Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Dnaaf5'

376315

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139135978-139172265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139155941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 541 (M541V)

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: M541V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: M541V

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

noncoding transcript
Transcript: ENSMUST00000127542

Predicted Effect

probably benign
Transcript: ENSMUST00000196441
AA Change: M246V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: M246V

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

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Dzip1	A	T	14: 119,114,626 (GRCm39)	V843E	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,645,203 (GRCm39)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Mbtps1	C	T	8: 120,235,667 (GRCm39)	V1004I	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Sis	T	G	3: 72,850,881 (GRCm39)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,704,668 (GRCm39)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	probably damaging	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
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
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

PCR Primer
(F):5'- AAGTTGGGGCTATAACTCAGC -3'
(R):5'- GCTTACCGTGGAAGACATTTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTCTGTAGATCAGG -3'
(R):5'- TATGTAGGCCCTGTCACTGGAAC -3'

Posted On

2016-03-17