Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02926:Dnaaf9'

363888

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130554286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 921 (R921K)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044766
AA Change: R1052K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: R1052K

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 benign
Transcript: ENSMUST00000119422
AA Change: R921K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: R921K

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: R191K

Predicted Effect

probably benign
Transcript: ENSMUST00000139684

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	T	6: 85,618,432 (GRCm39)	D2826V	probably damaging	Het
Alpl	C	T	4: 137,469,945 (GRCm39)	A460T	probably damaging	Het
C2cd5	A	G	6: 142,976,963 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,949,686 (GRCm39)	R1468Q	possibly damaging	Het
Calu	A	G	6: 29,366,919 (GRCm39)	T44A	possibly damaging	Het
Cgn	T	C	3: 94,685,326 (GRCm39)	K399R	probably benign	Het
Ciao3	A	G	17: 26,001,128 (GRCm39)	H460R	probably benign	Het
Cyp2t4	G	A	7: 26,857,228 (GRCm39)	V356M	probably damaging	Het
D430041D05Rik	T	C	2: 104,044,604 (GRCm39)	D683G	probably damaging	Het
Dhcr24	T	A	4: 106,443,552 (GRCm39)	I410N	probably damaging	Het
Dmap1	T	A	4: 117,539,085 (GRCm39)	E17V	probably benign	Het
Dnah7a	A	G	1: 53,535,109 (GRCm39)	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,554,741 (GRCm39)	K280N	probably damaging	Het
Espl1	T	A	15: 102,208,290 (GRCm39)	M432K	probably damaging	Het
Fgf5	C	A	5: 98,409,874 (GRCm39)	A141E	probably damaging	Het
Fto	T	A	8: 92,211,795 (GRCm39)	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,007,694 (GRCm39)	D122G	probably damaging	Het
Ints11	T	C	4: 155,972,568 (GRCm39)		probably null	Het
Jarid2	A	G	13: 45,056,405 (GRCm39)	Q398R	probably benign	Het
Kcnh1	A	G	1: 191,959,208 (GRCm39)	D254G	probably damaging	Het
Lamc3	C	T	2: 31,825,737 (GRCm39)		probably benign	Het
Lamc3	C	T	2: 31,825,738 (GRCm39)		probably benign	Het
Ltbp4	T	C	7: 27,028,297 (GRCm39)		probably null	Het
Mcm6	A	G	1: 128,267,119 (GRCm39)	Y575H	probably damaging	Het
Myh9	A	C	15: 77,671,826 (GRCm39)	Y422D	probably damaging	Het
Or4c35	T	C	2: 89,808,506 (GRCm39)	L128P	probably damaging	Het
Or5b105	A	C	19: 13,080,187 (GRCm39)	N160K	possibly damaging	Het
Or8b47	T	C	9: 38,435,021 (GRCm39)		probably benign	Het
Plcb1	T	C	2: 135,206,682 (GRCm39)		probably benign	Het
Pmfbp1	A	G	8: 110,246,881 (GRCm39)	E251G	probably damaging	Het
Psg27	A	T	7: 18,291,054 (GRCm39)	V383E	probably damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,009,333 (GRCm39)	V734A	probably benign	Het
Rspry1	T	A	8: 95,376,439 (GRCm39)	N320K	probably damaging	Het
Ryr1	A	T	7: 28,760,965 (GRCm39)	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,774,721 (GRCm39)	W1145L	probably damaging	Het
Scel	A	T	14: 103,813,683 (GRCm39)	R319*	probably null	Het
Stxbp2	C	T	8: 3,685,629 (GRCm39)	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410 (GRCm39)	N106I	possibly damaging	Het
Trim13	G	T	14: 61,842,693 (GRCm39)		probably null	Het
Tspan31	T	G	10: 126,904,778 (GRCm39)		probably null	Het
Usp36	C	T	11: 118,155,609 (GRCm39)	V723M	probably benign	Het
Utrn	A	T	10: 12,566,504 (GRCm39)	N1219K	probably damaging	Het
Vcan	G	T	13: 89,836,742 (GRCm39)	T2934K	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
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
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

Posted On

2015-12-18