Mutagenetix > Incidental Mutation

Incidental Mutation 'R1943:Daw1'

216340

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

039961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1943 (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 83186987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 371 (I371F)

Ref Sequence

ENSEMBL: ENSMUSP00000067583 (fasta)

Gene Model

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

AlphaFold

D3Z7A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065403
AA Change: I371F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: I371F

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

possibly damaging
Transcript: ENSMUST00000065436
AA Change: I266F

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: I266F

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

possibly damaging
Transcript: ENSMUST00000113436
AA Change: I266F

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: I266F

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

probably benign
Transcript: ENSMUST00000149342

SMART Domains

Protein: ENSMUSP00000117796
Gene: ENSMUSG00000053161

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178732

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,506 (GRCm39)	N1017S	possibly damaging	Het
Abca8a	T	C	11: 109,960,689 (GRCm39)	I610V	probably benign	Het
Acp5	C	T	9: 22,040,900 (GRCm39)	V108M	probably damaging	Het
Adam23	T	C	1: 63,516,916 (GRCm39)		probably null	Het
Adam34	T	A	8: 44,103,864 (GRCm39)	T594S	possibly damaging	Het
Adam34	A	T	8: 44,104,852 (GRCm39)	N264K	probably damaging	Het
Arsa	G	A	15: 89,357,742 (GRCm39)	T407I	probably damaging	Het
Bicc1	A	G	10: 70,995,353 (GRCm39)	S32P	probably damaging	Het
Cacna1i	T	A	15: 80,279,245 (GRCm39)	D1995E	probably benign	Het
Cemip2	G	A	19: 21,825,404 (GRCm39)		probably null	Het
Chst15	A	T	7: 131,864,579 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,542,128 (GRCm39)	F754I	probably benign	Het
Cpz	C	T	5: 35,669,772 (GRCm39)	E302K	probably damaging	Het
Dennd1b	C	A	1: 139,096,690 (GRCm39)		probably benign	Het
Dhtkd1	T	G	2: 5,937,293 (GRCm39)	Q73P	probably benign	Het
Dmgdh	T	C	13: 93,847,878 (GRCm39)	I525T	probably benign	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc3	A	G	18: 32,379,663 (GRCm39)	Y290C	probably damaging	Het
Fh1	C	T	1: 175,437,344 (GRCm39)	V252I	probably benign	Het
Gm13199	C	T	2: 5,867,517 (GRCm39)		probably benign	Het
Il1rn	T	C	2: 24,238,611 (GRCm39)	S82P	possibly damaging	Het
Lama4	T	C	10: 38,973,134 (GRCm39)	V1567A	possibly damaging	Het
Lamtor4	A	G	5: 138,254,054 (GRCm39)		probably null	Het
Llgl1	A	G	11: 60,596,842 (GRCm39)	N148D	probably benign	Het
Lmo7	G	T	14: 102,139,738 (GRCm39)	G774V	probably damaging	Het
Luzp2	A	T	7: 54,914,050 (GRCm39)	K293M	possibly damaging	Het
Mknk1	T	C	4: 115,720,223 (GRCm39)	V83A	probably damaging	Het
Mug2	T	C	6: 122,056,598 (GRCm39)	V1181A	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Or1ad8	A	G	11: 50,898,502 (GRCm39)	I234M	probably benign	Het
Or2aj4	A	T	16: 19,385,187 (GRCm39)	W149R	probably benign	Het
Osbpl3	A	G	6: 50,297,054 (GRCm39)	I548T	probably benign	Het
Parp14	A	G	16: 35,656,499 (GRCm39)	Y1676H	probably damaging	Het
Phtf1	A	T	3: 103,901,198 (GRCm39)	K416*	probably null	Het
Pmp2	T	C	3: 10,247,570 (GRCm39)	T40A	probably benign	Het
Ptpra	T	C	2: 130,386,024 (GRCm39)	M541T	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rdh14	T	C	12: 10,441,162 (GRCm39)	V108A	probably benign	Het
Rnf38	A	T	4: 44,138,748 (GRCm39)	H248Q	probably damaging	Het
Rsph6a	A	C	7: 18,808,001 (GRCm39)	Y388S	probably damaging	Het
Ryr2	T	C	13: 11,746,609 (GRCm39)	D1981G	probably benign	Het
Sf3a3	A	G	4: 124,609,694 (GRCm39)	K97E	possibly damaging	Het
Shisa9	A	G	16: 12,085,620 (GRCm39)	T394A	probably benign	Het
Slc43a2	T	A	11: 75,436,567 (GRCm39)		probably null	Het
Slc45a1	A	G	4: 150,728,734 (GRCm39)	F23S	probably benign	Het
Slc7a10	T	A	7: 34,899,723 (GRCm39)	V435E	probably benign	Het
Snx15	A	G	19: 6,178,096 (GRCm39)	Y28H	probably damaging	Het
Spef2	T	G	15: 9,663,280 (GRCm39)	K834Q	possibly damaging	Het
Tdpoz2	G	T	3: 93,559,230 (GRCm39)	Y247*	probably null	Het
Tedc2	G	A	17: 24,436,923 (GRCm39)	R271W	possibly damaging	Het
Tfr2	C	A	5: 137,577,183 (GRCm39)	H378Q	probably benign	Het
Tigit	T	A	16: 43,469,581 (GRCm39)	H170L	probably benign	Het
Tmem62	A	T	2: 120,817,107 (GRCm39)	Q91L	probably benign	Het
Tmtc1	G	T	6: 148,327,416 (GRCm39)	C32*	probably null	Het
Txndc12	G	A	4: 108,713,407 (GRCm39)	V90I	probably benign	Het
Vmn2r93	C	A	17: 18,546,063 (GRCm39)	T645K	probably benign	Het
Vmn2r96	C	T	17: 18,806,664 (GRCm39)	T345I	probably benign	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Xirp2	A	G	2: 67,342,959 (GRCm39)	I1733M	probably benign	Het
Zfp512b	T	C	2: 181,230,208 (GRCm39)	H516R	probably damaging	Het
Zfp606	T	C	7: 12,227,615 (GRCm39)	S521P	probably damaging	Het
Zfp715	A	T	7: 42,949,054 (GRCm39)	V302E	possibly damaging	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
R1678:Daw1	UTSW	1	83,161,087 (GRCm39)	missense	probably damaging	1.00
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'- TCCCACCAGGAAGAAATCGTTC -3'
(R):5'- AGCCGAGGTCAACTGTGAAC -3'

Sequencing Primer
(F):5'- ACCCAGACTCAACCTGTT -3'
(R):5'- GGTCAACTGTGAACTCCTTTTAG -3'

Posted On

2014-08-01