Mutagenetix > Incidental Mutation

Incidental Mutation 'R5313:Dnaaf9'

405682

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf9

Ensembl Gene

ENSMUSG00000027309

Gene Name

dynein axonemal assembly factor 9

Synonyms

4930402H24Rik

MMRRC Submission

042896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130551188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1027 (E1027K)

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: E1158K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: E1158K

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: E1027K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: E1027K

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

noncoding transcript
Transcript: ENSMUST00000122745

Predicted Effect

probably benign
Transcript: ENSMUST00000138758

Predicted Effect

probably benign
Transcript: ENSMUST00000139684

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,022,603 (GRCm39)	C519R	probably damaging	Het
Adgra3	A	T	5: 50,118,651 (GRCm39)	S966T	probably benign	Het
Adgrl2	A	G	3: 148,529,349 (GRCm39)	Y1115H	probably damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Arhgef17	A	C	7: 100,578,131 (GRCm39)	L939W	probably damaging	Het
Arhgef18	A	G	8: 3,501,629 (GRCm39)		probably null	Het
Armh3	G	A	19: 45,807,414 (GRCm39)	R661W	probably damaging	Het
Cacna1d	A	C	14: 30,068,798 (GRCm39)	I147S	probably benign	Het
Cdc42bpa	T	G	1: 179,911,998 (GRCm39)	D525E	probably benign	Het
Cdh6	T	A	15: 13,034,723 (GRCm39)	I646F	probably damaging	Het
Col6a5	T	G	9: 105,822,743 (GRCm39)	I205L	unknown	Het
Cpox	T	A	16: 58,498,311 (GRCm39)	Y381*	probably null	Het
Ctsc	T	C	7: 87,958,761 (GRCm39)	V347A	probably damaging	Het
Ephb6	A	T	6: 41,593,727 (GRCm39)	T537S	possibly damaging	Het
Fam135a	T	C	1: 24,067,666 (GRCm39)	I168V	possibly damaging	Het
Fam234b	T	A	6: 135,186,185 (GRCm39)	D64E	possibly damaging	Het
Fgfr2	A	T	7: 129,842,970 (GRCm39)	D157E	probably benign	Het
Fstl5	A	T	3: 76,500,812 (GRCm39)	I414F	possibly damaging	Het
Glp2r	T	C	11: 67,648,357 (GRCm39)	D115G	probably damaging	Het
Gpr85	A	T	6: 13,836,301 (GRCm39)	V201D	probably damaging	Het
Ido1	A	C	8: 25,077,794 (GRCm39)	I91S	probably damaging	Het
Ism2	G	A	12: 87,326,536 (GRCm39)	P468S	probably damaging	Het
Map2	A	G	1: 66,464,538 (GRCm39)	K1643E	probably damaging	Het
Or10ak8	A	G	4: 118,773,995 (GRCm39)	V223A	probably benign	Het
Or4c122	C	T	2: 89,079,721 (GRCm39)	E106K	probably benign	Het
Or5b112	G	A	19: 13,319,429 (GRCm39)	M102I	probably benign	Het
Or6c2	C	T	10: 129,362,950 (GRCm39)	P285S	probably damaging	Het
Ppargc1a	A	G	5: 51,615,581 (GRCm39)		probably benign	Het
Prpf4b	T	C	13: 35,078,532 (GRCm39)	V714A	probably damaging	Het
Septin8	C	T	11: 53,426,809 (GRCm39)	T190I	probably damaging	Het
Slc18a2	A	G	19: 59,282,275 (GRCm39)	K494R	probably benign	Het
Slc34a2	A	T	5: 53,226,681 (GRCm39)	K542N	probably damaging	Het
Snd1	C	A	6: 28,668,600 (GRCm39)	T429K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Timm10b	T	C	7: 105,290,287 (GRCm39)	L60P	probably damaging	Het
Tmprss11a	A	T	5: 86,559,674 (GRCm39)	Y373N	probably damaging	Het
Usp17la	T	A	7: 104,510,457 (GRCm39)	V354D	probably benign	Het
Zbtb7b	G	T	3: 89,288,626 (GRCm39)	T64K	probably 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
R5405:Dnaaf9	UTSW	2	130,554,380 (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'- ACATGTACTACACTGTCAGGCAC -3'
(R):5'- ACAAGATCCCCAGGATAAGCTG -3'

Sequencing Primer
(F):5'- ATCTCTGGTAGGCACAAG -3'
(R):5'- CCAGGATAAGCTGCCCTTC -3'

Posted On

2016-07-22