Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Dnai1'

220098

Institutional Source

Beutler Lab

Gene Symbol

Dnai1

Ensembl Gene

ENSMUSG00000061322

Gene Name

dynein axonemal intermediate chain 1

Synonyms

b2b1526Clo, Dnaic1, 1110066F04Rik

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41569775-41638158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41603232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 172 (K172E)

Ref Sequence

ENSEMBL: ENSMUSP00000100028 (fasta)

Gene Model

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

AlphaFold

Q8C0M8

Predicted Effect

probably benign
Transcript: ENSMUST00000102963
AA Change: K172E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: K172E

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly damaging	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
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
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'- TCCCTGCCATTGAGATAAGCTG -3'
(R):5'- CACAAGCAAGAACTGATCTCGG -3'

Sequencing Primer
(F):5'- CCATTGAGATAAGCTGTGGGTG -3'
(R):5'- AAGAACTGATCTCGGGCCCG -3'

Posted On

2014-08-25