Mutagenetix > Incidental Mutation

Incidental Mutation 'R0472:Dnai2'

46837

Institutional Source

Beutler Lab

Gene Symbol

Dnai2

Ensembl Gene

ENSMUSG00000034706

Gene Name

dynein axonemal intermediate chain 2

Synonyms

C030015H18Rik, b2b3405Clo, Dnaic2

MMRRC Submission

038672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R0472 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

114618234-114648715 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 114636015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]

AlphaFold

A2AC93

Predicted Effect

probably benign
Transcript: ENSMUST00000069325

SMART Domains

Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092469

SMART Domains

Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136403

Predicted Effect

probably benign
Transcript: ENSMUST00000141762

SMART Domains

Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
low complexity region	458	476	N/A	INTRINSIC
low complexity region	507	533	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151053

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,123 (GRCm39)		noncoding transcript	Het
AI182371	T	C	2: 34,975,218 (GRCm39)	N337S	probably benign	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Arap2	A	G	5: 62,864,002 (GRCm39)	F541L	probably damaging	Het
Asap2	G	T	12: 21,263,186 (GRCm39)	R267L	possibly damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
C1ra	T	A	6: 124,494,403 (GRCm39)	D283E	possibly damaging	Het
Cacul1	G	T	19: 60,531,464 (GRCm39)	H268Q	probably damaging	Het
Cd9	T	C	6: 125,449,396 (GRCm39)	N49D	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cep290	G	A	10: 100,387,317 (GRCm39)	G1935E	probably benign	Het
Cep350	A	T	1: 155,790,469 (GRCm39)	I1362N	probably damaging	Het
Chchd7	A	T	4: 3,943,416 (GRCm39)	N61I	possibly damaging	Het
Clca3a1	A	T	3: 144,733,106 (GRCm39)	L134Q	probably damaging	Het
Clec2j	T	C	6: 128,633,565 (GRCm39)		noncoding transcript	Het
Clvs1	G	A	4: 9,281,801 (GRCm39)	A82T	probably damaging	Het
Csn1s1	A	T	5: 87,825,486 (GRCm39)	Y231F	possibly damaging	Het
Cyp2c55	A	T	19: 39,019,823 (GRCm39)	T254S	probably benign	Het
Decr1	A	G	4: 15,919,849 (GRCm39)	S290P	probably damaging	Het
Dock4	C	A	12: 40,888,437 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Elmo2	A	G	2: 165,140,250 (GRCm39)	I315T	probably damaging	Het
Fcho2	A	G	13: 98,884,775 (GRCm39)	F431L	probably benign	Het
Fez2	A	G	17: 78,692,261 (GRCm39)		probably benign	Het
Gas2l3	C	T	10: 89,262,339 (GRCm39)	A128T	probably damaging	Het
Hpse2	T	C	19: 43,001,602 (GRCm39)	I222M	probably damaging	Het
Katnip	A	G	7: 125,472,139 (GRCm39)	N1548S	probably damaging	Het
Kcna2	A	G	3: 107,012,832 (GRCm39)	D471G	probably benign	Het
Kcnj13	T	A	1: 87,314,568 (GRCm39)	Y218F	probably benign	Het
Kif1a	T	C	1: 92,946,719 (GRCm39)	H1763R	probably damaging	Het
Krt1c	C	T	15: 101,721,688 (GRCm39)	R451H	probably damaging	Het
Lama2	A	G	10: 26,866,863 (GRCm39)	V2877A	probably damaging	Het
Lrrc2	A	T	9: 110,791,685 (GRCm39)	M80L	probably benign	Het
Naip6	A	G	13: 100,438,768 (GRCm39)	V343A	probably benign	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nif3l1	A	C	1: 58,486,987 (GRCm39)	S58R	probably damaging	Het
Or51h7	A	T	7: 102,591,258 (GRCm39)	C175*	probably null	Het
Or5w20	T	A	2: 87,726,837 (GRCm39)	V98E	possibly damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Pask	A	T	1: 93,248,639 (GRCm39)	D920E	probably benign	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Ptpn21	G	A	12: 98,670,499 (GRCm39)		probably benign	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Rsad2	T	G	12: 26,504,167 (GRCm39)	I121L	possibly damaging	Het
Sergef	T	G	7: 46,283,170 (GRCm39)		probably benign	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Tas2r104	T	C	6: 131,662,434 (GRCm39)	I92V	probably benign	Het
Tasor2	A	G	13: 3,638,364 (GRCm39)	S456P	possibly damaging	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tbc1d9b	A	G	11: 50,059,055 (GRCm39)		probably null	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tpo	A	G	12: 30,150,485 (GRCm39)	V465A	probably benign	Het
Ttll3	A	T	6: 113,386,300 (GRCm39)	Q711L	probably damaging	Het
Ttn	C	T	2: 76,783,385 (GRCm39)	R869H	probably benign	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Usp34	T	C	11: 23,334,509 (GRCm39)		probably benign	Het
Vmn1r17	C	A	6: 57,338,304 (GRCm39)	M20I	probably benign	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r120	C	T	17: 57,831,518 (GRCm39)	V424I	probably benign	Het
Vps13b	T	C	15: 35,417,779 (GRCm39)		probably null	Het
Wdfy3	C	A	5: 102,105,309 (GRCm39)	A173S	probably benign	Het
Wdr59	T	C	8: 112,213,629 (GRCm39)		probably null	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp808	T	A	13: 62,320,120 (GRCm39)	F450I	probably damaging	Het

