Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Dnai1'

45448

Institutional Source

Beutler Lab

Gene Symbol

Dnai1

Ensembl Gene

ENSMUSG00000061322

Gene Name

dynein axonemal intermediate chain 1

Synonyms

b2b1526Clo, Dnaic1, 1110066F04Rik

MMRRC Submission

038747-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R0555 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

41569775-41638158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41625335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 433 (T433K)

Ref Sequence

ENSEMBL: ENSMUSP00000100028 (fasta)

Gene Model

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

AlphaFold

Q8C0M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102963
AA Change: T433K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: T433K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,661,516 (GRCm39)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,670 (GRCm39)		probably benign	Het
Asap1	A	G	15: 63,966,213 (GRCm39)	L941P	probably damaging	Het
Aurka	G	A	2: 172,209,067 (GRCm39)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm39)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,293,503 (GRCm39)	A418T	possibly damaging	Het
Cplx3	T	C	9: 57,521,384 (GRCm39)	T193A	probably benign	Het
Cpxm2	A	T	7: 131,645,772 (GRCm39)	Y715*	probably null	Het
Csmd1	T	C	8: 16,235,287 (GRCm39)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,423,307 (GRCm39)	F632I	probably damaging	Het
Dpyd	G	A	3: 119,225,191 (GRCm39)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,044,862 (GRCm39)		probably null	Het
Dync1li2	A	T	8: 105,147,297 (GRCm39)	S466T	probably benign	Het
Ears2	T	C	7: 121,647,667 (GRCm39)	T206A	probably benign	Het
Elmod1	A	T	9: 53,838,876 (GRCm39)		probably benign	Het
Eps8l3	C	A	3: 107,799,661 (GRCm39)	D590E	probably benign	Het
Etfdh	A	T	3: 79,513,112 (GRCm39)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,598,489 (GRCm39)	A792E	probably benign	Het
Ffar3	G	T	7: 30,554,962 (GRCm39)	Y119*	probably null	Het
Fosb	G	T	7: 19,041,138 (GRCm39)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,401,175 (GRCm39)	L3F	probably damaging	Het
Foxo4	A	G	X: 100,298,784 (GRCm39)	K65E	probably damaging	Het
Frem2	A	G	3: 53,424,281 (GRCm39)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,498,149 (GRCm39)	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927 (GRCm39)	G429C	probably damaging	Het
Gimap1	T	C	6: 48,718,363 (GRCm39)		probably benign	Het
Gnas	A	G	2: 174,140,304 (GRCm39)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,789,740 (GRCm39)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm39)		probably benign	Het
H2-M10.5	G	A	17: 37,085,620 (GRCm39)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,225,222 (GRCm39)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,411,526 (GRCm39)	T1058N	probably damaging	Het
Heph	A	T	X: 95,601,690 (GRCm39)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,034,514 (GRCm39)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,721,744 (GRCm39)		probably benign	Het
Ipo11	A	T	13: 107,028,969 (GRCm39)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,276,217 (GRCm39)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,061,568 (GRCm39)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,758,868 (GRCm39)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,731,664 (GRCm39)	P462R	unknown	Het
Lrit3	A	T	3: 129,584,945 (GRCm39)	V271D	probably damaging	Het
Map4	T	A	9: 109,808,171 (GRCm39)		probably benign	Het
Mark4	A	C	7: 19,182,598 (GRCm39)		probably benign	Het
Mfsd14b	A	G	13: 65,226,259 (GRCm39)	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,208,227 (GRCm39)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 44,994,391 (GRCm39)		probably benign	Het
Mrpl47	A	G	3: 32,790,842 (GRCm39)	F16S	probably benign	Het
Myh2	G	T	11: 67,069,793 (GRCm39)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,412,464 (GRCm39)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,467,148 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,390 (GRCm39)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,259,604 (GRCm39)		probably null	Het
Nphp3	C	A	9: 103,900,633 (GRCm39)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,183,118 (GRCm39)		probably null	Het
Or14c39	A	G	7: 86,344,516 (GRCm39)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or52ab7	T	C	7: 102,978,170 (GRCm39)	V159A	probably benign	Het
Or6c2	T	C	10: 129,362,765 (GRCm39)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,656,130 (GRCm39)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,336,088 (GRCm39)	L130S	probably benign	Het
Phtf1	C	A	3: 103,911,785 (GRCm39)	T709K	probably damaging	Het
Plek2	A	T	12: 78,938,946 (GRCm39)	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,191,926 (GRCm39)	C421*	probably null	Het
Polk	A	C	13: 96,620,687 (GRCm39)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,328,381 (GRCm39)	S471P	probably damaging	Het
Prickle2	A	T	6: 92,435,546 (GRCm39)	F74L	probably benign	Het
Prl7d1	A	T	13: 27,896,038 (GRCm39)	V113D	probably benign	Het
Prr14	C	T	7: 127,071,267 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ret	A	G	6: 118,155,571 (GRCm39)	V375A	probably damaging	Het
Rora	T	C	9: 69,269,028 (GRCm39)	F41S	probably damaging	Het
Sall1	T	C	8: 89,758,386 (GRCm39)	T573A	probably benign	Het
Shb	A	G	4: 45,458,321 (GRCm39)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,569,391 (GRCm39)		probably null	Het
Sltm	T	C	9: 70,493,363 (GRCm39)	F769L	probably damaging	Het
Snx9	T	A	17: 5,968,688 (GRCm39)	M328K	probably damaging	Het
Stk25	G	T	1: 93,552,313 (GRCm39)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm39)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,016,169 (GRCm39)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,738,545 (GRCm39)	F74I	probably benign	Het
Trcg1	C	T	9: 57,149,616 (GRCm39)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,006,505 (GRCm39)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,209,511 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,727,439 (GRCm39)	H827R	probably damaging	Het
Tut7	A	G	13: 59,948,131 (GRCm39)	V328A	probably benign	Het
Urgcp	T	C	11: 5,667,477 (GRCm39)	E287G	probably damaging	Het
Usp2	G	T	9: 44,004,081 (GRCm39)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,204,512 (GRCm39)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,442 (GRCm39)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,577,952 (GRCm39)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,129,283 (GRCm39)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,670,818 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm39)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,653,028 (GRCm39)		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
R0114:Dnai1	UTSW	4	41,605,686 (GRCm39)	splice site	probably benign
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
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'- CATGTTCAGCAGTGAGAGTGGCATC -3'
(R):5'- GTCTTGGCAGACAACTAAGGTCTCC -3'

Sequencing Primer
(F):5'- AGAGTGGCATCATGTGTCTG -3'
(R):5'- CTAAGGTCTCCCTGATAGAGCTTATG -3'

Posted On

2013-06-11