Mutagenetix > Incidental Mutation

Incidental Mutation 'R9723:Dnai1'

730899

Institutional Source

Beutler Lab

Gene Symbol

Dnai1

Ensembl Gene

ENSMUSG00000061322

Gene Name

dynein axonemal intermediate chain 1

Synonyms

b2b1526Clo, Dnaic1, 1110066F04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R9723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41569775-41638158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41603302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 195 (F195C)

Ref Sequence

ENSEMBL: ENSMUSP00000100028 (fasta)

Gene Model

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

AlphaFold

Q8C0M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102963
AA Change: F195C

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: F195C

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	G	A	1: 75,156,366 (GRCm39)	R133W	probably benign	Het
Abcc3	T	A	11: 94,250,725 (GRCm39)	T877S	probably benign	Het
Alb	A	T	5: 90,611,962 (GRCm39)	K130N	probably damaging	Het
Alkbh8	G	A	9: 3,385,283 (GRCm39)	S560N	probably benign	Het
Angel2	T	G	1: 190,671,342 (GRCm39)	L234R	probably damaging	Het
Catip	C	T	1: 74,403,745 (GRCm39)	T154I	probably benign	Het
Ccdc163	C	T	4: 116,569,595 (GRCm39)	Q102*	probably null	Het
Cep250	A	G	2: 155,823,337 (GRCm39)	E997G	probably benign	Het
Ces2f	T	C	8: 105,677,463 (GRCm39)	I183T	possibly damaging	Het
Commd8	A	G	5: 72,318,309 (GRCm39)	V158A	possibly damaging	Het
Cyp2b9	C	T	7: 25,909,596 (GRCm39)	Q455*	probably null	Het
D5Ertd579e	G	T	5: 36,772,284 (GRCm39)	H704N	probably damaging	Het
Dnah1	T	C	14: 30,987,946 (GRCm39)	T3491A	probably damaging	Het
Dock7	A	G	4: 98,908,270 (GRCm39)	V620A		Het
Dock7	A	T	4: 98,960,660 (GRCm39)	D289E		Het
Dpys	T	A	15: 39,691,509 (GRCm39)	E271V	probably damaging	Het
Elovl3	T	C	19: 46,123,155 (GRCm39)	Y244H	probably damaging	Het
Enam	G	A	5: 88,652,241 (GRCm39)	G1250E	probably damaging	Het
Espl1	C	T	15: 102,229,170 (GRCm39)	T1774M	probably benign	Het
Fasl	T	C	1: 161,615,535 (GRCm39)	K107R	probably benign	Het
Fbn1	A	T	2: 125,202,119 (GRCm39)	C1251*	probably null	Het
Fn1	G	T	1: 71,663,369 (GRCm39)	Q1040K	possibly damaging	Het
Frem3	C	T	8: 81,341,352 (GRCm39)	S1215L	probably benign	Het
G3bp2	A	T	5: 92,214,388 (GRCm39)	D135E	possibly damaging	Het
Gabpb1	C	T	2: 126,488,648 (GRCm39)	V240I	probably benign	Het
Galnt12	C	G	4: 47,119,541 (GRCm39)	Y452*	probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gm12258	C	T	11: 58,750,448 (GRCm39)	P541L	unknown	Het
Gm12789	T	A	4: 101,846,083 (GRCm39)	W115R	possibly damaging	Het
Gm8126	T	C	14: 43,119,141 (GRCm39)		probably null	Het
Gpr179	A	T	11: 97,225,546 (GRCm39)	L2203H	possibly damaging	Het
H1f6	A	G	13: 23,879,906 (GRCm39)	K20E	probably damaging	Het
Hapln3	A	T	7: 78,771,736 (GRCm39)	V51E	possibly damaging	Het
Ifit1	A	G	19: 34,626,257 (GRCm39)	*464W	probably null	Het
Il1r1	A	C	1: 40,332,721 (GRCm39)	I137L	probably benign	Het
Il1rap	T	A	16: 26,442,907 (GRCm39)	M1K	probably null	Het
Lgi2	A	G	5: 52,695,843 (GRCm39)	L372P	probably damaging	Het
