Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Dnaaf5'

353941

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139150223-139186510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139178000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 671 (I671F)

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: I671F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: I671F

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 damaging
Transcript: ENSMUST00000196441
AA Change: I376F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: I376F

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

0.8152

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,816,882	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,398,876	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,774,653	R179*	probably null	Het
Arap2	G	T	5: 62,749,094	T194K	probably benign	Het
Atf2	C	A	2: 73,823,300	V282F	probably damaging	Het
Atp1a1	T	C	3: 101,591,806	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,877,179	S258G	possibly damaging	Het
Bptf	G	T	11: 107,047,181	H2695N	probably damaging	Het
Casq2	T	C	3: 102,110,244	V80A	probably benign	Het
Ccdc130	A	G	8: 84,263,874	I43T	probably damaging	Het
Cdc42ep3	G	A	17: 79,335,458	A11V	probably benign	Het
Cdh4	A	T	2: 179,780,467	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,361,835	*191L	probably null	Het
Cfdp1	G	A	8: 111,830,891	T206I	probably benign	Het
Cgn	C	A	3: 94,779,438	G185W	probably damaging	Het
Clpx	A	C	9: 65,312,114	R231S	possibly damaging	Het
Copg1	T	A	6: 87,912,286	L870*	probably null	Het
Cyp4a10	A	T	4: 115,525,338	D275V	probably benign	Het
Dip2a	T	C	10: 76,296,406	T504A	probably benign	Het
Dmxl2	A	C	9: 54,446,405		probably null	Het
Dnah14	A	G	1: 181,757,223	D3173G	probably damaging	Het
Dock2	T	C	11: 34,294,118	Y1074C	probably damaging	Het
Dthd1	A	C	5: 62,888,187	M765L	probably benign	Het
E2f3	A	C	13: 29,911,275	C220W	probably damaging	Het
Elf3	C	T	1: 135,257,752	S8N	probably damaging	Het
F2rl1	A	T	13: 95,513,267	V369E	probably damaging	Het
Fam214a	T	A	9: 75,012,968	W799R	probably damaging	Het
Fpr-rs7	C	T	17: 20,113,428	G267R	probably benign	Het
Ggact	A	T	14: 122,891,635	L56Q	possibly damaging	Het
Gm10698	A	T	9: 33,728,488		noncoding transcript	Het
Gm5546	T	C	3: 104,366,508		noncoding transcript	Het
Gm8267	A	G	14: 44,717,835	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,815,412	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,423,017	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,770,844	L146P	probably damaging	Het
Htr1b	T	C	9: 81,631,510	D348G	possibly damaging	Het
Ifi205	T	C	1: 174,028,321	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,992,591	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,706,253	L169P	probably damaging	Het
Klf17	T	C	4: 117,760,536	D208G	probably benign	Het
Ltn1	A	G	16: 87,418,494	F418L	probably damaging	Het
Map4k4	G	A	1: 40,019,564	V1040I	probably damaging	Het
Mark1	A	G	1: 184,912,132	V445A	probably benign	Het
Med11	T	C	11: 70,453,196	I114T	probably benign	Het
Moxd2	A	G	6: 40,887,247	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,616,358		probably benign	Het
Mrps27	A	G	13: 99,414,815		probably null	Het
Nop58	T	C	1: 59,696,026	V75A	probably benign	Het
Olfr1290	A	C	2: 111,489,744	M138R	probably benign	Het
Olfr1339	T	C	4: 118,734,655	L42P	probably damaging	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr325	A	G	11: 58,581,429	D195G	probably damaging	Het
Olfr832	A	G	9: 18,945,446	H266R	probably benign	Het
Olfr844	C	A	9: 19,319,147	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,516	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,126,061		probably benign	Het
Prkd3	G	T	17: 78,951,937	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,107,333	T543A	probably benign	Het
Pum2	T	A	12: 8,747,272	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,693,458	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,794,039	L193P	probably damaging	Het
Rif1	T	C	2: 52,073,139		probably benign	Het
Rspo2	A	T	15: 43,075,904	C163*	probably null	Het
Sco1	A	G	11: 67,056,599	Y204C	probably damaging	Het
Shc2	T	C	10: 79,622,379	K490R	probably benign	Het
Siglec1	T	C	2: 131,074,436	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,786,090	V31A	probably damaging	Het
Smpd5	A	T	15: 76,295,693	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198		probably null	Het
Tdrd9	T	G	12: 112,041,689	S988A	probably benign	Het
Tiam2	T	A	17: 3,454,168	F982I	probably damaging	Het
Tmc3	G	A	7: 83,622,396	V919I	probably benign	Het
Tmem200c	A	T	17: 68,840,470	D16V	probably damaging	Het
Tmem37	A	T	1: 120,068,205	D47E	probably damaging	Het
Top3a	T	A	11: 60,742,997	R733*	probably null	Het
Treh	T	C	9: 44,683,318	V8A	probably benign	Het
Trim17	A	C	11: 58,968,450		probably benign	Het
Ubash3b	T	C	9: 41,016,600	K471E	probably damaging	Het
Usp8	T	A	2: 126,729,222	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,147,232	M1L	unknown	Het