Other mutations in Dnai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Dnai2	APN	11	114,642,614 (GRCm39)	missense	probably benign	0.37
IGL01548:Dnai2	APN	11	114,643,768 (GRCm39)	missense	probably damaging	1.00
IGL02719:Dnai2	APN	11	114,642,737 (GRCm39)	missense	probably damaging	1.00
IGL03236:Dnai2	APN	11	114,648,075 (GRCm39)	unclassified	probably benign
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0305:Dnai2	UTSW	11	114,643,720 (GRCm39)	missense	probably benign	0.09
R0711:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R1756:Dnai2	UTSW	11	114,641,206 (GRCm39)	missense	probably benign	0.02
R1861:Dnai2	UTSW	11	114,643,777 (GRCm39)	missense	possibly damaging	0.56
R1916:Dnai2	UTSW	11	114,623,749 (GRCm39)	missense	possibly damaging	0.88
R1981:Dnai2	UTSW	11	114,623,755 (GRCm39)	missense	probably damaging	1.00
R1983:Dnai2	UTSW	11	114,626,682 (GRCm39)	splice site	probably null
R2430:Dnai2	UTSW	11	114,648,012 (GRCm39)	unclassified	probably benign
R2510:Dnai2	UTSW	11	114,647,993 (GRCm39)	unclassified	probably benign
R3001:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3002:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3113:Dnai2	UTSW	11	114,642,756 (GRCm39)	splice site	probably null
R3803:Dnai2	UTSW	11	114,629,551 (GRCm39)	missense	probably benign
R3874:Dnai2	UTSW	11	114,623,781 (GRCm39)	missense	probably damaging	1.00
R4853:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.03
R5267:Dnai2	UTSW	11	114,631,293 (GRCm39)	missense	probably benign	0.02
R6008:Dnai2	UTSW	11	114,643,816 (GRCm39)	missense	probably benign	0.01
R6024:Dnai2	UTSW	11	114,643,734 (GRCm39)	missense	possibly damaging	0.85
R6819:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.00
R7053:Dnai2	UTSW	11	114,629,521 (GRCm39)	missense	probably damaging	1.00
R7143:Dnai2	UTSW	11	114,645,076 (GRCm39)	missense	possibly damaging	0.86
R7208:Dnai2	UTSW	11	114,647,988 (GRCm39)	missense	unknown
R7275:Dnai2	UTSW	11	114,648,054 (GRCm39)	missense	unknown
R7463:Dnai2	UTSW	11	114,645,232 (GRCm39)	missense	probably benign	0.07
R7779:Dnai2	UTSW	11	114,645,235 (GRCm39)	missense	possibly damaging	0.50
R7899:Dnai2	UTSW	11	114,629,456 (GRCm39)	missense	probably benign	0.21
R8443:Dnai2	UTSW	11	114,645,275 (GRCm39)	missense	unknown
R8944:Dnai2	UTSW	11	114,641,302 (GRCm39)	missense	possibly damaging	0.58
R9081:Dnai2	UTSW	11	114,629,493 (GRCm39)	missense	probably damaging	0.97
R9182:Dnai2	UTSW	11	114,623,839 (GRCm39)	missense	probably benign	0.17
R9335:Dnai2	UTSW	11	114,625,489 (GRCm39)	missense	probably benign	0.01
R9380:Dnai2	UTSW	11	114,635,989 (GRCm39)	missense	probably benign	0.12
RF012:Dnai2	UTSW	11	114,641,242 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGGTCTTCACAGTCTCAATCG -3'
(R):5'- GCCTCAACTGAAGCCAAAGCAGTG -3'

Sequencing Primer
(F):5'- ACAGTCTCAATCGCCCTTC -3'
(R):5'- GGATCTTCCCCTAAAACTGGGC -3'

Posted On

2013-06-11