Mutagenetix > Incidental Mutation

Incidental Mutation 'R5405:Dnaaf9'

478305

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf9

Ensembl Gene

ENSMUSG00000027309

Gene Name

dynein axonemal assembly factor 9

Synonyms

4930402H24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130554380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 890 (S890P)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044766
AA Change: S1021P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: S1021P

Domain	Start	End	E-Value	Type
low complexity region	134	145	N/A	INTRINSIC
low complexity region	463	473	N/A	INTRINSIC
low complexity region	533	545	N/A	INTRINSIC
coiled coil region	1143	1171	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119422
AA Change: S890P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: S890P

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	332	342	N/A	INTRINSIC
low complexity region	402	414	N/A	INTRINSIC
coiled coil region	1012	1040	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000138758
AA Change: S160P

Predicted Effect

unknown
Transcript: ENSMUST00000139684
AA Change: F85S

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,179 (GRCm39)	T298S	probably benign	Het
Atad2b	G	A	12: 4,990,098 (GRCm39)	R141Q	possibly damaging	Het
B3glct	A	G	5: 149,632,818 (GRCm39)	Q56R	probably damaging	Het
Cdc42bpa	A	G	1: 179,894,894 (GRCm39)	Y358C	probably damaging	Het
Cdc42bpa	A	G	1: 179,966,085 (GRCm39)	E1136G	possibly damaging	Het
Ceacam1	A	T	7: 25,163,290 (GRCm39)	N314K	probably benign	Het
Ces1g	A	T	8: 94,032,496 (GRCm39)	I488N	probably benign	Het
Chd6	C	T	2: 160,807,310 (GRCm39)	R1968K	probably benign	Het
Cyp27b1	C	T	10: 126,886,255 (GRCm39)	T312I	possibly damaging	Het
Cyp39a1	C	T	17: 43,987,831 (GRCm39)	A99V	probably damaging	Het
Dipk1a	C	T	5: 108,057,827 (GRCm39)	V199I	probably benign	Het
Efcab3	A	T	11: 104,612,018 (GRCm39)	D620V	probably benign	Het
Elapor1	A	T	3: 108,375,102 (GRCm39)	C588*	probably null	Het
Erc1	A	T	6: 119,801,905 (GRCm39)	S37R	probably damaging	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,013,644 (GRCm39)	I43V	possibly damaging	Het
Ins2	C	T	7: 142,233,134 (GRCm39)	R46H	probably damaging	Het
Krt77	T	C	15: 101,769,523 (GRCm39)	I413V	probably damaging	Het
Lpin3	A	G	2: 160,745,849 (GRCm39)	D660G	probably damaging	Het
Mpp3	T	C	11: 101,901,047 (GRCm39)	Q318R	probably benign	Het
Mpzl2	T	C	9: 44,958,503 (GRCm39)	S80P	probably damaging	Het
Mrpl2	T	C	17: 46,960,036 (GRCm39)		probably null	Het
Mrpl48	T	C	7: 100,209,000 (GRCm39)	Y108C	probably damaging	Het
Ndufaf7	C	A	17: 79,246,044 (GRCm39)	F92L	probably damaging	Het
Or14c43	T	C	7: 86,115,383 (GRCm39)	Y255H	probably damaging	Het
Or6c8	T	A	10: 128,915,265 (GRCm39)	D189V	probably damaging	Het
Rec114	T	C	9: 58,567,624 (GRCm39)	S121G	probably benign	Het
Rnase10	A	T	14: 51,247,317 (GRCm39)	I195F	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rreb1	A	G	13: 38,133,087 (GRCm39)	E1754G	probably damaging	Het
Sec31a	G	T	5: 100,531,657 (GRCm39)	C238*	probably null	Het
Slc12a6	T	C	2: 112,169,724 (GRCm39)	V337A	probably damaging	Het
Slc25a37	A	G	14: 69,482,344 (GRCm39)	V319A	possibly damaging	Het
Slc26a10	T	C	10: 127,010,864 (GRCm39)	Y456C	probably benign	Het
Slc27a3	G	A	3: 90,294,382 (GRCm39)	T463I	probably benign	Het
Slc66a3	A	G	12: 17,043,315 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,524,149 (GRCm39)	D781E	probably benign	Het
Tle1	T	C	4: 72,057,208 (GRCm39)		probably benign	Het
Tmem229b-ps	T	C	10: 53,351,325 (GRCm39)		noncoding transcript	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r71	A	G	7: 85,268,622 (GRCm39)	D275G	probably benign	Het
Wdr1	T	C	5: 38,692,543 (GRCm39)	T121A	probably benign	Het
Zdhhc19	C	T	16: 32,325,869 (GRCm39)	R240C	possibly damaging	Het

