Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Daam1'

561962

Institutional Source

Beutler Lab

Gene Symbol

Daam1

Ensembl Gene

ENSMUSG00000034574

Gene Name

dishevelled associated activator of morphogenesis 1

Synonyms

1700066F09Rik, 2310028E21Rik

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71831078-71992333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71988943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 971 (F971L)

Ref Sequence

ENSEMBL: ENSMUSP00000152564 (fasta)

Gene Model

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

AlphaFold

Q8BPM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000085299
AA Change: F971L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082406
Gene: ENSMUSG00000034574
AA Change: F971L

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: F962L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223272
AA Change: F971L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,274,143	V733E	probably benign	Het
Adam34	A	T	8: 43,652,004	N201K	probably benign	Het
Aldh3b2	A	C	19: 3,979,592	S322R	probably damaging	Het
Anpep	A	T	7: 79,825,310	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,407,571	F535S	probably damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2a	G	T	10: 128,112,606	G252V	probably damaging	Het
Brinp3	T	A	1: 146,901,074	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,496,238	F359S	possibly damaging	Het
Ccdc124	A	T	8: 70,868,526	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,256,140	V59A	probably damaging	Het
Ccr8	T	A	9: 120,094,617	I266N	probably damaging	Het
Cdh23	T	A	10: 60,331,817	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,235,447	N1713S	probably benign	Het
Cep19	T	A	16: 32,104,015	I33N	probably damaging	Het
Cers3	A	T	7: 66,783,415	Y196F	probably damaging	Het
Cidea	T	C	18: 67,366,421	I126T	probably damaging	Het
Copg2	A	T	6: 30,812,754	Y546*	probably null	Het
Cul3	A	T	1: 80,287,000	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,814,632	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,915,097	H390Y	probably damaging	Het
Dnajc24	G	A	2: 106,001,966	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,438,042	S56G	probably benign	Het
Esp1	A	G	17: 40,731,081	D88G	probably benign	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fam186b	T	C	15: 99,279,837	E536G	possibly damaging	Het
Fbxo3	T	C	2: 104,043,012	V156A	possibly damaging	Het
Gls2	C	A	10: 128,199,194	H65Q	probably benign	Het
Gp2	A	G	7: 119,451,498		probably null	Het
Gpcpd1	T	A	2: 132,534,056	K435I	probably benign	Het
Gpx6	T	A	13: 21,317,670		probably null	Het
Hps3	A	T	3: 20,030,419	S202T	probably benign	Het
Htr1d	T	A	4: 136,443,501	L347H	probably damaging	Het
Igfals	T	C	17: 24,881,234	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,583,696	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,628,972	M1530K	probably damaging	Het
Jarid2	A	G	13: 44,896,322	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,074,009	V323I	possibly damaging	Het
Lama3	C	T	18: 12,582,608	T1707I	possibly damaging	Het
Map6	G	T	7: 99,268,025	A2S	probably damaging	Het
Mfap3	T	A	11: 57,530,240	I349K	probably benign	Het
Mybl2	A	G	2: 163,072,705	T248A	probably benign	Het
N6amt1	A	G	16: 87,362,660	*151W	probably null	Het
Nhlrc1	A	G	13: 47,014,208	V191A	probably benign	Het
Nkx2-5	T	C	17: 26,839,620	E120G	possibly damaging	Het
Olfr1066	T	A	2: 86,455,867	I135F	possibly damaging	Het
Olfr1380	T	A	11: 49,564,098	M59K	probably damaging	Het
Olfr582	C	A	7: 103,041,632	T46N	possibly damaging	Het
Olfr890	T	C	9: 38,143,753	V201A	probably benign	Het
Pcdha8	T	G	18: 36,993,148	L228V	probably benign	Het
Pcsk2	A	G	2: 143,690,333	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,624,653	R484Q	probably benign	Het
Pipox	A	G	11: 77,881,186	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,873,343	S159P		Het
Psme4	C	T	11: 30,874,226	P1737S	probably benign	Het
Pygm	G	A	19: 6,388,863	D328N	probably benign	Het
Rabgef1	A	T	5: 130,190,960	E88V	probably benign	Het
Rims2	G	T	15: 39,437,032	R245L	probably benign	Het
Slc38a4	T	C	15: 97,010,345	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,268,665	Y586N	probably damaging	Het
Snap91	C	T	9: 86,879,557		probably benign	Het
Sorcs1	C	T	19: 50,190,042	V881I	probably benign	Het
Spef2	A	T	15: 9,601,640	V1512E	unknown	Het
Sufu	T	C	19: 46,453,277	I292T	possibly damaging	Het
Tet1	T	C	10: 62,813,671	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,499,534	T239A	not run	Het
Tmem121	A	T	12: 113,188,494	K111*	probably null	Het
Tpp2	T	A	1: 43,968,888	D417E	probably damaging	Het
Tpr	G	A	1: 150,439,256	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,275,152	A145V	possibly damaging	Het
Ttn	T	C	2: 76,890,981	D6754G	probably null	Het
Unc13c	T	A	9: 73,629,191	M1627L	probably benign	Het
Ush2a	A	G	1: 188,810,217	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,846,967	Q65*	probably null	Het
Wdr18	G	A	10: 79,960,368	R69H	probably damaging	Het
Zbed5	G	T	5: 129,900,438	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,637,582	Y366*	probably null	Het
Zfyve26	T	C	12: 79,246,171	N2068S	probably damaging	Het
Zic2	T	C	14: 122,476,091	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,710,162	Q141R	probably benign	Het
Zrsr1	A	G	11: 22,973,388	E54G	probably benign	Het
Zscan10	G	A	17: 23,609,482	D333N	probably benign	Het

