Mutagenetix > Incidental Mutation

Incidental Mutation 'R9649:Dnaaf5'

726943

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf5

Ensembl Gene

ENSMUSG00000025857

Gene Name

dynein, axonemal assembly factor 5

Synonyms

Heatr2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R9649 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

139135978-139172265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139159909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 602 (H602Q)

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: H602Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026975
Gene: ENSMUSG00000025857
AA Change: H602Q

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: H307Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000142924
Gene: ENSMUSG00000025857
AA Change: H307Q

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: 99.7%
20x: 99.1%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	A	T	2: 173,561,706 (GRCm39)	H5L	unknown	Het
Aatk	A	G	11: 119,901,733 (GRCm39)	S888P	probably damaging	Het
Ahnak	A	T	19: 8,985,786 (GRCm39)	K2357*	probably null	Het
Arl9	T	A	5: 77,155,139 (GRCm39)	L90Q	probably damaging	Het
Atosa	A	G	9: 74,924,349 (GRCm39)	D864G	possibly damaging	Het
Atxn2	T	C	5: 121,949,055 (GRCm39)	V1144A	probably damaging	Het
Batf3	C	T	1: 190,830,623 (GRCm39)		probably benign	Het
Bltp3b	C	A	10: 89,626,593 (GRCm39)	T429K	probably benign	Het
Brpf3	G	A	17: 29,037,597 (GRCm39)	E822K	probably benign	Het
Cabin1	T	A	10: 75,575,239 (GRCm39)	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418 (GRCm38)	E424G	probably damaging	Het
Camta1	A	G	4: 151,216,004 (GRCm39)	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,840,672 (GRCm39)	N80D	possibly damaging	Het
Cdh1	A	C	8: 107,388,604 (GRCm39)	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,423,477 (GRCm39)	E35V	probably benign	Het
Cfap70	A	G	14: 20,450,546 (GRCm39)	L995P	probably damaging	Het
Col18a1	T	A	10: 76,916,673 (GRCm39)	E334V	unknown	Het
Colec12	T	A	18: 9,877,000 (GRCm39)	I741K	unknown	Het
Crot	A	G	5: 9,024,170 (GRCm39)	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036 (GRCm39)	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,460,193 (GRCm39)	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,743,160 (GRCm39)	T1001S	probably benign	Het
Dffa	G	A	4: 149,202,276 (GRCm39)	V227I	probably benign	Het
Efcab7	G	T	4: 99,761,902 (GRCm39)	K397N	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Fadd	G	A	7: 144,134,384 (GRCm39)	T167I	probably benign	Het
Fam184b	T	C	5: 45,796,484 (GRCm39)	D33G	probably damaging	Het
Fam237b	C	T	5: 5,625,549 (GRCm39)	Q82*	probably null	Het
Fam83h	G	A	15: 75,877,976 (GRCm39)	R141W	probably damaging	Het
Fanci	G	A	7: 79,076,954 (GRCm39)	R564Q	probably damaging	Het
Fat3	A	T	9: 15,908,054 (GRCm39)	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,291,918 (GRCm39)	T46A	possibly damaging	Het
Fig4	C	T	10: 41,143,763 (GRCm39)	G232D	probably benign	Het
Frem3	A	T	8: 81,341,145 (GRCm39)	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,715,472 (GRCm39)	F133L	probably benign	Het
Gata2	A	G	6: 88,179,505 (GRCm39)	N326D	probably damaging	Het
Gm7298	A	T	6: 121,764,491 (GRCm39)	T1457S	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,075 (GRCm39)	Y22F	probably benign	Het
Heatr5b	C	T	17: 79,141,524 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,066,329 (GRCm39)	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,292,450 (GRCm39)	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,331 (GRCm39)	F128S	probably benign	Het
Hs3st6	G	T	17: 24,972,226 (GRCm39)	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,212,171 (GRCm39)	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,885,171 (GRCm39)	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,637,605 (GRCm39)	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,501,666 (GRCm39)		probably null	Het
