Mutagenetix > Incidental Mutation

Incidental Mutation 'R0576:Dnaaf9'

56216

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf9

Ensembl Gene

ENSMUSG00000027309

Gene Name

dynein axonemal assembly factor 9

Synonyms

4930402H24Rik

MMRRC Submission

038766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130555390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 839 (F839L)

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: F970L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: F970L

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: F839L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: F839L

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: F109L

Predicted Effect

probably benign
Transcript: ENSMUST00000139684

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

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
Ccdc77	T	A	6: 120,308,809 (GRCm39)	L335F	probably benign	Het
Ccr3	T	A	9: 123,829,046 (GRCm39)	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,785,579 (GRCm39)	N437S	probably benign	Het
Cfh	A	G	1: 140,064,553 (GRCm39)	V365A	probably damaging	Het
Copg1	T	A	6: 87,874,945 (GRCm39)	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,353,256 (GRCm39)	I497T	possibly damaging	Het
Disp3	G	A	4: 148,326,047 (GRCm39)	T1237I	possibly damaging	Het
Dnah7a	A	T	1: 53,675,246 (GRCm39)	F360L	probably benign	Het
Dnhd1	C	T	7: 105,363,252 (GRCm39)	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,502,818 (GRCm39)	D1000G	probably damaging	Het
Emsy	A	T	7: 98,242,983 (GRCm39)	V1052D	probably damaging	Het
Ep400	A	G	5: 110,858,959 (GRCm39)		probably benign	Het
Fa2h	T	C	8: 112,082,779 (GRCm39)	H146R	probably damaging	Het
Gad1	G	A	2: 70,424,996 (GRCm39)	C430Y	probably benign	Het
Gtse1	T	C	15: 85,753,252 (GRCm39)	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,187,202 (GRCm39)	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,562,897 (GRCm39)	N3K	probably benign	Het
Hmcn1	A	T	1: 150,525,768 (GRCm39)	C3318*	probably null	Het
Lipo2	C	T	19: 33,726,824 (GRCm39)	S71N	probably benign	Het
Mynn	G	T	3: 30,661,217 (GRCm39)	D100Y	probably damaging	Het
Myo16	G	A	8: 10,612,318 (GRCm39)		probably null	Het
Npr2	G	T	4: 43,640,947 (GRCm39)	K384N	probably benign	Het
Nrde2	A	G	12: 100,098,492 (GRCm39)	V725A	possibly damaging	Het
Or11h23	T	A	14: 50,948,661 (GRCm39)	S291R	probably damaging	Het
Or2l13	A	G	16: 19,305,938 (GRCm39)	M117V	probably damaging	Het
Otud7a	C	T	7: 63,335,266 (GRCm39)	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,475,410 (GRCm39)	L182Q	probably benign	Het
Pdss1	A	G	2: 22,805,425 (GRCm39)		probably null	Het
Ppargc1b	T	A	18: 61,444,512 (GRCm39)	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,320,987 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,195,949 (GRCm39)	S37R	possibly damaging	Het
Prss45	A	G	9: 110,667,497 (GRCm39)	T39A	probably benign	Het
Qars1	T	C	9: 108,392,161 (GRCm39)		probably benign	Het
Rxfp2	T	G	5: 149,961,712 (GRCm39)	H77Q	probably benign	Het
Scd4	A	G	19: 44,329,685 (GRCm39)	M219V	probably benign	Het
Sec24b	G	T	3: 129,834,985 (GRCm39)	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,576 (GRCm39)	V861G	probably benign	Het
Sspo	A	G	6: 48,441,876 (GRCm39)		probably null	Het
Tas2r129	A	G	6: 132,928,497 (GRCm39)	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,833,120 (GRCm39)	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,757,732 (GRCm39)	N175S	probably benign	Het
Tspyl4	A	G	10: 34,174,518 (GRCm39)	N337D	probably damaging	Het
Ttn	A	T	2: 76,642,545 (GRCm39)	L13330H	probably damaging	Het
Usp33	T	A	3: 152,089,756 (GRCm39)	Y765*	probably null	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Zbed6	A	G	1: 133,585,576 (GRCm39)	F587S	probably benign	Het
Zfhx4	T	C	3: 5,467,161 (GRCm39)	S2465P	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAGAAAACACCGAGGACACTGAC -3'
(R):5'- GCTCATCCAAAGGGAGCAGCATAG -3'

Sequencing Primer
(F):5'- GGAAAGGGACGGCTTCCATC -3'
(R):5'- GAGCAGCATAGAGACCCTAAAAC -3'

Posted On

2013-07-11