Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Daam1'

721267

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71877852-72039107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71992251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000082406 (fasta)

Gene Model

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

AlphaFold

Q8BPM0

Predicted Effect

unknown
Transcript: ENSMUST00000085299
AA Change: E322G

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: E322G

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: E322G

Predicted Effect

unknown
Transcript: ENSMUST00000223272
AA Change: E322G

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,645,009 (GRCm39)	D953E	probably damaging	Het
Acod1	A	C	14: 103,287,109 (GRCm39)	Y80S	probably damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Akna	A	G	4: 63,312,944 (GRCm39)	V393A	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Amz1	T	A	5: 140,738,133 (GRCm39)	D464E	probably damaging	Het
Anapc1	G	A	2: 128,505,980 (GRCm39)	Q619*	probably null	Het
Arfgef3	C	T	10: 18,522,275 (GRCm39)	G584R	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atr	G	C	9: 95,802,833 (GRCm39)	V1832L	probably damaging	Het
Bsn	T	C	9: 107,984,616 (GRCm39)	D374G		Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,863,758 (GRCm39)	S562P	probably benign	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,265,762 (GRCm39)	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Col6a6	C	A	9: 105,572,952 (GRCm39)	G2185C	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Cplane1	T	G	15: 8,216,563 (GRCm39)	L594V	probably benign	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,382 (GRCm39)	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,467 (GRCm39)	L738*	probably null	Het
Cul9	T	A	17: 46,820,897 (GRCm39)	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,151,707 (GRCm39)	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Dab2ip	T	A	2: 35,609,915 (GRCm39)	L710*	probably null	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dph1	T	C	11: 75,076,825 (GRCm39)	T60A	possibly damaging	Het
Eme1	T	C	11: 94,541,339 (GRCm39)	D161G	probably benign	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,588,071 (GRCm39)	I568T	probably damaging	Het
F3	T	A	3: 121,527,822 (GRCm39)	L85H		Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw14	T	C	9: 109,106,335 (GRCm39)	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Foxr1	T	A	9: 44,352,199 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdpd4	T	C	7: 97,649,369 (GRCm39)	V450A	probably damaging	Het
Greb1	T	C	12: 16,774,824 (GRCm39)	Y191C	probably benign	Het
H3c11	T	C	13: 21,967,221 (GRCm39)	D107G	probably damaging	Het
Haus3	G	A	5: 34,325,300 (GRCm39)	R120W	probably benign	Het
Herc1	G	T	9: 66,294,193 (GRCm39)		probably null	Het
Hyal2	T	C	9: 107,447,844 (GRCm39)	W166R	probably damaging	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Itga7	C	T	10: 128,789,669 (GRCm39)	A1003V	probably damaging	Het
Itga8	T	A	2: 12,165,219 (GRCm39)	I797F	possibly damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,779,737 (GRCm39)	I203N	probably damaging	Het
Kif21b	T	A	1: 136,077,166 (GRCm39)	L396Q	probably damaging	Het
Kng1	T	G	16: 22,879,170 (GRCm39)	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,387,551 (GRCm39)	S288P	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrp1b	T	A	2: 41,185,711 (GRCm39)	I1449F		Het
Lrrk2	T	A	15: 91,634,043 (GRCm39)	I1380K	possibly damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Lyst	T	C	13: 13,812,408 (GRCm39)	L940P	probably benign	Het
Man2a2	T	A	7: 80,006,101 (GRCm39)	M996L	probably benign	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Map4k5	A	G	12: 69,863,167 (GRCm39)	V629A	probably benign	Het
Mapre2	A	G	18: 24,023,981 (GRCm39)	E325G	unknown	Het
Mbnl1	A	G	3: 60,520,715 (GRCm39)	N101S	probably benign	Het