Klhl11	A	T	11: 100,363,506 (GRCm39)	S17T	probably benign	Het
Lilra6	T	C	7: 3,917,521 (GRCm39)	E158G	possibly damaging	Het
Loxl1	A	G	9: 58,220,037 (GRCm39)	W45R	probably damaging	Het
Lratd1	T	C	12: 14,200,190 (GRCm39)	N179S	probably benign	Het
Lrfn1	G	T	7: 28,166,255 (GRCm39)	V550F	probably damaging	Het
Lrp1	T	C	10: 127,409,368 (GRCm39)	K1584E	probably benign	Het
Lrp4	C	G	2: 91,338,914 (GRCm39)	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,885,478 (GRCm39)	S1480P	probably damaging	Het
Mark4	G	T	7: 19,160,015 (GRCm39)	N748K	probably benign	Het
Mrpl38	G	A	11: 116,025,900 (GRCm39)	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,864,481 (GRCm39)	T64A	probably benign	Het
Mrps2	G	A	2: 28,359,764 (GRCm39)	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,099,726 (GRCm39)	E96D		Het
Nbas	A	T	12: 13,633,417 (GRCm39)	E2274V	probably damaging	Het
Or4x13	T	C	2: 90,231,338 (GRCm39)	F111S	probably damaging	Het
Or51a8	T	C	7: 102,549,652 (GRCm39)	I26T	probably benign	Het
Or51ac3	T	C	7: 103,213,850 (GRCm39)	D212G	probably damaging	Het
Or5m10b	T	C	2: 85,699,278 (GRCm39)	L114P	possibly damaging	Het
Or5m10b	T	A	2: 85,699,819 (GRCm39)	N294K	probably damaging	Het
Or6c35	T	A	10: 129,169,368 (GRCm39)	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,900,288 (GRCm39)	D373E	probably damaging	Het
Pgd	A	C	4: 149,235,596 (GRCm39)	F395V	probably damaging	Het
Pi16	A	G	17: 29,538,363 (GRCm39)	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,381,720 (GRCm39)	T255S	probably benign	Het
Plch2	A	T	4: 155,068,516 (GRCm39)	V1370E	probably benign	Het
Plec	A	G	15: 76,067,153 (GRCm39)	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831 (GRCm38)	S22R		Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Ptk2b	C	A	14: 66,413,154 (GRCm39)	E342*	probably null	Het
Ptpn23	T	C	9: 110,215,226 (GRCm39)		probably null	Het
Rfx8	A	C	1: 39,722,850 (GRCm39)	S256A	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rnf213	A	G	11: 119,370,457 (GRCm39)	Y4753C		Het
S100a10	A	C	3: 93,471,590 (GRCm39)	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,004,317 (GRCm39)	K105R	probably benign	Het
Slc20a2	G	A	8: 23,028,900 (GRCm39)	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,526,635 (GRCm39)	T964N	probably benign	Het
Stxbp5	T	A	10: 9,774,938 (GRCm39)	I72F	probably damaging	Het
Sumf2	T	A	5: 129,891,482 (GRCm39)	M282K	possibly damaging	Het
Tle7	T	C	8: 110,837,580 (GRCm39)	F375L	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem185b	G	T	1: 119,454,613 (GRCm39)	V125L	probably benign	Het
Tmtc1	A	G	6: 148,144,714 (GRCm39)	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,223,512 (GRCm39)	Q83*	probably null	Het
Tnks	A	G	8: 35,306,089 (GRCm39)	V1162A	probably damaging	Het
Tomm70a	T	A	16: 56,961,072 (GRCm39)	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,125,875 (GRCm39)	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,708,338 (GRCm39)	N257K	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vim	T	A	2: 13,579,703 (GRCm39)	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045 (GRCm39)	M1I	probably null	Het
Zfp715	A	T	7: 42,950,653 (GRCm39)	M100K	probably benign	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	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
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
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
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'- TCTTGGTCACATAGGGAGGG -3'
(R):5'- AGCCCGGACTTTAGACCTTG -3'

Sequencing Primer
(F):5'- TCACATAGGGAGGGCGATGC -3'
(R):5'- ACTTTAGACCTTGGGGGCC -3'

Posted On

2022-10-06