Mutagenetix > Incidental Mutation

Incidental Mutation 'R9081:Dnai2'

690032

Institutional Source

Beutler Lab

Gene Symbol

Dnai2

Ensembl Gene

ENSMUSG00000034706

Gene Name

dynein axonemal intermediate chain 2

Synonyms

C030015H18Rik, b2b3405Clo, Dnaic2

MMRRC Submission

068900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R9081 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114618234-114648715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114629493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000065787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069325] [ENSMUST00000092469] [ENSMUST00000141762]

AlphaFold

A2AC93

Predicted Effect

probably damaging
Transcript: ENSMUST00000069325
AA Change: D173E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092469
AA Change: D173E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
WD40	441	480	4.93e1	SMART
low complexity region	519	545	N/A	INTRINSIC
low complexity region	559	608	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141762
AA Change: D173E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: D173E

Domain	Start	End	E-Value	Type
low complexity region	127	146	N/A	INTRINSIC
WD40	206	245	2.86e0	SMART
WD40	248	293	3.33e-1	SMART
WD40	353	392	7.92e-3	SMART
WD40	396	436	2.05e1	SMART
low complexity region	458	476	N/A	INTRINSIC
low complexity region	507	533	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC

Meta Mutation Damage Score

0.1278

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,502 (GRCm39)	V271E	probably damaging	Het
Abca1	A	G	4: 53,109,162 (GRCm39)		probably null	Het
Abcb11	C	T	2: 69,122,388 (GRCm39)	C365Y	possibly damaging	Het
Abcd2	A	T	15: 91,075,772 (GRCm39)	W14R	probably damaging	Het
Acmsd	A	G	1: 127,687,468 (GRCm39)	D250G	possibly damaging	Het
Ahnak	T	A	19: 8,985,890 (GRCm39)	D2391E	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Cbr1	G	T	16: 93,406,994 (GRCm39)	G237*	probably null	Het
Cdr2l	T	A	11: 115,284,939 (GRCm39)	V425E	probably damaging	Het
Chd9	A	T	8: 91,704,144 (GRCm39)	K693*	probably null	Het
Clgn	T	G	8: 84,153,169 (GRCm39)	D590E	probably damaging	Het
Col14a1	T	A	15: 55,291,387 (GRCm39)	S952T	unknown	Het
Crip3	T	C	17: 46,740,959 (GRCm39)	L90P	probably benign	Het
Dchs1	A	G	7: 105,403,636 (GRCm39)	S2969P	probably benign	Het
Dnpep	A	T	1: 75,291,060 (GRCm39)	F257Y	probably damaging	Het
Egln2	A	G	7: 26,864,286 (GRCm39)	V213A	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Eps8	A	G	6: 137,504,415 (GRCm39)	I106T	probably benign	Het
Evi5	A	G	5: 107,963,571 (GRCm39)	F379L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fpgs	A	T	2: 32,577,500 (GRCm39)		probably benign	Het
Garnl3	T	G	2: 32,896,920 (GRCm39)	D573A	possibly damaging	Het
Gja8	A	G	3: 96,826,676 (GRCm39)	S329P	probably damaging	Het
Gzf1	T	A	2: 148,525,317 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,366,076 (GRCm39)		probably benign	Het
Ifi203	A	G	1: 173,757,048 (GRCm39)	I245T	unknown	Het
Ighv1-74	C	A	12: 115,766,454 (GRCm39)	W55C	probably damaging	Het
Iqcb1	A	G	16: 36,656,006 (GRCm39)	K131R	probably null	Het
Kit	A	T	5: 75,801,218 (GRCm39)	M539L	probably benign	Het
Klk1	A	G	7: 43,874,952 (GRCm39)		probably benign	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lama5	A	T	2: 179,833,930 (GRCm39)	C1473*	probably null	Het
Loxl3	T	C	6: 83,025,638 (GRCm39)	V332A	possibly damaging	Het
Mcf2l	T	A	8: 13,068,697 (GRCm39)	Y1120N	probably damaging	Het
Meioc	G	A	11: 102,565,001 (GRCm39)	V150M	probably benign	Het
Mybpc1	T	G	10: 88,389,168 (GRCm39)	Y400S	probably damaging	Het
Ncmap	T	C	4: 135,104,292 (GRCm39)		probably benign	Het
Noc2l	A	G	4: 156,326,224 (GRCm39)	Y437C	probably damaging	Het
Nol8	A	T	13: 49,814,881 (GRCm39)	M330L	probably benign	Het
Or10d4c	A	T	9: 39,558,196 (GRCm39)	Y58F	probably damaging	Het
Or5b113	C	T	19: 13,342,019 (GRCm39)	T9I	probably benign	Het
P4ha1	T	C	10: 59,184,185 (GRCm39)	Y216H	probably damaging	Het
Pamr1	A	T	2: 102,441,933 (GRCm39)	D174V	probably damaging	Het
Pdcd1	C	T	1: 93,968,880 (GRCm39)		probably null	Het
Plec	A	G	15: 76,059,908 (GRCm39)	V3343A	probably damaging	Het
Pnliprp1	A	T	19: 58,723,406 (GRCm39)	I266F	probably benign	Het
Poglut2	T	A	1: 44,153,966 (GRCm39)	Q161L	probably benign	Het
Ppp1r12b	C	T	1: 134,705,085 (GRCm39)	V868I	probably benign	Het
Ppp2r2b	A	T	18: 42,781,825 (GRCm39)	H325Q	probably benign	Het
Rif1	C	T	2: 52,000,989 (GRCm39)	T1481I	probably damaging	Het
Rnf213	A	T	11: 119,357,062 (GRCm39)	D4204V		Het
Rps6kl1	T	C	12: 85,185,881 (GRCm39)	N409S	probably damaging	Het
Rundc1	T	G	11: 101,316,053 (GRCm39)	W42G	probably damaging	Het
Sec1	C	T	7: 45,333,987 (GRCm39)		probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shc2	T	C	10: 79,462,762 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,750 (GRCm39)	V95A	possibly damaging	Het
Slc22a5	A	T	11: 53,762,447 (GRCm39)	D333E	probably damaging	Het
Specc1	A	C	11: 62,010,051 (GRCm39)	R522S	possibly damaging	Het
Syne2	C	T	12: 76,016,290 (GRCm39)	Q3291*	probably null	Het
Taar7e	G	A	10: 23,913,893 (GRCm39)	V128I	probably benign	Het
Tdrd3	A	G	14: 87,743,717 (GRCm39)	N555S	probably benign	Het
Themis	C	T	10: 28,544,582 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,964,010 (GRCm39)	V945A	possibly damaging	Het
Tom1	G	A	8: 75,778,151 (GRCm39)	V78I	probably damaging	Het
Usp13	A	G	3: 32,935,542 (GRCm39)	T323A	probably benign	Het
Usp49	T	C	17: 47,984,236 (GRCm39)	S414P	possibly damaging	Het
Vmn1r104	G	A	7: 20,268,378 (GRCm39)	S206N	probably damaging	Het
Vps45	A	T	3: 95,940,125 (GRCm39)	V446E	probably benign	Het
Wwc1	T	C	11: 35,782,331 (GRCm39)	K222R	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	Het

