Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Daam1'

508450

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 #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71877852-72039107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71993025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 338 (L338P)

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: L338P

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: L338P

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: L338P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222327

Predicted Effect

unknown
Transcript: ENSMUST00000223272
AA Change: L338P

Meta Mutation Damage Score

0.1518

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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
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'- TTTTGAGGCAGGCACTCACTG -3'
(R):5'- CTGCCATCTAGGTAACAGAGCAG -3'

Sequencing Primer
(F):5'- ACTGTGCCCCTAGCCTG -3'
(R):5'- AGCAGGATGTTGACTTAGCTCAC -3'

Posted On

2018-03-15