Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Dnaaf2'

580697

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf2

Ensembl Gene

ENSMUSG00000020973

Gene Name

dynein, axonemal assembly factor 2

Synonyms

1110034A24Rik, kintoun, 2810020C19Rik, Ktu

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69235861-69245203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69244380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 227 (Y227C)

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: Y227C

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

SMART Domains

Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: Y227C

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Chmp6	C	T	11: 119,806,269 (GRCm39)	Q32*	probably null	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,707,373 (GRCm39)	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
L3mbtl3	C	T	10: 26,215,129 (GRCm39)	V194I	unknown	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp1r16b	T	C	2: 158,603,388 (GRCm39)	Y438H	probably damaging	Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,840,078 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	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
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'- TTTCTCGAGTCCAGGCACAG -3'
(R):5'- TGCAGCAACTCACTGGTAGG -3'

Sequencing Primer
(F):5'- AGTCCAGGCACAGCAGCTTC -3'
(R):5'- AGCAACTCACTGGTAGGCGTAC -3'

Posted On

2019-10-17