Other mutations in Dnai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Dnai2	APN	11	114,642,614 (GRCm39)	missense	probably benign	0.37
IGL01548:Dnai2	APN	11	114,643,768 (GRCm39)	missense	probably damaging	1.00
IGL02719:Dnai2	APN	11	114,642,737 (GRCm39)	missense	probably damaging	1.00
IGL03236:Dnai2	APN	11	114,648,075 (GRCm39)	unclassified	probably benign
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0096:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R0305:Dnai2	UTSW	11	114,643,720 (GRCm39)	missense	probably benign	0.09
R0472:Dnai2	UTSW	11	114,636,015 (GRCm39)	splice site	probably benign
R0711:Dnai2	UTSW	11	114,645,158 (GRCm39)	missense	probably benign	0.04
R1756:Dnai2	UTSW	11	114,641,206 (GRCm39)	missense	probably benign	0.02
R1861:Dnai2	UTSW	11	114,643,777 (GRCm39)	missense	possibly damaging	0.56
R1916:Dnai2	UTSW	11	114,623,749 (GRCm39)	missense	possibly damaging	0.88
R1981:Dnai2	UTSW	11	114,623,755 (GRCm39)	missense	probably damaging	1.00
R1983:Dnai2	UTSW	11	114,626,682 (GRCm39)	splice site	probably null
R2430:Dnai2	UTSW	11	114,648,012 (GRCm39)	unclassified	probably benign
R2510:Dnai2	UTSW	11	114,647,993 (GRCm39)	unclassified	probably benign
R3001:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3002:Dnai2	UTSW	11	114,641,297 (GRCm39)	missense	probably damaging	1.00
R3113:Dnai2	UTSW	11	114,642,756 (GRCm39)	splice site	probably null
R3803:Dnai2	UTSW	11	114,629,551 (GRCm39)	missense	probably benign
R3874:Dnai2	UTSW	11	114,623,781 (GRCm39)	missense	probably damaging	1.00
R4853:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.03
R5267:Dnai2	UTSW	11	114,631,293 (GRCm39)	missense	probably benign	0.02
R6008:Dnai2	UTSW	11	114,643,816 (GRCm39)	missense	probably benign	0.01
R6024:Dnai2	UTSW	11	114,643,734 (GRCm39)	missense	possibly damaging	0.85
R6819:Dnai2	UTSW	11	114,635,917 (GRCm39)	missense	probably benign	0.00
R7053:Dnai2	UTSW	11	114,629,521 (GRCm39)	missense	probably damaging	1.00
R7143:Dnai2	UTSW	11	114,645,076 (GRCm39)	missense	possibly damaging	0.86
R7208:Dnai2	UTSW	11	114,647,988 (GRCm39)	missense	unknown
R7275:Dnai2	UTSW	11	114,648,054 (GRCm39)	missense	unknown
R7463:Dnai2	UTSW	11	114,645,232 (GRCm39)	missense	probably benign	0.07
R7779:Dnai2	UTSW	11	114,645,235 (GRCm39)	missense	possibly damaging	0.50
R7899:Dnai2	UTSW	11	114,629,456 (GRCm39)	missense	probably benign	0.21
R8443:Dnai2	UTSW	11	114,645,275 (GRCm39)	missense	unknown
R8944:Dnai2	UTSW	11	114,641,302 (GRCm39)	missense	possibly damaging	0.58
R9182:Dnai2	UTSW	11	114,623,839 (GRCm39)	missense	probably benign	0.17
R9335:Dnai2	UTSW	11	114,625,489 (GRCm39)	missense	probably benign	0.01
R9380:Dnai2	UTSW	11	114,635,989 (GRCm39)	missense	probably benign	0.12
RF012:Dnai2	UTSW	11	114,641,242 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTGAACGCAGTCACATAGAC -3'
(R):5'- GGAAGAGACAAGAGCTTTCCTC -3'

Sequencing Primer
(F):5'- TAAACACCTACTTGGGGG -3'
(R):5'- CGCAGGTTGTCTTTGACCC -3'

Posted On

2021-11-19