Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03370:Daam2'

420262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Daam2

Ensembl Gene

ENSMUSG00000040260

Gene Name

dishevelled associated activator of morphogenesis 2

Synonyms

2310016D11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

49763050-49871371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49793529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 329 (D329E)

Ref Sequence

ENSEMBL: ENSMUSP00000153095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057610] [ENSMUST00000224595]

AlphaFold

Q80U19

Predicted Effect

probably benign
Transcript: ENSMUST00000057610
AA Change: D329E

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: D329E

Domain	Start	End	E-Value	Type
Drf_GBD	40	228	4.89e-61	SMART
Drf_FH3	231	429	1.19e-73	SMART
Blast:FH2	476	513	4e-10	BLAST
low complexity region	514	534	N/A	INTRINSIC
low complexity region	539	576	N/A	INTRINSIC
FH2	595	1085	7.36e-99	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224595
AA Change: D329E

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224954

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	A	G	4: 56,741,173 (GRCm39)	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,829,881 (GRCm39)	I296T	probably damaging	Het
Col14a1	A	G	15: 55,351,937 (GRCm39)		probably null	Het
Defb26	A	G	2: 152,349,902 (GRCm39)	V126A	probably benign	Het
Fasn	A	T	11: 120,703,621 (GRCm39)	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,384,219 (GRCm39)	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,575,087 (GRCm39)	I13L	probably damaging	Het
Fggy	A	T	4: 95,710,301 (GRCm39)	H300L	probably damaging	Het
Fndc3c1	G	A	X: 105,464,307 (GRCm39)	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,742,946 (GRCm39)	R567H	probably benign	Het
Kpna6	G	A	4: 129,549,314 (GRCm39)	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931 (GRCm39)	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,297,219 (GRCm39)	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,437,385 (GRCm39)	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,418,514 (GRCm39)	R3820L	probably benign	Het
Mus81	A	G	19: 5,534,991 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,230,653 (GRCm39)	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,249,685 (GRCm39)	V29D	probably damaging	Het
Plch2	T	C	4: 155,071,371 (GRCm39)	S244G	probably benign	Het
Rapgef5	C	A	12: 117,694,294 (GRCm39)	T372K	probably damaging	Het
Rb1	A	G	14: 73,520,306 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,586,944 (GRCm39)	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 80,895,855 (GRCm39)		probably null	Het
Slc38a1	C	T	15: 96,477,228 (GRCm39)	V362I	possibly damaging	Het
Sun1	T	A	5: 139,216,886 (GRCm39)	D308E	probably damaging	Het
Tns1	C	T	1: 74,025,053 (GRCm39)	V387M	probably damaging	Het
Ttn	C	A	2: 76,582,083 (GRCm39)	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,725,641 (GRCm39)	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,607,265 (GRCm39)	F153L	probably benign	Het

