Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Dnaaf2'

237073

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

1110034A24Rik, kintoun, 2810020C19Rik, Ktu

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2179 (G1)

Quality Score

119

Status

Not validated

Chromosome

Chromosomal Location

69235861-69245203 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 69245071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BPI1

Predicted Effect

probably benign
Transcript: ENSMUST00000021356

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973

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 benign
Transcript: ENSMUST00000223192

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	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
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'- TGAGTTGCTGCACACGTTCAC -3'
(R):5'- ATTTCTACCAGATCGCTGCC -3'

Sequencing Primer
(F):5'- TTCACGTAGCAGCGGTG -3'
(R):5'- CAGATCGCTGCCCCTCC -3'

Posted On

2014-10-02