Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Daw1'

188238

Institutional Source

Beutler Lab

Gene Symbol

Daw1

Ensembl Gene

ENSMUSG00000053161

Gene Name

dynein assembly factor with WDR repeat domains 1

Synonyms

b2b1584Clo, Wdr69, b2b1116Clo, 4933429D11Rik, 4930563E19Rik

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83137473-83188295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83161087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 143 (N143I)

Ref Sequence

ENSEMBL: ENSMUSP00000109063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065403] [ENSMUST00000065436] [ENSMUST00000113436] [ENSMUST00000149342]

AlphaFold

D3Z7A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000065403
AA Change: N143I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: N143I

Domain	Start	End	E-Value	Type
WD40	81	120	1.17e-5	SMART
WD40	123	163	1.14e-8	SMART
WD40	166	205	1.95e-11	SMART
WD40	208	247	3.47e-8	SMART
WD40	250	289	2.98e-7	SMART
WD40	292	331	1.51e-8	SMART
WD40	334	373	4.87e-12	SMART
WD40	376	415	5.14e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000065436
AA Change: N143I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: N143I

Domain	Start	End	E-Value	Type
WD40	81	120	1.17e-5	SMART
WD40	145	184	3.37e-6	SMART
WD40	187	226	1.51e-8	SMART
WD40	229	268	4.87e-12	SMART
WD40	271	310	5.14e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113436
AA Change: N143I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: N143I

Domain	Start	End	E-Value	Type
WD40	81	120	1.17e-5	SMART
WD40	145	184	3.37e-6	SMART
WD40	187	226	1.51e-8	SMART
WD40	229	268	4.87e-12	SMART
WD40	271	317	7.99e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133079

Predicted Effect

probably benign
Transcript: ENSMUST00000149342

SMART Domains

Protein: ENSMUSP00000117796
Gene: ENSMUSG00000053161

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an induced mutation exhibit dextrocardia associated with situs inversus totalis, overriding aorta, ventricular septal defects, and dual inferior vena cava as well as dextrogastria, hypoplastic spleen, inverted liver, lung lobation/isomerism and dyskinetic/immotile airway cilia [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239 (GRCm38)	F515L	probably damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Dmd	T	A	X: 84,018,368 (GRCm39)	I3067N	probably benign	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Kcnq3	A	G	15: 65,903,281 (GRCm39)	L143P	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sctr	G	T	1: 119,964,169 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tcp1	T	A	17: 13,139,310 (GRCm39)	N212K	probably benign	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	probably benign	Het

Other mutations in Daw1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Daw1	APN	1	83,174,957 (GRCm39)	missense	probably damaging	1.00
IGL00717:Daw1	APN	1	83,175,900 (GRCm39)	missense	probably benign	0.03
IGL01320:Daw1	APN	1	83,175,901 (GRCm39)	missense	possibly damaging	0.82
IGL01869:Daw1	APN	1	83,159,965 (GRCm39)	splice site	probably benign
IGL02404:Daw1	APN	1	83,174,952 (GRCm39)	missense	probably benign	0.15
IGL02516:Daw1	APN	1	83,186,949 (GRCm39)	missense	probably benign	0.03
IGL02608:Daw1	APN	1	83,187,055 (GRCm39)	nonsense	probably null
IGL02992:Daw1	APN	1	83,174,934 (GRCm39)	splice site	probably benign
IGL03015:Daw1	APN	1	83,161,103 (GRCm39)	splice site	probably benign
IGL03099:Daw1	APN	1	83,157,088 (GRCm39)	critical splice donor site	probably null
R0050:Daw1	UTSW	1	83,158,086 (GRCm39)	missense	probably benign	0.01
R0631:Daw1	UTSW	1	83,174,981 (GRCm39)	missense	probably damaging	1.00
R0711:Daw1	UTSW	1	83,169,059 (GRCm39)	splice site	probably benign
R1420:Daw1	UTSW	1	83,137,548 (GRCm39)	missense	possibly damaging	0.51
R1943:Daw1	UTSW	1	83,186,987 (GRCm39)	missense	possibly damaging	0.91
R2006:Daw1	UTSW	1	83,169,066 (GRCm39)	missense	probably damaging	1.00
R2191:Daw1	UTSW	1	83,170,384 (GRCm39)	missense	probably benign	0.34
R4983:Daw1	UTSW	1	83,165,719 (GRCm39)	missense	probably benign	0.38
R5129:Daw1	UTSW	1	83,183,624 (GRCm39)	missense	probably damaging	0.99
R5282:Daw1	UTSW	1	83,170,419 (GRCm39)	missense	probably benign
R6128:Daw1	UTSW	1	83,183,647 (GRCm39)	nonsense	probably null
R7438:Daw1	UTSW	1	83,170,436 (GRCm39)	missense	probably benign
R8888:Daw1	UTSW	1	83,187,011 (GRCm39)	missense	probably damaging	0.99
R8895:Daw1	UTSW	1	83,187,011 (GRCm39)	missense	probably damaging	0.99
R8900:Daw1	UTSW	1	83,175,898 (GRCm39)	missense	probably benign	0.00
R8901:Daw1	UTSW	1	83,183,643 (GRCm39)	missense	possibly damaging	0.70
Z1088:Daw1	UTSW	1	83,183,685 (GRCm39)	missense	probably null	1.00
Z1176:Daw1	UTSW	1	83,186,976 (GRCm39)	missense	probably damaging	1.00
Z1176:Daw1	UTSW	1	83,161,021 (GRCm39)	missense	probably damaging	1.00
Z1176:Daw1	UTSW	1	83,158,112 (GRCm39)	missense	probably damaging	0.99
Z1177:Daw1	UTSW	1	83,187,935 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCGTTATCAGTTCACTGGGATTGC -3'
(R):5'- CAGAGCCAGAACAGTTCGCTCTTC -3'

Sequencing Primer
(F):5'- GATCCAACAACTGGAAGTATTGTCC -3'
(R):5'- CAGAACAGTTCGCTCTTCAGTAAG -3'

Posted On

2014-05-09