Mutagenetix > Incidental Mutation

Incidental Mutation 'R1957:Daam1'

217953

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

039971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1957 (G1)

Quality Score

114

Status

Validated

Chromosome

Chromosomal Location

71877852-72039107 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72029529 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 null
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 null
Transcript: ENSMUST00000221317

Predicted Effect

probably null
Transcript: ENSMUST00000223272

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (117/121)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,068 (GRCm39)		probably benign	Het
Aadacl4fm5	G	A	4: 144,504,389 (GRCm39)	T254I	possibly damaging	Het
Abce1	A	G	8: 80,412,578 (GRCm39)	I583T	probably benign	Het
Abtb3	T	C	10: 85,469,563 (GRCm39)	L828P	probably damaging	Het
Adcy1	A	T	11: 7,111,945 (GRCm39)	T937S	probably benign	Het
Adgra2	A	G	8: 27,601,196 (GRCm39)	I279V	possibly damaging	Het
Adgrl4	A	T	3: 151,216,416 (GRCm39)	N533I	possibly damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Amelx	A	T	X: 167,965,153 (GRCm39)		probably null	Het
Anks1b	A	T	10: 89,885,792 (GRCm39)	T163S	probably damaging	Het
Apc	A	G	18: 34,450,388 (GRCm39)	E2394G	probably damaging	Het
Arhgef39	C	T	4: 43,499,309 (GRCm39)	G56E	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arsj	A	G	3: 126,232,670 (GRCm39)	N472S	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
B3gat1	A	T	9: 26,667,248 (GRCm39)	D160V	possibly damaging	Het
Bmp7	T	C	2: 172,781,714 (GRCm39)	E50G	probably damaging	Het
Bms1	T	C	6: 118,369,939 (GRCm39)	E869G	probably damaging	Het
Brd4	G	A	17: 32,440,340 (GRCm39)	P332L	possibly damaging	Het
C130074G19Rik	T	C	1: 184,615,095 (GRCm39)	T32A	probably benign	Het
C1rl	A	T	6: 124,486,021 (GRCm39)	Y464F	probably damaging	Het
Ccdc150	T	A	1: 54,303,068 (GRCm39)	M193K	probably benign	Het
Ccdc7a	A	G	8: 129,706,616 (GRCm39)	S338P	probably damaging	Het
Cenpu	T	C	8: 47,025,872 (GRCm39)		probably benign	Het
Cep170	A	C	1: 176,597,013 (GRCm39)	V448G	probably benign	Het
Col27a1	G	T	4: 63,196,031 (GRCm39)	A879S	probably benign	Het
Crtac1	C	T	19: 42,276,383 (GRCm39)	S515N	possibly damaging	Het
Cstad	G	A	2: 30,498,293 (GRCm39)	V43M	unknown	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dsg3	A	G	18: 20,655,162 (GRCm39)	N153S	probably damaging	Het
Dzip3	C	A	16: 48,747,956 (GRCm39)	L1151F	probably damaging	Het
Eml5	A	T	12: 98,826,220 (GRCm39)	H644Q	probably damaging	Het
Emsy	A	G	7: 98,297,027 (GRCm39)	L52P	probably damaging	Het
Eno1	T	A	4: 150,331,232 (GRCm39)		probably null	Het
Epha3	T	A	16: 63,593,315 (GRCm39)	T258S	probably benign	Het
Ern1	T	C	11: 106,317,723 (GRCm39)	T134A	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fam151b	T	A	13: 92,614,411 (GRCm39)	T26S	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Fbn1	T	C	2: 125,209,574 (GRCm39)	N930S	possibly damaging	Het
Fgr	A	G	4: 132,725,673 (GRCm39)	M361V	probably benign	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Fndc7	G	A	3: 108,790,825 (GRCm39)	T67I	probably damaging	Het
Fxr2	A	G	11: 69,534,766 (GRCm39)	T216A	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5174	A	T	10: 86,492,617 (GRCm39)		noncoding transcript	Het
Gm5431	A	T	11: 48,779,224 (GRCm39)	L844*	probably null	Het
Gm6489	T	C	1: 31,326,452 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,678 (GRCm39)	V344A	probably damaging	Het
Gtpbp3	A	G	8: 71,943,099 (GRCm39)	E170G	probably damaging	Het
H2az1	A	C	3: 137,571,275 (GRCm39)		probably benign	Het