Other mutations in Daam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Daam2	APN	17	49,797,332 (GRCm39)	missense	possibly damaging	0.82
IGL02373:Daam2	APN	17	49,780,408 (GRCm39)	missense	probably damaging	1.00
IGL02626:Daam2	APN	17	49,797,282 (GRCm39)	missense	possibly damaging	0.46
IGL02793:Daam2	APN	17	49,771,056 (GRCm39)	missense	probably damaging	1.00
IGL02861:Daam2	APN	17	49,776,455 (GRCm39)	missense	probably damaging	1.00
IGL02875:Daam2	APN	17	49,771,056 (GRCm39)	missense	probably damaging	1.00
R0145:Daam2	UTSW	17	49,787,806 (GRCm39)	missense	probably benign
R0310:Daam2	UTSW	17	49,770,952 (GRCm39)	critical splice donor site	probably null
R0362:Daam2	UTSW	17	49,787,813 (GRCm39)	splice site	probably null
R0423:Daam2	UTSW	17	49,776,449 (GRCm39)	nonsense	probably null
R0883:Daam2	UTSW	17	49,805,911 (GRCm39)	utr 5 prime	probably benign
R0928:Daam2	UTSW	17	49,795,255 (GRCm39)	missense	probably benign	0.30
R1444:Daam2	UTSW	17	49,787,779 (GRCm39)	missense	possibly damaging	0.89
R1559:Daam2	UTSW	17	49,803,148 (GRCm39)	splice site	probably benign
R1733:Daam2	UTSW	17	49,797,231 (GRCm39)	missense	possibly damaging	0.60
R1919:Daam2	UTSW	17	49,792,485 (GRCm39)	missense	probably benign	0.00
R1930:Daam2	UTSW	17	49,769,241 (GRCm39)	splice site	probably null
R1968:Daam2	UTSW	17	49,790,088 (GRCm39)	missense	probably damaging	1.00
R2520:Daam2	UTSW	17	49,787,785 (GRCm39)	nonsense	probably null
R3004:Daam2	UTSW	17	49,767,682 (GRCm39)	missense	probably damaging	0.98
R3726:Daam2	UTSW	17	49,776,766 (GRCm39)	missense	probably damaging	1.00
R3854:Daam2	UTSW	17	49,765,624 (GRCm39)	missense	probably benign
R4833:Daam2	UTSW	17	49,797,173 (GRCm39)	missense	possibly damaging	0.91
R4878:Daam2	UTSW	17	49,767,738 (GRCm39)	missense	probably damaging	1.00
R5015:Daam2	UTSW	17	49,783,550 (GRCm39)	missense	probably damaging	1.00
R5106:Daam2	UTSW	17	49,783,489 (GRCm39)	missense	probably damaging	1.00
R5184:Daam2	UTSW	17	49,801,419 (GRCm39)	missense	possibly damaging	0.50
R5419:Daam2	UTSW	17	49,787,782 (GRCm39)	missense	possibly damaging	0.95
R5529:Daam2	UTSW	17	49,766,085 (GRCm39)	missense	probably benign
R5974:Daam2	UTSW	17	49,771,501 (GRCm39)	missense	probably damaging	1.00
R5979:Daam2	UTSW	17	49,766,232 (GRCm39)	missense	possibly damaging	0.47
R6032:Daam2	UTSW	17	49,793,525 (GRCm39)	missense	probably damaging	1.00
R6032:Daam2	UTSW	17	49,793,525 (GRCm39)	missense	probably damaging	1.00
R6050:Daam2	UTSW	17	49,793,530 (GRCm39)	missense	possibly damaging	0.78
R6180:Daam2	UTSW	17	49,776,694 (GRCm39)	missense	probably damaging	0.99
R6225:Daam2	UTSW	17	49,801,467 (GRCm39)	missense	probably damaging	0.98
R6385:Daam2	UTSW	17	49,770,964 (GRCm39)	missense	probably damaging	1.00
R6426:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6427:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6428:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6539:Daam2	UTSW	17	49,776,739 (GRCm39)	missense	probably damaging	1.00
R7090:Daam2	UTSW	17	49,789,973 (GRCm39)	missense	probably damaging	0.99
R7108:Daam2	UTSW	17	49,767,702 (GRCm39)	missense	probably damaging	1.00
R7487:Daam2	UTSW	17	49,793,510 (GRCm39)	missense	probably benign	0.03
R7599:Daam2	UTSW	17	49,787,755 (GRCm39)	nonsense	probably null
R7763:Daam2	UTSW	17	49,797,050 (GRCm39)	missense	probably benign	0.04
R8039:Daam2	UTSW	17	49,771,566 (GRCm39)	missense	probably damaging	1.00
R8700:Daam2	UTSW	17	49,803,180 (GRCm39)	missense	probably damaging	1.00
R9000:Daam2	UTSW	17	49,769,197 (GRCm39)	missense	probably damaging	1.00
R9286:Daam2	UTSW	17	49,786,922 (GRCm39)	missense	possibly damaging	0.63
R9508:Daam2	UTSW	17	49,765,618 (GRCm39)	missense	probably damaging	1.00
R9621:Daam2	UTSW	17	49,780,332 (GRCm39)	missense	probably damaging	1.00
V1662:Daam2	UTSW	17	49,771,629 (GRCm39)	missense	possibly damaging	0.85
Z1177:Daam2	UTSW	17	49,796,044 (GRCm39)	missense	probably damaging	1.00
Z1177:Daam2	UTSW	17	49,771,648 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02