Mutagenetix > Incidental Mutation

Incidental Mutation 'R2011:Dnaaf2'

219762

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

1110034A24Rik, kintoun, 2810020C19Rik, Ktu

MMRRC Submission

040020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69235861-69245203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69243559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 107 (P107S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]

AlphaFold

Q8BPI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021356
AA Change: P501S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: P501S

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
Pfam:PIH1	43	352	2e-99	PFAM
low complexity region	360	373	N/A	INTRINSIC
SCOP:d1keka4	398	460	4e-3	SMART
low complexity region	672	693	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021359

SMART Domains

Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974

Domain	Start	End	E-Value	Type
Pfam:Dpoe2NT	2	74	1.9e-32	PFAM
Pfam:DNA_pol_E_B	287	489	1.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181850

SMART Domains

Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	74	87	N/A	INTRINSIC
low complexity region	113	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221986

Predicted Effect

probably benign
Transcript: ENSMUST00000222699

Predicted Effect

probably damaging
Transcript: ENSMUST00000223192
AA Change: P107S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, reduced body size, situs inversus totalis, hydroencephaly and abnormal brain ependymal and tracheal cilia morphology and motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,042,742 (GRCm38)	T100S	probably benign	Het
Adam6a	T	C	12: 113,508,998 (GRCm39)	I457T	probably benign	Het
Aff3	T	C	1: 38,246,996 (GRCm39)	N863S	probably benign	Het
Agk	C	A	6: 40,353,168 (GRCm39)	D177E	probably benign	Het
Alg9	C	T	9: 50,699,500 (GRCm39)	A209V	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Bpi	A	T	2: 158,103,272 (GRCm39)	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Cblc	T	A	7: 19,518,747 (GRCm39)	D452V	probably benign	Het
Ccar1	T	C	10: 62,612,473 (GRCm39)	T231A	probably benign	Het
Ccdc112	A	G	18: 46,420,499 (GRCm39)	L417P	probably damaging	Het
Ccdc34	G	A	2: 109,874,649 (GRCm39)	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,844,829 (GRCm39)	S305P	probably benign	Het
Clip2	T	C	5: 134,531,969 (GRCm39)	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360 (GRCm39)	T692A	probably benign	Het
Copg2	A	T	6: 30,793,676 (GRCm39)		probably null	Het
Ctnna2	T	A	6: 76,950,774 (GRCm39)	I566F	possibly damaging	Het
Cux2	C	T	5: 121,999,389 (GRCm39)	D1184N	probably benign	Het
Dclk3	A	G	9: 111,297,422 (GRCm39)	E322G	probably benign	Het
Ddx41	A	T	13: 55,681,906 (GRCm39)		probably null	Het
Eif2ak4	A	G	2: 118,261,428 (GRCm39)	E578G	probably damaging	Het
Exd1	A	G	2: 119,359,144 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,173,583 (GRCm39)	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,858,214 (GRCm39)	T741A	probably benign	Het
Fgr	C	A	4: 132,724,832 (GRCm39)	A311E	probably damaging	Het
Fmo4	T	C	1: 162,626,458 (GRCm39)	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006 (GRCm39)	V235A	probably benign	Het
Gm1110	T	A	9: 26,805,554 (GRCm39)	H366L	probably benign	Het
Gm43302	T	C	5: 105,438,846 (GRCm39)	N14S	probably damaging	Het
Gm5422	A	G	10: 31,124,764 (GRCm39)		noncoding transcript	Het
Gm57858	A	T	3: 36,064,827 (GRCm39)	C515*	probably null	Het
Gpr21	A	G	2: 37,407,547 (GRCm39)	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,646,207 (GRCm39)	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,553,085 (GRCm39)	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,883,598 (GRCm39)	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,723 (GRCm39)	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,735,169 (GRCm39)	S87P	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Iqca1	T	C	1: 89,973,348 (GRCm39)	N808S	probably benign	Het