Other mutations in Dnaaf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dnaaf5	APN	5	139,177,946 (GRCm38)	missense	probably benign	0.19
IGL00730:Dnaaf5	APN	5	139,151,668 (GRCm38)	critical splice donor site	probably null
IGL01468:Dnaaf5	APN	5	139,151,480 (GRCm38)	splice site	probably null
IGL02106:Dnaaf5	APN	5	139,151,513 (GRCm38)	missense	probably damaging	1.00
IGL02273:Dnaaf5	APN	5	139,177,916 (GRCm38)	nonsense	probably null
IGL02514:Dnaaf5	APN	5	139,174,117 (GRCm38)	splice site	probably benign
IGL02572:Dnaaf5	APN	5	139,184,629 (GRCm38)	missense	probably benign	0.00
IGL02699:Dnaaf5	APN	5	139,153,350 (GRCm38)	splice site	probably benign
PIT4142001:Dnaaf5	UTSW	5	139,185,518 (GRCm38)	missense	possibly damaging	0.91
PIT4283001:Dnaaf5	UTSW	5	139,166,162 (GRCm38)	missense	probably benign	0.26
R0458:Dnaaf5	UTSW	5	139,161,878 (GRCm38)	missense	possibly damaging	0.47
R2060:Dnaaf5	UTSW	5	139,178,003 (GRCm38)	missense	probably damaging	1.00
R2162:Dnaaf5	UTSW	5	139,181,565 (GRCm38)	missense	possibly damaging	0.46
R3833:Dnaaf5	UTSW	5	139,181,565 (GRCm38)	missense	possibly damaging	0.46
R3944:Dnaaf5	UTSW	5	139,152,924 (GRCm38)	start gained	probably benign
R4438:Dnaaf5	UTSW	5	139,163,392 (GRCm38)	missense	probably damaging	1.00
R4534:Dnaaf5	UTSW	5	139,151,527 (GRCm38)	nonsense	probably null
R4576:Dnaaf5	UTSW	5	139,185,639 (GRCm38)	missense	probably damaging	0.98
R4581:Dnaaf5	UTSW	5	139,184,685 (GRCm38)	missense	probably damaging	1.00
R4791:Dnaaf5	UTSW	5	139,184,650 (GRCm38)	missense	possibly damaging	0.56
R4868:Dnaaf5	UTSW	5	139,170,186 (GRCm38)	missense	probably benign	0.01
R5011:Dnaaf5	UTSW	5	139,163,257 (GRCm38)	missense	probably damaging	1.00
R5074:Dnaaf5	UTSW	5	139,174,207 (GRCm38)	missense	probably damaging	1.00
R5137:Dnaaf5	UTSW	5	139,181,460 (GRCm38)	missense	probably damaging	1.00
R5215:Dnaaf5	UTSW	5	139,161,877 (GRCm38)	missense	probably benign	0.00
R5309:Dnaaf5	UTSW	5	139,152,862 (GRCm38)	missense	probably damaging	0.99
R5312:Dnaaf5	UTSW	5	139,152,862 (GRCm38)	missense	probably damaging	0.99
R6632:Dnaaf5	UTSW	5	139,170,333 (GRCm38)	missense	probably benign	0.04
R6863:Dnaaf5	UTSW	5	139,151,596 (GRCm38)	missense	probably damaging	0.96
R7292:Dnaaf5	UTSW	5	139,150,317 (GRCm38)	missense	unknown
R7439:Dnaaf5	UTSW	5	139,166,113 (GRCm38)	missense	probably damaging	1.00
R7571:Dnaaf5	UTSW	5	139,170,208 (GRCm38)	missense	possibly damaging	0.73
R7679:Dnaaf5	UTSW	5	139,150,637 (GRCm38)	missense	unknown
R7706:Dnaaf5	UTSW	5	139,152,841 (GRCm38)	missense	probably damaging	1.00
R7867:Dnaaf5	UTSW	5	139,161,810 (GRCm38)	missense	probably damaging	1.00
R8191:Dnaaf5	UTSW	5	139,181,495 (GRCm38)	missense	probably benign	0.06
R8354:Dnaaf5	UTSW	5	139,161,859 (GRCm38)	frame shift	probably null
R8355:Dnaaf5	UTSW	5	139,161,859 (GRCm38)	frame shift	probably null
R8990:Dnaaf5	UTSW	5	139,170,196 (GRCm38)	missense	probably damaging	1.00
R9178:Dnaaf5	UTSW	5	139,152,897 (GRCm38)	missense	probably damaging	1.00
R9447:Dnaaf5	UTSW	5	139,177,988 (GRCm38)	missense	probably damaging	0.96
R9646:Dnaaf5	UTSW	5	139,166,077 (GRCm38)	missense	probably benign	0.00
R9649:Dnaaf5	UTSW	5	139,174,154 (GRCm38)	missense	probably benign	0.00
X0020:Dnaaf5	UTSW	5	139,163,320 (GRCm38)	missense	probably damaging	0.99
Z1177:Dnaaf5	UTSW	5	139,185,585 (GRCm38)	missense	probably damaging	1.00
Z1177:Dnaaf5	UTSW	5	139,185,542 (GRCm38)	missense	probably benign	0.04
Z1177:Dnaaf5	UTSW	5	139,177,975 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCATGGTTGGTGCAGCCC -3'
(R):5'- ACAGACTTCAGCCCTTTAGAGC -3'

Sequencing Primer
(F):5'- CTGAAACCACCTTGTGCAGAGG -3'
(R):5'- AGAGCTTTCTGTGCTGATTGAATGAC -3'

Posted On

2015-10-21