Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Dnaaf5'

576816

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139135978-139172265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 139151868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 506 (C506W)

Ref Sequence

ENSEMBL: ENSMUSP00000026975 (fasta)

Gene Model

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

AlphaFold

B9EJR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026975
AA Change: C506W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: C506W

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 damaging
Transcript: ENSMUST00000196441
AA Change: C211W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: C211W

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	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
R5215:Dnaaf5	UTSW	5	139,147,632 (GRCm39)	missense	probably benign	0.00
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
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

PCR Primer
(F):5'- TCTGAAGCTTCCCTGTTGGC -3'
(R):5'- CAGGTGTGAAATTCAACCATGC -3'

Sequencing Primer
(F):5'- CTGTGTTCAGGTCAAGGCC -3'
(R):5'- GGTGTGAAATTCAACCATGCTAAAG -3'

Posted On

2019-10-07