Other mutations in Daam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Daam1	APN	12	71942219	missense	unknown
IGL00323:Daam1	APN	12	71958743	splice site	probably benign
IGL00885:Daam1	APN	12	71944091	missense	unknown
IGL01768:Daam1	APN	12	71989885	missense	probably benign	0.39
IGL02189:Daam1	APN	12	71946285	missense	unknown
IGL02237:Daam1	APN	12	71982721	missense	probably benign	0.01
IGL02486:Daam1	APN	12	71947145	splice site	probably benign
IGL02561:Daam1	APN	12	71946516	missense	unknown
IGL02699:Daam1	APN	12	71988943	missense	probably damaging	1.00
IGL02977:Daam1	APN	12	71944172	missense	unknown
R0390:Daam1	UTSW	12	71975304	splice site	probably benign
R0492:Daam1	UTSW	12	71944380	missense	unknown
R0780:Daam1	UTSW	12	71947050	missense	unknown
R0973:Daam1	UTSW	12	71915784	missense	unknown
R0973:Daam1	UTSW	12	71915784	missense	unknown
R0974:Daam1	UTSW	12	71915784	missense	unknown
R1264:Daam1	UTSW	12	71975311	splice site	probably benign
R1462:Daam1	UTSW	12	71944142	missense	unknown
R1462:Daam1	UTSW	12	71944142	missense	unknown
R1510:Daam1	UTSW	12	71977726	missense	probably damaging	1.00
R1535:Daam1	UTSW	12	71951918	missense	unknown
R1688:Daam1	UTSW	12	71947046	missense	unknown
R1713:Daam1	UTSW	12	71895882	missense	unknown
R1957:Daam1	UTSW	12	71982755	critical splice donor site	probably null
R1974:Daam1	UTSW	12	71988929	missense	probably damaging	0.99
R2217:Daam1	UTSW	12	71989827	missense	probably damaging	1.00
R2507:Daam1	UTSW	12	71975223	missense	probably damaging	1.00
R2508:Daam1	UTSW	12	71975223	missense	probably damaging	1.00
R3161:Daam1	UTSW	12	71947098	missense	unknown
R3748:Daam1	UTSW	12	71971166	missense	probably damaging	1.00
R3749:Daam1	UTSW	12	71971166	missense	probably damaging	1.00
R4635:Daam1	UTSW	12	71958744	splice site	probably null
R4862:Daam1	UTSW	12	71942207	missense	unknown
R5033:Daam1	UTSW	12	71946520	missense	unknown
R5180:Daam1	UTSW	12	71947125	missense	unknown
R5202:Daam1	UTSW	12	71944274	missense	unknown
R5254:Daam1	UTSW	12	71946576	missense	unknown
R5358:Daam1	UTSW	12	71952459	nonsense	probably null
R5413:Daam1	UTSW	12	71946292	missense	unknown
R5733:Daam1	UTSW	12	71945498	missense	unknown
R5752:Daam1	UTSW	12	71946546	missense	unknown
R5891:Daam1	UTSW	12	71944149	missense	unknown
R6111:Daam1	UTSW	12	71942264	missense	unknown
R6182:Daam1	UTSW	12	71959887	nonsense	probably null
R6251:Daam1	UTSW	12	71988949	missense	probably damaging	1.00
R6252:Daam1	UTSW	12	71988949	missense	probably damaging	1.00
R6291:Daam1	UTSW	12	71946251	missense	unknown
R6379:Daam1	UTSW	12	71951938	missense	unknown
R6776:Daam1	UTSW	12	71989808	missense	possibly damaging	0.96
R7167:Daam1	UTSW	12	71988904	missense	probably damaging	0.99
R7340:Daam1	UTSW	12	71988939	missense	probably benign	0.28
R7467:Daam1	UTSW	12	71985806	nonsense	probably null
R7709:Daam1	UTSW	12	71977649	missense	probably benign	0.10
R7715:Daam1	UTSW	12	71988901	missense	probably benign	0.15
R8157:Daam1	UTSW	12	71952489	missense	probably damaging	1.00
R8187:Daam1	UTSW	12	71895828	missense	unknown
R8297:Daam1	UTSW	12	71951915	missense	unknown
R8963:Daam1	UTSW	12	71945244	missense	unknown
R9283:Daam1	UTSW	12	71988922	missense	probably damaging	1.00
R9402:Daam1	UTSW	12	71959830	missense	probably benign	0.09
R9563:Daam1	UTSW	12	71945477	missense	unknown
R9696:Daam1	UTSW	12	71944373	missense	unknown
R9762:Daam1	UTSW	12	71944081	missense	unknown
R9803:Daam1	UTSW	12	71944148	missense	unknown
X0019:Daam1	UTSW	12	71985692	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTGGCTGGCTAAGAACCCTC -3'
(R):5'- AGTATCTGTCGTCATGTGGCAC -3'

Sequencing Primer
(F):5'- GCTAAGAACCCTCCGTTGTATTTGAG -3'
(R):5'- GGGAAAGGCCAACCCACTG -3'

Posted On

2019-06-26