Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Dnai1'

20629

Institutional Source

Beutler Lab

Gene Symbol

Dnai1

Ensembl Gene

ENSMUSG00000061322

Gene Name

dynein axonemal intermediate chain 1

Synonyms

b2b1526Clo, Dnaic1, 1110066F04Rik

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R0114 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

41569775-41638158 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 41605686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102963]

AlphaFold

Q8C0M8

Predicted Effect

probably benign
Transcript: ENSMUST00000102963

SMART Domains

Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322

Domain	Start	End	E-Value	Type
low complexity region	134	158	N/A	INTRINSIC
low complexity region	238	261	N/A	INTRINSIC
Blast:WD40	319	370	1e-17	BLAST
WD40	374	413	1.5e-3	SMART
WD40	419	465	4.4e-2	SMART
Blast:WD40	493	526	5e-13	BLAST
WD40	530	570	9.3e-9	SMART
WD40	575	612	6e-3	SMART
WD40	623	659	1.4e0	SMART

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nlrp9b	A	G	7: 19,757,981 (GRCm39)	D406G	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	Het

Other mutations in Dnai1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02678:Dnai1	APN	4	41,602,917 (GRCm39)	missense	probably benign	0.03
IGL02825:Dnai1	APN	4	41,625,101 (GRCm39)	splice site	probably benign
IGL03072:Dnai1	APN	4	41,602,979 (GRCm39)	missense	probably benign	0.00
H8562:Dnai1	UTSW	4	41,629,833 (GRCm39)	missense	possibly damaging	0.81
R0138:Dnai1	UTSW	4	41,629,814 (GRCm39)	missense	possibly damaging	0.49
R0153:Dnai1	UTSW	4	41,635,162 (GRCm39)	unclassified	probably benign
R0465:Dnai1	UTSW	4	41,629,988 (GRCm39)	splice site	probably null
R0550:Dnai1	UTSW	4	41,596,274 (GRCm39)	nonsense	probably null
R0555:Dnai1	UTSW	4	41,625,335 (GRCm39)	missense	possibly damaging	0.64
R0890:Dnai1	UTSW	4	41,604,253 (GRCm39)	missense	possibly damaging	0.69
R0928:Dnai1	UTSW	4	41,602,566 (GRCm39)	missense	possibly damaging	0.57
R0944:Dnai1	UTSW	4	41,629,997 (GRCm39)	missense	probably benign
R1714:Dnai1	UTSW	4	41,632,164 (GRCm39)	missense	probably benign	0.12
R1902:Dnai1	UTSW	4	41,625,319 (GRCm39)	nonsense	probably null
R1919:Dnai1	UTSW	4	41,570,020 (GRCm39)	critical splice donor site	probably null
R1983:Dnai1	UTSW	4	41,603,232 (GRCm39)	missense	probably benign
R2036:Dnai1	UTSW	4	41,632,225 (GRCm39)	missense	probably damaging	1.00
R2306:Dnai1	UTSW	4	41,625,239 (GRCm39)	missense	probably benign
R2925:Dnai1	UTSW	4	41,597,919 (GRCm39)	missense	probably damaging	1.00
R3404:Dnai1	UTSW	4	41,603,246 (GRCm39)	missense	probably benign	0.00
R3720:Dnai1	UTSW	4	41,602,615 (GRCm39)	missense	probably damaging	1.00
R3721:Dnai1	UTSW	4	41,602,615 (GRCm39)	missense	probably damaging	1.00
R3722:Dnai1	UTSW	4	41,602,615 (GRCm39)	missense	probably damaging	1.00
R3931:Dnai1	UTSW	4	41,604,229 (GRCm39)	missense	probably damaging	1.00
R4330:Dnai1	UTSW	4	41,637,966 (GRCm39)	missense	probably damaging	1.00
R4755:Dnai1	UTSW	4	41,610,269 (GRCm39)	missense	probably damaging	0.99
R4905:Dnai1	UTSW	4	41,614,269 (GRCm39)	missense	probably benign	0.05
R4997:Dnai1	UTSW	4	41,597,919 (GRCm39)	missense	possibly damaging	0.80
R5088:Dnai1	UTSW	4	41,632,251 (GRCm39)	missense	probably benign	0.02
R5088:Dnai1	UTSW	4	41,597,630 (GRCm39)	missense	probably benign	0.00
R5970:Dnai1	UTSW	4	41,625,281 (GRCm39)	missense	probably benign	0.14
R5987:Dnai1	UTSW	4	41,632,391 (GRCm39)	missense	probably benign	0.03
R6247:Dnai1	UTSW	4	41,605,775 (GRCm39)	missense	probably benign
R6727:Dnai1	UTSW	4	41,625,308 (GRCm39)	missense	probably benign
R6874:Dnai1	UTSW	4	41,632,412 (GRCm39)	missense	probably damaging	1.00
R6914:Dnai1	UTSW	4	41,625,176 (GRCm39)	missense	probably benign	0.01
R7508:Dnai1	UTSW	4	41,614,323 (GRCm39)	missense	probably benign	0.01
R7831:Dnai1	UTSW	4	41,614,695 (GRCm39)	critical splice donor site	probably null
R7832:Dnai1	UTSW	4	41,605,823 (GRCm39)	missense	probably benign	0.42
R7985:Dnai1	UTSW	4	41,630,055 (GRCm39)	missense	probably benign
R8065:Dnai1	UTSW	4	41,614,258 (GRCm39)	missense	probably damaging	1.00
R8067:Dnai1	UTSW	4	41,614,258 (GRCm39)	missense	probably damaging	1.00
R8234:Dnai1	UTSW	4	41,625,221 (GRCm39)	missense	probably benign	0.00
R8906:Dnai1	UTSW	4	41,625,125 (GRCm39)	missense	probably benign	0.00
R9537:Dnai1	UTSW	4	41,629,790 (GRCm39)	critical splice acceptor site	probably null
R9723:Dnai1	UTSW	4	41,603,302 (GRCm39)	missense	possibly damaging	0.95
X0065:Dnai1	UTSW	4	41,629,868 (GRCm39)	missense	possibly damaging	0.89
Z1176:Dnai1	UTSW	4	41,614,323 (GRCm39)	missense	probably benign	0.32
Z1177:Dnai1	UTSW	4	41,569,809 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATGCGCCTATCTCAGAGGAAC -3'
(R):5'- TGTGGACTCCCAGGTACAATTCCAG -3'

Sequencing Primer
(F):5'- TATCTCAGAGGAACCCTGAAAAC -3'
(R):5'- CTGAGACATTCTGTGACAAAGCTG -3'

Posted On

2013-04-11