Other mutations in Dnaaf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Dnaaf9	APN	2	130,626,377 (GRCm39)	missense	probably benign	0.00
IGL01093:Dnaaf9	APN	2	130,619,156 (GRCm39)	missense	probably benign	0.01
IGL01111:Dnaaf9	APN	2	130,578,518 (GRCm39)	missense	possibly damaging	0.66
IGL01146:Dnaaf9	APN	2	130,612,591 (GRCm39)	critical splice donor site	probably null
IGL01346:Dnaaf9	APN	2	130,633,766 (GRCm39)	splice site	probably benign
IGL01548:Dnaaf9	APN	2	130,656,179 (GRCm39)	missense	probably damaging	1.00
IGL02339:Dnaaf9	APN	2	130,581,385 (GRCm39)	missense	probably damaging	0.97
IGL02637:Dnaaf9	APN	2	130,656,227 (GRCm39)	intron	probably benign
IGL02926:Dnaaf9	APN	2	130,554,286 (GRCm39)	missense	probably benign	0.00
IGL02978:Dnaaf9	APN	2	130,569,082 (GRCm39)	missense	probably damaging	0.99
IGL03126:Dnaaf9	APN	2	130,633,915 (GRCm39)	splice site	probably null
IGL03387:Dnaaf9	APN	2	130,559,200 (GRCm39)	missense	probably damaging	1.00
best_times	UTSW	2	130,578,496 (GRCm39)	missense	probably damaging	0.99
Hard_times	UTSW	2	130,555,390 (GRCm39)	missense	probably benign	0.16
worst_times	UTSW	2	130,555,334 (GRCm39)	missense	probably damaging	1.00
FR4304:Dnaaf9	UTSW	2	130,612,668 (GRCm39)	small insertion	probably benign
FR4342:Dnaaf9	UTSW	2	130,612,662 (GRCm39)	small insertion	probably benign
FR4589:Dnaaf9	UTSW	2	130,612,672 (GRCm39)	small insertion	probably benign
FR4589:Dnaaf9	UTSW	2	130,612,665 (GRCm39)	small insertion	probably benign
FR4737:Dnaaf9	UTSW	2	130,612,672 (GRCm39)	small insertion	probably benign
FR4976:Dnaaf9	UTSW	2	130,612,673 (GRCm39)	small insertion	probably benign
FR4976:Dnaaf9	UTSW	2	130,612,662 (GRCm39)	small insertion	probably benign
FR4976:Dnaaf9	UTSW	2	130,612,659 (GRCm39)	small insertion	probably benign
R0034:Dnaaf9	UTSW	2	130,578,492 (GRCm39)	missense	probably damaging	1.00
R0034:Dnaaf9	UTSW	2	130,578,492 (GRCm39)	missense	probably damaging	1.00
R0357:Dnaaf9	UTSW	2	130,554,866 (GRCm39)	splice site	probably benign
R0379:Dnaaf9	UTSW	2	130,627,466 (GRCm39)	splice site	probably benign
R0515:Dnaaf9	UTSW	2	130,582,408 (GRCm39)	missense	probably damaging	1.00
R0576:Dnaaf9	UTSW	2	130,555,390 (GRCm39)	missense	probably benign	0.16
R0811:Dnaaf9	UTSW	2	130,555,334 (GRCm39)	missense	probably damaging	1.00
R0812:Dnaaf9	UTSW	2	130,555,334 (GRCm39)	missense	probably damaging	1.00
R1334:Dnaaf9	UTSW	2	130,617,642 (GRCm39)	splice site	probably null
R1485:Dnaaf9	UTSW	2	130,590,603 (GRCm39)	critical splice donor site	probably null
R1486:Dnaaf9	UTSW	2	130,579,338 (GRCm39)	missense	probably damaging	1.00
R1670:Dnaaf9	UTSW	2	130,554,299 (GRCm39)	missense	probably damaging	1.00
R1678:Dnaaf9	UTSW	2	130,656,193 (GRCm39)	missense	probably damaging	0.99
R1700:Dnaaf9	UTSW	2	130,551,858 (GRCm39)	missense	probably damaging	0.99
R1742:Dnaaf9	UTSW	2	130,582,315 (GRCm39)	splice site	probably null
R2046:Dnaaf9	UTSW	2	130,652,837 (GRCm39)	missense	possibly damaging	0.61
R2374:Dnaaf9	UTSW	2	130,662,494 (GRCm39)	missense	probably damaging	1.00