Kcnu1	A	G	8: 26,408,470 (GRCm39)	I94V	probably benign	Het
Lrba	A	T	3: 86,217,324 (GRCm39)	E517V	probably damaging	Het
Mcidas	A	G	13: 113,130,515 (GRCm39)	E37G	possibly damaging	Het
Med23	T	A	10: 24,755,653 (GRCm39)	F83L	possibly damaging	Het
Micu2	T	C	14: 58,191,590 (GRCm39)		probably null	Het
Mrgprx2	A	T	7: 48,132,282 (GRCm39)	C179S	probably damaging	Het
Myo6	A	G	9: 80,215,004 (GRCm39)	T1236A	probably damaging	Het
Myo7a	A	T	7: 97,703,915 (GRCm39)	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122 (GRCm38)	Y695F	probably damaging	Het
Nr3c2	A	T	8: 77,636,422 (GRCm39)	I508F	possibly damaging	Het
Or11g27	T	C	14: 50,771,141 (GRCm39)	S91P	probably damaging	Het
Or14a260	A	T	7: 85,984,955 (GRCm39)	Y216*	probably null	Het
Or2ag13	T	C	7: 106,472,634 (GRCm39)	I273V	probably benign	Het
Or5w1b	A	T	2: 87,476,233 (GRCm39)	I78N	probably damaging	Het
Or8k23	A	T	2: 86,186,530 (GRCm39)	H65Q	possibly damaging	Het
Or9s13	T	C	1: 92,548,471 (GRCm39)	V281A	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
P2ry10	A	C	X: 106,146,241 (GRCm39)	I59L	probably damaging	Het
Parp11	A	G	6: 127,454,854 (GRCm39)	N124S	probably benign	Het
Pcdh7	T	A	5: 57,876,971 (GRCm39)	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phc2	T	A	4: 128,617,378 (GRCm39)	V468E	probably benign	Het
Piezo2	T	C	18: 63,192,815 (GRCm39)	T1605A	probably damaging	Het
Pik3cb	A	T	9: 98,987,632 (GRCm39)	Y35*	probably null	Het
Piwil2	A	T	14: 70,664,083 (GRCm39)	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889 (GRCm39)	F101L	probably damaging	Het
Pomt2	A	G	12: 87,158,173 (GRCm39)	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,465,700 (GRCm39)		probably null	Het
Prkag2	C	T	5: 25,076,052 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,641,542 (GRCm39)	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,499,352 (GRCm39)	G45D	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rlig1	T	G	10: 100,419,820 (GRCm39)	D58A	probably damaging	Het
Rtcb	A	T	10: 85,777,797 (GRCm39)	I459N	probably damaging	Het
Rtp3	A	T	9: 110,815,102 (GRCm39)		probably benign	Het
Rundc3b	T	A	5: 8,562,409 (GRCm39)		probably null	Het
Scube3	A	G	17: 28,387,132 (GRCm39)	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,799,394 (GRCm39)	Q421L	probably benign	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,500,833 (GRCm39)	F437L	probably benign	Het
Slco3a1	G	A	7: 73,996,419 (GRCm39)	A329V	probably benign	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spen	A	T	4: 141,200,640 (GRCm39)	N2662K	probably damaging	Het
Sptb	G	C	12: 76,679,246 (GRCm39)	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,644 (GRCm39)	S136P	probably damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,979,971 (GRCm39)		probably null	Het
Tchh	G	A	3: 93,354,268 (GRCm39)	R1236Q	unknown	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,132,966 (GRCm39)	R80H	probably benign	Het
Tpgs1	T	C	10: 79,511,722 (GRCm39)	L288P	probably damaging	Het
Trhde	T	C	10: 114,334,698 (GRCm39)	I659V	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Ttc5	C	A	14: 51,019,007 (GRCm39)	E37*	probably null	Het
Uvrag	A	G	7: 98,589,096 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,283 (GRCm39)	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,604,287 (GRCm39)	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,770,869 (GRCm39)	Y32*	probably null	Het
Wrn	A	G	8: 33,726,432 (GRCm39)	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,746,527 (GRCm39)	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,367,217 (GRCm39)	Q480*	probably null	Het
Zfp456	G	A	13: 67,514,993 (GRCm39)	Q238*	probably null	Het
Zranb3	T	A	1: 128,019,638 (GRCm39)	T35S	probably benign	Het

