Mutagenetix > Incidental Mutation

Incidental Mutation 'R3878:Dnaaf9'

276934

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 #

R3878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130548120-130682565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130620423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 237 (R237G)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044766
AA Change: R368G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: R368G

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

possibly damaging
Transcript: ENSMUST00000119422
AA Change: R237G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: R237G

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: ENSMUST00000123049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148924

Coding Region Coverage

1x: 99.2%
3x: 98.6%
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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	C	T	2: 130,247,560 (GRCm39)	T32M	probably benign	Het
A2ml1	T	C	6: 128,531,324 (GRCm39)	S915G	probably benign	Het
Ablim1	T	C	19: 57,025,642 (GRCm39)		probably null	Het
Atosb	T	G	4: 43,035,867 (GRCm39)	H288P	probably damaging	Het
Cadm2	C	T	16: 66,612,329 (GRCm39)	E78K	probably damaging	Het
Ceacam5	C	T	7: 17,484,506 (GRCm39)	P416L	probably damaging	Het
Chsy3	T	C	18: 59,542,845 (GRCm39)	F661S	probably damaging	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Ctif	A	G	18: 75,653,048 (GRCm39)	I403T	probably damaging	Het
Eprs1	T	A	1: 185,148,150 (GRCm39)		probably null	Het
Frs2	A	C	10: 116,914,815 (GRCm39)	S35A	probably benign	Het
Gpr155	C	T	2: 73,198,736 (GRCm39)	W394*	probably null	Het
Ift140	G	A	17: 25,247,918 (GRCm39)	V259M	probably benign	Het
Igkv9-124	A	T	6: 67,919,191 (GRCm39)	S74T	probably benign	Het
Krt14	C	T	11: 100,097,915 (GRCm39)	V123M	possibly damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Nebl	T	C	2: 17,398,063 (GRCm39)	T457A	possibly damaging	Het
Nlrp4g	A	G	9: 124,349,362 (GRCm38)		noncoding transcript	Het
Nsa2	C	G	13: 97,268,542 (GRCm39)	G175A	probably benign	Het
Or8k40	T	C	2: 86,584,972 (GRCm39)	T37A	probably benign	Het
Pax1	A	T	2: 147,204,228 (GRCm39)		probably benign	Het
Pdzd2	T	C	15: 12,376,262 (GRCm39)	E1291G	probably benign	Het
Relb	G	A	7: 19,351,769 (GRCm39)	H115Y	probably damaging	Het
Rnase10	A	G	14: 51,246,889 (GRCm39)	E52G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc14a2	C	T	18: 78,202,289 (GRCm39)	V614I	probably benign	Het
Slc20a2	T	C	8: 23,058,399 (GRCm39)	L645P	possibly damaging	Het
Smoc2	A	G	17: 14,545,879 (GRCm39)	D56G	probably damaging	Het
Szt2	A	G	4: 118,247,782 (GRCm39)	S789P	probably damaging	Het
Tenm2	A	G	11: 36,030,401 (GRCm39)		probably null	Het
Tm9sf3	A	G	19: 41,235,152 (GRCm39)	V169A	probably damaging	Het
Trbv13-1	C	T	6: 41,093,322 (GRCm39)	T86I	probably benign	Het
Trim24	A	G	6: 37,941,708 (GRCm39)	D886G	probably benign	Het
Trim33	A	G	3: 103,259,321 (GRCm39)	I1003M	probably damaging	Het
Trim37	T	C	11: 87,096,828 (GRCm39)	V777A	probably benign	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,596,364 (GRCm39)	D11856G	possibly damaging	Het
Vmn1r226	A	T	17: 20,908,260 (GRCm39)	D164V	possibly damaging	Het
Vmn1r34	G	A	6: 66,614,552 (GRCm39)	T62I	possibly damaging	Het
Wapl	T	C	14: 34,414,104 (GRCm39)	L322P	probably damaging	Het
Zfp62	A	G	11: 49,105,960 (GRCm39)	D17G	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
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'- GTTCAAGTGCTACAGGCTTG -3'
(R):5'- CCACATTTATGGGCATAGAACTTTTCC -3'

Sequencing Primer
(F):5'- TCAAGTGCTACAGGCTTGGCTAC -3'
(R):5'- CCAGAAAATGACATCTTGTTCCCTGG -3'

Posted On

2015-04-06