R3878:Dnaaf9	UTSW	2	130,620,423 (GRCm39)	missense	possibly damaging	0.92
R3907:Dnaaf9	UTSW	2	130,578,496 (GRCm39)	missense	probably damaging	0.99
R4467:Dnaaf9	UTSW	2	130,609,567 (GRCm39)	missense	probably damaging	0.96
R4931:Dnaaf9	UTSW	2	130,583,793 (GRCm39)	missense	possibly damaging	0.58
R5098:Dnaaf9	UTSW	2	130,640,101 (GRCm39)	missense	probably damaging	0.99
R5191:Dnaaf9	UTSW	2	130,579,323 (GRCm39)	missense	possibly damaging	0.68
R5313:Dnaaf9	UTSW	2	130,551,188 (GRCm39)	missense	probably damaging	1.00
R5436:Dnaaf9	UTSW	2	130,606,419 (GRCm39)	missense	probably benign	0.16
R5522:Dnaaf9	UTSW	2	130,656,222 (GRCm39)	intron	probably benign
R5783:Dnaaf9	UTSW	2	130,581,003 (GRCm39)	missense	possibly damaging	0.59
R5931:Dnaaf9	UTSW	2	130,656,109 (GRCm39)	missense	probably damaging	1.00
R6145:Dnaaf9	UTSW	2	130,620,393 (GRCm39)	missense	probably benign
R6732:Dnaaf9	UTSW	2	130,652,740 (GRCm39)	critical splice donor site	probably null
R6938:Dnaaf9	UTSW	2	130,617,673 (GRCm39)	missense	probably benign	0.00
R7161:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7193:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7194:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7233:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7234:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7238:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7239:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7268:Dnaaf9	UTSW	2	130,648,708 (GRCm39)	missense	unknown
R7807:Dnaaf9	UTSW	2	130,552,785 (GRCm39)	missense	probably damaging	1.00
R7904:Dnaaf9	UTSW	2	130,633,923 (GRCm39)	splice site	probably null
R7999:Dnaaf9	UTSW	2	130,579,372 (GRCm39)	missense	probably benign	0.00
R8047:Dnaaf9	UTSW	2	130,617,019 (GRCm39)	missense	probably damaging	0.98
R8286:Dnaaf9	UTSW	2	130,559,248 (GRCm39)	missense	probably damaging	1.00
R8315:Dnaaf9	UTSW	2	130,612,655 (GRCm39)	small deletion	probably benign
R8439:Dnaaf9	UTSW	2	130,612,621 (GRCm39)	missense	probably damaging	1.00
R8925:Dnaaf9	UTSW	2	130,579,300 (GRCm39)	nonsense	probably null
R8927:Dnaaf9	UTSW	2	130,579,300 (GRCm39)	nonsense	probably null
R9070:Dnaaf9	UTSW	2	130,654,793 (GRCm39)	missense	possibly damaging	0.61
R9367:Dnaaf9	UTSW	2	130,581,380 (GRCm39)	missense	probably benign	0.00
R9558:Dnaaf9	UTSW	2	130,617,660 (GRCm39)	missense	probably damaging	1.00
R9565:Dnaaf9	UTSW	2	130,648,711 (GRCm39)	missense	unknown
R9758:Dnaaf9	UTSW	2	130,554,938 (GRCm39)	missense	probably damaging	0.99
RF027:Dnaaf9	UTSW	2	130,612,664 (GRCm39)	small insertion	probably benign
RF038:Dnaaf9	UTSW	2	130,612,664 (GRCm39)	nonsense	probably null
RF046:Dnaaf9	UTSW	2	130,612,654 (GRCm39)	nonsense	probably null
RF048:Dnaaf9	UTSW	2	130,612,654 (GRCm39)	nonsense	probably null
Z1177:Dnaaf9	UTSW	2	130,552,787 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGGTCATACTCAGGCTCAGC -3'
(R):5'- CCTCTGTCTAGGTAACAGTGTG -3'

Sequencing Primer
(F):5'- ACCTGCTTAGCTGACTGTCGAAG -3'
(R):5'- CTAGGTAACAGTGTGTCTGACCAC -3'

Posted On

2017-06-23