Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Dnaaf5'

403407

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139135978-139172265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139147632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 399 (V399I)

Ref Sequence

ENSEMBL: ENSMUSP00000026975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026975] [ENSMUST00000196441]

AlphaFold

B9EJR8

Predicted Effect

probably benign
Transcript: ENSMUST00000026975
AA Change: V399I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: V399I

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	91	153	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
Pfam:Vac14_Fab1_bd	673	770	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196441
AA Change: V104I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: V104I

Domain	Start	End	E-Value	Type
Pfam:Vac14_Fab1_bd	378	475	4.1e-5	PFAM
Pfam:HEAT	447	477	1.7e-3	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Glmn	A	G	5: 107,709,752 (GRCm39)	C351R	probably benign	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	probably benign	Het

Other mutations in Dnaaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dnaaf5	APN	5	139,163,701 (GRCm39)	missense	probably benign	0.19
IGL00730:Dnaaf5	APN	5	139,137,423 (GRCm39)	critical splice donor site	probably null
IGL01468:Dnaaf5	APN	5	139,137,235 (GRCm39)	splice site	probably null
IGL02106:Dnaaf5	APN	5	139,137,268 (GRCm39)	missense	probably damaging	1.00
IGL02273:Dnaaf5	APN	5	139,163,671 (GRCm39)	nonsense	probably null
IGL02514:Dnaaf5	APN	5	139,159,872 (GRCm39)	splice site	probably benign
IGL02572:Dnaaf5	APN	5	139,170,384 (GRCm39)	missense	probably benign	0.00
IGL02699:Dnaaf5	APN	5	139,139,105 (GRCm39)	splice site	probably benign
PIT4142001:Dnaaf5	UTSW	5	139,171,273 (GRCm39)	missense	possibly damaging	0.91
PIT4283001:Dnaaf5	UTSW	5	139,151,917 (GRCm39)	missense	probably benign	0.26
R0458:Dnaaf5	UTSW	5	139,147,633 (GRCm39)	missense	possibly damaging	0.47
R2060:Dnaaf5	UTSW	5	139,163,758 (GRCm39)	missense	probably damaging	1.00
R2162:Dnaaf5	UTSW	5	139,167,320 (GRCm39)	missense	possibly damaging	0.46
R3833:Dnaaf5	UTSW	5	139,167,320 (GRCm39)	missense	possibly damaging	0.46
R3944:Dnaaf5	UTSW	5	139,138,679 (GRCm39)	start gained	probably benign
R4438:Dnaaf5	UTSW	5	139,149,147 (GRCm39)	missense	probably damaging	1.00
R4534:Dnaaf5	UTSW	5	139,137,282 (GRCm39)	nonsense	probably null
R4576:Dnaaf5	UTSW	5	139,171,394 (GRCm39)	missense	probably damaging	0.98
R4581:Dnaaf5	UTSW	5	139,170,440 (GRCm39)	missense	probably damaging	1.00
R4715:Dnaaf5	UTSW	5	139,163,755 (GRCm39)	missense	probably damaging	0.99
R4791:Dnaaf5	UTSW	5	139,170,405 (GRCm39)	missense	possibly damaging	0.56
R4868:Dnaaf5	UTSW	5	139,155,941 (GRCm39)	missense	probably benign	0.01
R5011:Dnaaf5	UTSW	5	139,149,012 (GRCm39)	missense	probably damaging	1.00
R5074:Dnaaf5	UTSW	5	139,159,962 (GRCm39)	missense	probably damaging	1.00
R5137:Dnaaf5	UTSW	5	139,167,215 (GRCm39)	missense	probably damaging	1.00
R5309:Dnaaf5	UTSW	5	139,138,617 (GRCm39)	missense	probably damaging	0.99
R5312:Dnaaf5	UTSW	5	139,138,617 (GRCm39)	missense	probably damaging	0.99
R6632:Dnaaf5	UTSW	5	139,156,088 (GRCm39)	missense	probably benign	0.04
R6863:Dnaaf5	UTSW	5	139,137,351 (GRCm39)	missense	probably damaging	0.96
R7292:Dnaaf5	UTSW	5	139,136,072 (GRCm39)	missense	unknown
R7439:Dnaaf5	UTSW	5	139,151,868 (GRCm39)	missense	probably damaging	1.00
R7571:Dnaaf5	UTSW	5	139,155,963 (GRCm39)	missense	possibly damaging	0.73
R7679:Dnaaf5	UTSW	5	139,136,392 (GRCm39)	missense	unknown
R7706:Dnaaf5	UTSW	5	139,138,596 (GRCm39)	missense	probably damaging	1.00
R7867:Dnaaf5	UTSW	5	139,147,565 (GRCm39)	missense	probably damaging	1.00
R8191:Dnaaf5	UTSW	5	139,167,250 (GRCm39)	missense	probably benign	0.06
R8354:Dnaaf5	UTSW	5	139,147,614 (GRCm39)	frame shift	probably null
R8355:Dnaaf5	UTSW	5	139,147,614 (GRCm39)	frame shift	probably null
R8990:Dnaaf5	UTSW	5	139,155,951 (GRCm39)	missense	probably damaging	1.00
R9178:Dnaaf5	UTSW	5	139,138,652 (GRCm39)	missense	probably damaging	1.00
R9447:Dnaaf5	UTSW	5	139,163,743 (GRCm39)	missense	probably damaging	0.96
R9646:Dnaaf5	UTSW	5	139,151,832 (GRCm39)	missense	probably benign	0.00
R9649:Dnaaf5	UTSW	5	139,159,909 (GRCm39)	missense	probably benign	0.00
X0020:Dnaaf5	UTSW	5	139,149,075 (GRCm39)	missense	probably damaging	0.99
Z1177:Dnaaf5	UTSW	5	139,171,340 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnaaf5	UTSW	5	139,171,297 (GRCm39)	missense	probably benign	0.04
Z1177:Dnaaf5	UTSW	5	139,163,730 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-07-22