Mutagenetix > Incidental Mutation

Incidental Mutation 'R5098:Dnaaf9'

388115

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf9

Ensembl Gene

ENSMUSG00000027309

Gene Name

dynein axonemal assembly factor 9

Synonyms

4930402H24Rik

MMRRC Submission

042687-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5098 (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 130640101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 128 (S128P)

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: S259P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: S259P

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: S128P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: S128P

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: ENSMUST00000148924

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,847,944 (GRCm39)	I784V	probably benign	Het
Agxt	A	G	1: 93,065,029 (GRCm39)	H146R	probably benign	Het
Art5	A	G	7: 101,747,177 (GRCm39)	F201L	probably damaging	Het
Bcl2a1b	T	A	9: 89,081,432 (GRCm39)	M7K	probably benign	Het
Card10	G	A	15: 78,660,917 (GRCm39)	A1030V	probably benign	Het
Ccdc66	G	A	14: 27,220,750 (GRCm39)	T58M	probably damaging	Het
Cd72	C	T	4: 43,452,610 (GRCm39)	G74R	probably damaging	Het
Cdc27	T	C	11: 104,398,113 (GRCm39)	K749R	probably damaging	Het
Commd3	A	T	2: 18,678,988 (GRCm39)	T102S	possibly damaging	Het
Cyp2f2	A	G	7: 26,829,304 (GRCm39)	T270A	possibly damaging	Het
Dclre1b	A	G	3: 103,716,452 (GRCm39)		probably benign	Het
Dennd1b	T	A	1: 139,061,459 (GRCm39)	D380E	probably damaging	Het
Dhx58	T	C	11: 100,585,999 (GRCm39)	E674G	probably benign	Het
Ecpas	T	C	4: 58,877,048 (GRCm39)	D129G	probably damaging	Het
Exoc5	T	C	14: 49,286,304 (GRCm39)	T108A	possibly damaging	Het
Fat4	T	C	3: 38,942,438 (GRCm39)	S444P	probably benign	Het
Gm3327	A	T	14: 44,362,292 (GRCm39)	I64F	unknown	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr15	T	A	16: 58,538,890 (GRCm39)	R66S	probably damaging	Het
Hmga1b	T	C	11: 120,654,018 (GRCm39)	S102P	probably benign	Het
Kat6b	G	A	14: 21,669,083 (GRCm39)		probably benign	Het
Kdm1b	A	G	13: 47,216,467 (GRCm39)	Y279C	probably damaging	Het
Krtap9-3	C	A	11: 99,488,816 (GRCm39)	C22F	probably benign	Het
Map3k14	T	A	11: 103,115,185 (GRCm39)	D817V	probably damaging	Het
Mybpc1	T	C	10: 88,381,926 (GRCm39)	D588G	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t6	A	G	14: 14,175,683 (GRCm38)	V133A	probably benign	Het
Or5g29	A	G	2: 85,420,976 (GRCm39)	I31V	probably benign	Het
Pcdhb20	A	G	18: 37,637,858 (GRCm39)	D128G	probably damaging	Het
Pgap6	A	T	17: 26,337,902 (GRCm39)	N429Y	probably damaging	Het
Ppil6	A	G	10: 41,366,616 (GRCm39)	E47G	probably null	Het
Rad17	A	T	13: 100,754,154 (GRCm39)	*689K	probably null	Het
Scin	A	T	12: 40,127,541 (GRCm39)	Y416*	probably null	Het
Serf1	A	G	13: 100,245,575 (GRCm39)	T18A	probably benign	Het
Sik2	T	C	9: 50,906,891 (GRCm39)		probably benign	Het
Slc39a8	C	A	3: 135,563,918 (GRCm39)	N254K	probably benign	Het
Spint3	A	G	2: 164,411,821 (GRCm39)	F63L	probably damaging	Het
Suox	A	T	10: 128,507,027 (GRCm39)	S334T	probably damaging	Het
Tas2r119	A	G	15: 32,178,228 (GRCm39)	M265V	probably benign	Het
Tmem126b	A	G	7: 90,118,850 (GRCm39)	L146P	probably damaging	Het
Trpc3	G	T	3: 36,717,047 (GRCm39)	D330E	probably benign	Het
Ugt2a2	T	C	5: 87,612,040 (GRCm39)	E290G	possibly damaging	Het
Ugt2b37	T	A	5: 87,390,812 (GRCm39)	T352S	probably damaging	Het
Vmn1r40	T	C	6: 89,691,930 (GRCm39)	V249A	probably damaging	Het
Zc3h18	A	G	8: 123,113,608 (GRCm39)	D200G	probably damaging	Het
Zfp652	T	C	11: 95,643,762 (GRCm39)	V140A	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
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'- CAAACCTCTACATTGGTGAATCTTG -3'
(R):5'- CCACTCCCTGGGTAACTTAAC -3'

Sequencing Primer
(F):5'- GGCACAGTAGCACACGACTTTTAC -3'
(R):5'- TGGGTAACTTAACTTCCAACTCAC -3'

Posted On

2016-06-06