Heatr1	A	G	13: 12,411,419 (GRCm39)	N87D	probably damaging	Het
Iars2	T	C	1: 185,027,868 (GRCm39)	K687E	possibly damaging	Het
Ica1	T	C	6: 8,749,736 (GRCm39)	D71G	possibly damaging	Het
Ifnlr1	T	C	4: 135,413,881 (GRCm39)	L10P	probably damaging	Het
Il1r1	T	A	1: 40,352,300 (GRCm39)	L490*	probably null	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itgbl1	T	A	14: 124,204,090 (GRCm39)	F394I	probably damaging	Het
Kat6b	T	C	14: 21,678,947 (GRCm39)	Y437H	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Krt27	A	T	11: 99,237,309 (GRCm39)		probably null	Het
Mki67	A	T	7: 135,300,128 (GRCm39)	D1635E	probably benign	Het
Mmp23	G	T	4: 155,736,509 (GRCm39)	H177Q	possibly damaging	Het
Myef2l	G	T	3: 10,154,346 (GRCm39)	V372F	probably benign	Het
Mylk2	C	A	2: 152,759,527 (GRCm39)	Q406K	possibly damaging	Het
Myo1g	A	G	11: 6,462,159 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,197,160 (GRCm39)	T261A	probably benign	Het
Nmt2	C	T	2: 3,326,419 (GRCm39)	P486L	possibly damaging	Het
Oard1	T	A	17: 48,722,304 (GRCm39)	L100*	probably null	Het
Oca2	T	C	7: 55,971,246 (GRCm39)	I391T	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5k17	T	A	16: 58,746,530 (GRCm39)	M135L	probably benign	Het
Or5p64	A	C	7: 107,854,403 (GRCm39)	L314*	probably null	Het
Or6c68	A	T	10: 129,157,740 (GRCm39)	I83F	possibly damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Or9k2b	C	A	10: 130,015,847 (GRCm39)	A301S	possibly damaging	Het
Pabpc4	T	A	4: 123,180,658 (GRCm39)	S127T	probably damaging	Het
Pcdhb1	A	G	18: 37,398,760 (GRCm39)	D237G	probably damaging	Het
Pdcd6ip	T	C	9: 113,537,090 (GRCm39)	Y29C	probably damaging	Het
Phf3	C	A	1: 30,870,601 (GRCm39)	R95L	probably damaging	Het
Pkd1l2	A	T	8: 117,757,421 (GRCm39)	V1539D	probably damaging	Het
Plxna1	A	T	6: 89,308,273 (GRCm39)	D1271E	probably damaging	Het
Ppp3r2	A	G	4: 49,681,726 (GRCm39)	F75L	probably damaging	Het
Pth2r	C	A	1: 65,411,514 (GRCm39)	D350E	probably damaging	Het
Rabgap1	T	C	2: 37,373,774 (GRCm39)	F262S	possibly damaging	Het
Rbbp6	T	C	7: 122,589,511 (GRCm39)	S438P	probably benign	Het
Rexo1	G	A	10: 80,379,200 (GRCm39)	R1038C	probably damaging	Het
Rnf10	A	G	5: 115,398,381 (GRCm39)		probably benign	Het
Scyl1	C	A	19: 5,810,132 (GRCm39)	A565S	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc32a1	T	C	2: 158,455,963 (GRCm39)	V206A	probably damaging	Het
Smyd5	G	A	6: 85,415,121 (GRCm39)	R43Q	probably benign	Het
Snrnp200	G	A	2: 127,058,095 (GRCm39)	A286T	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Srebf2	T	A	15: 82,079,155 (GRCm39)	H794Q	probably benign	Het
Ssbp2	T	C	13: 91,812,303 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,455,207 (GRCm39)	G3023D	probably damaging	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stab2	A	G	10: 86,697,334 (GRCm39)	Y1985H	probably benign	Het
Suz12	A	G	11: 79,889,926 (GRCm39)	M146V	probably benign	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,899 (GRCm39)	E323G	probably damaging	Het
Tnfrsf26	T	A	7: 143,171,660 (GRCm39)	T98S	probably damaging	Het
Trim15	T	C	17: 37,173,215 (GRCm39)		probably benign	Het
Trpt1	T	C	19: 6,975,561 (GRCm39)	V105A	possibly damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r175	A	G	7: 23,507,808 (GRCm39)	V273A	probably benign	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Wdfy4	A	T	14: 32,693,641 (GRCm39)	L2728Q	probably damaging	Het
Zfp934	T	A	13: 62,666,108 (GRCm39)	T178S	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTAAGCATATGCCTGCCTCC -3'
(R):5'- GAATTGTTGGCCCTCCTCAC -3'

Sequencing Primer
(F):5'- TATGCCTGCCTCCAAGCACG -3'
(R):5'- CTCAGGACACTTGGCTGTATGAAAC -3'

Posted On

2014-08-01