Other mutations in Dnaaf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Dnaaf2	APN	12	69,243,540 (GRCm39)	missense	probably benign	0.23
IGL01321:Dnaaf2	APN	12	69,243,376 (GRCm39)	missense	probably damaging	1.00
IGL01880:Dnaaf2	APN	12	69,236,811 (GRCm39)	missense	probably benign	0.17
R0329:Dnaaf2	UTSW	12	69,244,518 (GRCm39)	missense	probably damaging	1.00
R0330:Dnaaf2	UTSW	12	69,244,518 (GRCm39)	missense	probably damaging	1.00
R1051:Dnaaf2	UTSW	12	69,244,569 (GRCm39)	missense	probably damaging	1.00
R1668:Dnaaf2	UTSW	12	69,243,465 (GRCm39)	missense	probably benign	0.04
R2179:Dnaaf2	UTSW	12	69,245,071 (GRCm39)	unclassified	probably benign
R2243:Dnaaf2	UTSW	12	69,243,418 (GRCm39)	missense	possibly damaging	0.83
R2356:Dnaaf2	UTSW	12	69,244,992 (GRCm39)	missense	probably benign	0.01
R4120:Dnaaf2	UTSW	12	69,244,812 (GRCm39)	missense	possibly damaging	0.85
R5086:Dnaaf2	UTSW	12	69,244,060 (GRCm39)	missense	probably damaging	1.00
R5205:Dnaaf2	UTSW	12	69,239,698 (GRCm39)	missense	probably damaging	1.00
R5300:Dnaaf2	UTSW	12	69,245,002 (GRCm39)	missense	probably damaging	0.99
R5399:Dnaaf2	UTSW	12	69,243,516 (GRCm39)	missense	probably damaging	0.97
R5739:Dnaaf2	UTSW	12	69,243,715 (GRCm39)	missense	probably benign
R5765:Dnaaf2	UTSW	12	69,239,627 (GRCm39)	missense	probably damaging	1.00
R5872:Dnaaf2	UTSW	12	69,244,122 (GRCm39)	missense	probably damaging	1.00
R6043:Dnaaf2	UTSW	12	69,244,122 (GRCm39)	missense	probably damaging	1.00
R6338:Dnaaf2	UTSW	12	69,244,896 (GRCm39)	missense	probably damaging	1.00
R6503:Dnaaf2	UTSW	12	69,244,285 (GRCm39)	missense	probably benign	0.42
R6524:Dnaaf2	UTSW	12	69,237,159 (GRCm39)	missense	probably benign	0.43
R6895:Dnaaf2	UTSW	12	69,244,437 (GRCm39)	missense	probably benign	0.04
R7490:Dnaaf2	UTSW	12	69,244,380 (GRCm39)	missense	probably damaging	1.00
R7971:Dnaaf2	UTSW	12	69,244,119 (GRCm39)	missense	probably damaging	1.00
R8209:Dnaaf2	UTSW	12	69,244,866 (GRCm39)	missense	probably damaging	1.00
R8790:Dnaaf2	UTSW	12	69,244,068 (GRCm39)	missense	probably damaging	1.00
R9210:Dnaaf2	UTSW	12	69,244,602 (GRCm39)	missense	probably damaging	1.00
R9548:Dnaaf2	UTSW	12	69,244,776 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnaaf2	UTSW	12	69,244,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTTAAAGAAACGCTAGTCTCGGG -3'
(R):5'- ACCTCTAGACCTCGGGAAAG -3'

Sequencing Primer
(F):5'- AAGAAACGCTAGTCTCGGGTTCTC -3'
(R):5'- AGGGACTTCTCCTGGGGAC -3'

Posted On

2014-08-25