Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Dnaaf2'

670891

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

1110034A24Rik, kintoun, 2810020C19Rik, Ktu

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69235861-69245203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69244068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 331 (D331G)

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: D331G

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

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: D331G

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: 99.3%

Validation Efficiency

100% (83/83)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (GRCm39)		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
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
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'- TTTCCCGAGGTCTAGAGGTG -3'
(R):5'- ACGTAGACCTCCAGGATTACC -3'

Sequencing Primer
(F):5'- TCTAGAGGTGCCACCGAGTC -3'
(R):5'- TCCAGGATTACCGCTGCTCG -3'

Posted On

2021-04-30