC -3'
(R):5'- CAGATCATCTCTGGGAAGATTTTACC -3'

Posted On

2014-12-04