Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Dnaaf2'

698807

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

1110034A24Rik, kintoun, 2810020C19Rik, Ktu

MMRRC Submission

068983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69235861-69245203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69244602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 153 (A153V)

Ref Sequence

ENSEMBL: ENSMUSP00000021356 (fasta)

Gene Model

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

AlphaFold

Q8BPI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000021356
AA Change: A153V

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

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: A153V

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

probably benign
Transcript: ENSMUST00000221411

Predicted Effect

probably benign
Transcript: ENSMUST00000222699

Predicted Effect

probably benign
Transcript: ENSMUST00000223192

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Egfem1	T	G	3: 29,207,743 (GRCm39)	C144W	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Septin5	A	T	16: 18,442,961 (GRCm39)	I206K	possibly damaging	Het
Sh2d2a	C	A	3: 87,756,655 (GRCm39)	L167I	probably damaging	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	possibly damaging	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
R2011:Dnaaf2	UTSW	12	69,243,559 (GRCm39)	missense	probably damaging	1.00
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
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'- AATCCTGGAGGTCTACGTGGTG -3'
(R):5'- CAACTCACTGGTAGGCGTAC -3'

Sequencing Primer
(F):5'- TGGGTCCGGGAAAAGCC -3'
(R):5'- CGTACCTAGCAGCCGGC -3'

Posted On

2022-02-07