Lrrc46	A	G	11: 96,925,773 (GRCm39)	S230P	possibly damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mapk8ip3	C	A	17: 25,132,585 (GRCm39)	W339L	possibly damaging	Het
Msln	A	T	17: 25,969,008 (GRCm39)	M459K	possibly damaging	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Ndst2	G	T	14: 20,775,512 (GRCm39)	D659E	probably benign	Het
Npat	T	A	9: 53,473,746 (GRCm39)	S513T	probably benign	Het
Npat	T	G	9: 53,481,861 (GRCm39)	L1190V	probably damaging	Het
Npc1	A	G	18: 12,343,649 (GRCm39)	I448T	probably benign	Het
Omd	T	C	13: 49,743,838 (GRCm39)	F296S	probably damaging	Het
Oprm1	A	G	10: 6,788,514 (GRCm39)	N423S	possibly damaging	Het
Oxtr	G	A	6: 112,466,304 (GRCm39)	T152I	probably benign	Het
Pak2	A	T	16: 31,852,650 (GRCm39)	V297E	probably damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pet100	G	A	8: 3,672,374 (GRCm39)	M20I	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Plekhn1	A	G	4: 156,306,875 (GRCm39)	S505P	probably benign	Het
Plin5	G	A	17: 56,423,290 (GRCm39)	A90V	probably damaging	Het
Poc5	A	G	13: 96,551,026 (GRCm39)	T526A	probably benign	Het
Potefam1	T	C	2: 111,058,700 (GRCm39)	H84R	probably damaging	Het
Pramel7	C	T	2: 87,320,019 (GRCm39)	V425I	possibly damaging	Het
Rad51d	A	T	11: 82,781,162 (GRCm39)		probably null	Het
Rbp3	T	C	14: 33,677,474 (GRCm39)	M474T	possibly damaging	Het
Rcan3	A	G	4: 135,152,680 (GRCm39)	S14P	probably benign	Het
Rps6ka4	A	T	19: 6,816,663 (GRCm39)	V140E	probably damaging	Het
Rsbn1l	G	A	5: 21,101,464 (GRCm39)	S692L	possibly damaging	Het
Sgk1	A	T	10: 21,872,239 (GRCm39)	I272F	probably damaging	Het
Skor1	A	G	9: 63,053,714 (GRCm39)	V85A	probably damaging	Het
Slc12a1	A	T	2: 125,059,827 (GRCm39)	D909V	probably damaging	Het
Slc25a18	C	A	6: 120,770,489 (GRCm39)	A283E	probably benign	Het
Slc41a1	T	C	1: 131,772,103 (GRCm39)	L411P	possibly damaging	Het
Spata13	T	C	14: 60,928,498 (GRCm39)	S19P	probably damaging	Het
Stab1	T	A	14: 30,885,848 (GRCm39)	H42L	probably benign	Het
Stag3	T	A	5: 138,298,103 (GRCm39)	D698E	probably benign	Het
Syngap1	G	A	17: 27,189,510 (GRCm39)	R1305H	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trappc9	A	G	15: 72,461,963 (GRCm39)	Y1101H	possibly damaging	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Uhrf1	A	G	17: 56,625,061 (GRCm39)	K535E	probably damaging	Het
Usp14	G	T	18: 10,009,993 (GRCm39)	Q185K	probably damaging	Het
Usp32	A	T	11: 84,935,536 (GRCm39)	Y413*	probably null	Het
Uvssa	G	A	5: 33,547,382 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,774 (GRCm39)	L34Q	probably damaging	Het
Wdr41	T	C	13: 95,151,671 (GRCm39)	L277P	probably damaging	Het
Zc2hc1b	T	A	10: 13,044,497 (GRCm39)	L55F	probably damaging	Het
Zfp345	A	C	2: 150,314,189 (GRCm39)	Y449*	probably null	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
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
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'- TTCTGGCAGCATCCTCACAC -3'
(R):5'- ACTTACAGGGACTCCAGTTCAC -3'

Sequencing Primer
(F):5'- CTACCCATTTCACCAGGTCAGGG -3'
(R):5'- GGGACTCCAGTTCACATACAG -3'

Posted On

2022-10-06