Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Dnai1'

212822

Institutional Source

Beutler Lab

Gene Symbol

Dnai1

Ensembl Gene

ENSMUSG00000061322

Gene Name

dynein axonemal intermediate chain 1

Synonyms

b2b1526Clo, Dnaic1, 1110066F04Rik

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41569775-41638158 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 41570020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102963] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]

AlphaFold

Q8C0M8

Predicted Effect

probably null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000108049

SMART Domains

Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	157	2.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108050

SMART Domains

Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	156	8.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108052

SMART Domains

Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	37	168	1.6e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146276

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Mterf3	A	T	13: 67,078,126 (GRCm39)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm39)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Phkb	A	G	8: 86,648,790 (GRCm39)	E202G	probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably 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
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'- GCTGATGCTGTTCTACAAGGGC -3'
(R):5'- ATGACTGTGGGTTCAGGAAAATTTG -3'

Sequencing Primer
(F):5'- TGTTCTACAAGGGCGCGAG -3'
(R):5'- TGGGTTCAGGAAAATTTGGGAGAG -3'

Posted On

2014-07-14