Mutagenetix > Incidental Mutation

Incidental Mutation 'R4467:Dnaaf9'

329216

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf9

Ensembl Gene

ENSMUSG00000027309

Gene Name

dynein axonemal assembly factor 9

Synonyms

4930402H24Rik

MMRRC Submission

041724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130609567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 372 (I372T)

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: I503T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: I503T

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: I372T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: I372T

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

probably benign
Transcript: ENSMUST00000145851
AA Change: I45T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118946
Gene: ENSMUSG00000027309
AA Change: I45T

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148924

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

98% (52/53)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Atg4a-ps	A	G	3: 103,553,171 (GRCm39)	Y57H	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	G	A	6: 118,360,808 (GRCm39)	T1220I	probably damaging	Het
Brat1	T	C	5: 140,690,826 (GRCm39)		probably benign	Het
Cds2	T	A	2: 132,136,366 (GRCm39)	Y39*	probably null	Het
Chrnd	T	A	1: 87,125,099 (GRCm39)	L384Q	probably damaging	Het
Cpa3	A	T	3: 20,282,981 (GRCm39)	Y155*	probably null	Het
Crlf1	G	A	8: 70,953,606 (GRCm39)	W260*	probably null	Het
Cux1	C	G	5: 136,341,576 (GRCm39)	E605D	probably damaging	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dmtf1	T	C	5: 9,186,085 (GRCm39)	N167S	probably damaging	Het
Dnai7	A	T	6: 145,128,944 (GRCm39)		probably null	Het
Dtx2	T	A	5: 136,040,930 (GRCm39)	W112R	probably damaging	Het
Elf3	A	G	1: 135,184,582 (GRCm39)	I138T	probably damaging	Het
F11	T	A	8: 45,694,511 (GRCm39)	I617F	probably damaging	Het
Fdps	A	T	3: 89,008,093 (GRCm39)	D8E	possibly damaging	Het
Fzd10	C	A	5: 128,678,340 (GRCm39)	T20K	probably benign	Het
Gm9978	T	A	10: 78,322,750 (GRCm39)		noncoding transcript	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Has1	C	T	17: 18,064,257 (GRCm39)	V461M	probably benign	Het
Hdac3	C	T	18: 38,085,566 (GRCm39)	G80D	probably benign	Het
Klk12	A	T	7: 43,422,807 (GRCm39)	R245W	probably damaging	Het
Lamp5	A	G	2: 135,900,940 (GRCm39)	I47V	probably damaging	Het
Or6c1b	T	C	10: 129,272,933 (GRCm39)	I84T	probably benign	Het
Ovgp1	A	G	3: 105,885,027 (GRCm39)	D122G	probably benign	Het
Piezo1	T	C	8: 123,213,135 (GRCm39)	E1875G	probably benign	Het
Pih1d1	A	G	7: 44,807,921 (GRCm39)	M132V	possibly damaging	Het
Pon2	C	T	6: 5,267,021 (GRCm39)	A241T	probably benign	Het
Prkce	A	G	17: 86,927,339 (GRCm39)	I538V	possibly damaging	Het
Rab36	C	T	10: 74,887,875 (GRCm39)	R249*	probably null	Het
Rps6kl1	C	T	12: 85,194,582 (GRCm39)	A110T	probably damaging	Het
Rsad1	T	C	11: 94,435,356 (GRCm39)	T244A	probably benign	Het
Slc22a7	T	C	17: 46,743,436 (GRCm39)	I532V	probably benign	Het
Slc2a7	T	C	4: 150,247,731 (GRCm39)	V377A	possibly damaging	Het
Slx4	A	G	16: 3,806,919 (GRCm39)	V508A	possibly damaging	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stat6	T	G	10: 127,487,097 (GRCm39)	I201M	probably damaging	Het
Stim2	T	C	5: 54,273,536 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,937,107 (GRCm39)	Y63C	probably damaging	Het
Tctn2	T	C	5: 124,758,252 (GRCm39)		noncoding transcript	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ubr5	T	A	15: 38,004,580 (GRCm39)	T1282S	probably damaging	Het
Ufl1	A	T	4: 25,254,806 (GRCm39)	I550N	probably damaging	Het
Uty	A	G	Y: 1,158,372 (GRCm39)	V557A	possibly damaging	Het
Vmn1r54	T	C	6: 90,246,253 (GRCm39)	S56P	probably damaging	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	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
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
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'- GGTGTTAATGTCTTCCTTGCATGAC -3'
(R):5'- ACCGTGTCTGAGGTCAAAG -3'

Sequencing Primer
(F):5'- CTTCCTTGCATGACTTCACAAATAAC -3'
(R):5'- CTGAGGTCAAAGGACTATGCCTTC -3'

Posted On

2015-07-21