Meltf	T	A	16: 31,703,869 (GRCm39)	C199S	probably damaging	Het
Mmab	T	C	5: 114,574,850 (GRCm39)	E141G	probably benign	Het
Mtcl2	G	A	2: 156,902,182 (GRCm39)	R278C	probably damaging	Het
Mtus2	T	C	5: 148,250,217 (GRCm39)	L1317P		Het
Muc6	T	A	7: 141,217,783 (GRCm39)	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Nek1	A	G	8: 61,577,157 (GRCm39)	E1118G	probably benign	Het
Nrtn	A	G	17: 57,058,416 (GRCm39)	V195A	probably damaging	Het
Nsd3	G	A	8: 26,204,230 (GRCm39)	V420I		Het
Or52e4	T	C	7: 104,706,281 (GRCm39)	L276P	possibly damaging	Het
Or52z13	A	T	7: 103,247,225 (GRCm39)	Q234L	probably benign	Het
Or5ac23	T	C	16: 59,149,765 (GRCm39)	I36V	probably benign	Het
Or5b99	T	A	19: 12,976,983 (GRCm39)	I211N	probably damaging	Het
Or5t9	A	G	2: 86,659,098 (GRCm39)	M1V	probably null	Het
Or6ae1	G	A	7: 139,742,233 (GRCm39)	T210I	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or8b56	A	T	9: 38,739,014 (GRCm39)	H3L	probably benign	Het
Pde10a	G	T	17: 9,020,710 (GRCm39)	A216S	unknown	Het
Phldb2	T	C	16: 45,645,247 (GRCm39)	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,815,502 (GRCm39)	T1920S		Het
Ptgs2	T	A	1: 149,981,419 (GRCm39)	N567K	probably benign	Het
Pwp1	T	A	10: 85,712,370 (GRCm39)	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,754,668 (GRCm39)	E296G	probably null	Het
Rb1cc1	A	G	1: 6,314,339 (GRCm39)	K337R	probably benign	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	T	C	7: 108,637,997 (GRCm39)	E253G	possibly damaging	Het
Rictor	A	T	15: 6,797,562 (GRCm39)	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,811,141 (GRCm39)	V174E	possibly damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rrad	A	G	8: 105,355,324 (GRCm39)	F228S	probably damaging	Het
Scn3a	A	T	2: 65,291,595 (GRCm39)	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,193,729 (GRCm39)	D152G	probably benign	Het
Scn5a	C	A	9: 119,315,803 (GRCm39)	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Shprh	T	A	10: 11,042,235 (GRCm39)	Y739*	probably null	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc7a12	A	G	3: 14,564,360 (GRCm39)	I349V	possibly damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,480,841 (GRCm39)	A231V	unknown	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spmip2	A	T	3: 79,356,616 (GRCm39)	M140L	probably benign	Het
Ssbp1	T	A	6: 40,454,968 (GRCm39)	S142R	probably benign	Het
Stard3	A	G	11: 98,270,797 (GRCm39)		probably null	Het
Strn3	G	T	12: 51,674,300 (GRCm39)	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739 (GRCm39)	T195A	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmed5	A	C	5: 108,280,100 (GRCm39)		probably null	Het
Tmem132a	C	T	19: 10,838,960 (GRCm39)	R494H	probably benign	Het
Tom1	A	G	8: 75,787,177 (GRCm39)	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,239,473 (GRCm39)	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,155,945 (GRCm39)	K105N	possibly damaging	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,276,378 (GRCm39)	N786K	probably benign	Het
Trpc3	A	G	3: 36,705,683 (GRCm39)	M504T	probably benign	Het
Ttc28	A	T	5: 111,371,092 (GRCm39)	M545L	probably benign	Het
Uggt1	A	C	1: 36,204,627 (GRCm39)	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,589,880 (GRCm39)	Q679*	probably null	Het
Wdfy4	T	C	14: 32,692,833 (GRCm39)	I2958V		Het
Zbtb37	C	T	1: 160,847,840 (GRCm39)	S389N	possibly damaging	Het
Zfp235	T	C	7: 23,841,669 (GRCm39)	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,765,732 (GRCm39)	C1420S	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
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
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
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'- TCAAGACGGCCATCATGTCC -3'
(R):5'- AGTTCTACATTCCAGATGTCGC -3'

Sequencing Primer
(F):5'- TAAGATGCTTGCACTGCAGC -3'
(R):5'- ATTCCAGATGTCGCAGTCTACAGG -3'

Posted On

2022-08-09