Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Dnai2'

93188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnai2

Ensembl Gene

ENSMUSG00000034706

Gene Name

dynein axonemal intermediate chain 2

Synonyms

C030015H18Rik, b2b3405Clo, Dnaic2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

114618234-114648715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114643768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 466 (L466P)

Ref Sequence

ENSEMBL: ENSMUSP00000114700 (fasta)

Gene Model

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

AlphaFold

A2AC93

Predicted Effect

probably damaging
Transcript: ENSMUST00000069325
AA Change: L478P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: L478P

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: L478P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: L478P

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

noncoding transcript
Transcript: ENSMUST00000130692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136403

Predicted Effect

probably damaging
Transcript: ENSMUST00000141762
AA Change: L466P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: L466P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144872

Coding Region Coverage

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,103,863 (GRCm39)	T224I	probably benign	Het
Adamts18	C	T	8: 114,490,931 (GRCm39)	G512E	probably damaging	Het
Atp4b	A	G	8: 13,439,679 (GRCm39)	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,113,346 (GRCm39)	I230V	probably benign	Het
Cenpj	C	A	14: 56,769,776 (GRCm39)	V1138L	probably benign	Het
Cep78	A	G	19: 15,958,564 (GRCm39)		probably benign	Het
Clec2j	T	A	6: 128,632,941 (GRCm39)		noncoding transcript	Het
Col5a3	T	C	9: 20,714,296 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,750,183 (GRCm39)	T105S	probably damaging	Het
Csmd1	A	T	8: 16,338,660 (GRCm39)	Y482*	probably null	Het
Ctrl	C	A	8: 106,659,890 (GRCm39)		probably benign	Het
Dhcr24	T	A	4: 106,431,068 (GRCm39)	C252*	probably null	Het
Dnaaf9	T	C	2: 130,656,179 (GRCm39)	N110D	probably damaging	Het
Dnah17	G	A	11: 117,989,438 (GRCm39)	P1261S	probably benign	Het
Dync2h1	A	T	9: 7,071,922 (GRCm39)	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,433,134 (GRCm39)	S191A	probably damaging	Het
Fat4	G	A	3: 39,063,406 (GRCm39)	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,941,907 (GRCm39)	S267P	probably damaging	Het
Frrs1	T	C	3: 116,678,834 (GRCm39)	C219R	probably damaging	Het
Gabra6	T	A	11: 42,207,850 (GRCm39)	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,634,242 (GRCm39)	C242*	probably null	Het
Gm2840	G	A	5: 96,322,136 (GRCm39)		noncoding transcript	Het
Gmcl1p1	G	A	X: 3,078,226 (GRCm39)	G423S	probably benign	Het
Golim4	C	T	3: 75,815,432 (GRCm39)		probably null	Het
Gucy1b1	G	T	3: 81,942,169 (GRCm39)	T530K	probably damaging	Het
Hacl1	A	T	14: 31,362,553 (GRCm39)	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,502,723 (GRCm39)	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,850,095 (GRCm39)	I26T	probably damaging	Het
Hspa1l	G	A	17: 35,197,367 (GRCm39)	A469T	probably damaging	Het
Htra3	T	A	5: 35,821,420 (GRCm39)		probably null	Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Mfhas1	T	C	8: 36,057,613 (GRCm39)	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252 (GRCm39)	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,496 (GRCm39)	Y188H	probably damaging	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,876,773 (GRCm39)		probably benign	Het
Nckap1l	T	A	15: 103,371,147 (GRCm39)	V213D	probably benign	Het
Ndufa6	C	T	15: 82,238,282 (GRCm39)	V50M	possibly damaging	Het
Or4c35	T	A	2: 89,808,883 (GRCm39)	F254I	possibly damaging	Het
Or5b111	A	G	19: 13,291,350 (GRCm39)	F100L	possibly damaging	Het
Or5g23	A	G	2: 85,439,105 (GRCm39)	W50R	probably benign	Het
Or8b56	A	G	9: 38,739,646 (GRCm39)	T220A	probably benign	Het
Or8k53	T	A	2: 86,178,077 (GRCm39)	Y11F	possibly damaging	Het
Osbpl1a	T	C	18: 12,896,632 (GRCm39)	Y311C	probably damaging	Het
Parp11	A	C	6: 127,468,562 (GRCm39)	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,808,407 (GRCm39)		probably null	Het
Plec	T	C	15: 76,073,458 (GRCm39)	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,534,261 (GRCm39)	Y375N	probably benign	Het
Prss35	C	A	9: 86,637,327 (GRCm39)	S32R	probably benign	Het
Prss57	C	T	10: 79,621,581 (GRCm39)		probably benign	Het
Ptprc	A	C	1: 138,027,219 (GRCm39)		probably null	Het
Rims1	A	G	1: 22,577,683 (GRCm39)	C188R	probably damaging	Het
Ripk4	G	T	16: 97,552,696 (GRCm39)	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,363,728 (GRCm39)		probably benign	Het
Rps6ka4	A	G	19: 6,809,691 (GRCm39)	V378A	probably benign	Het
Rtf1	A	G	2: 119,542,589 (GRCm39)	K298E	probably benign	Het
Sdk1	T	C	5: 142,071,520 (GRCm39)	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slco1a8	A	G	6: 141,938,238 (GRCm39)	I227T	possibly damaging	Het
Sorcs3	A	T	19: 48,782,607 (GRCm39)	I1041F	possibly damaging	Het
Spata31e4	A	G	13: 50,854,414 (GRCm39)	T91A	probably benign	Het
Spata31f3	T	C	4: 42,868,564 (GRCm39)	E353G	probably benign	Het
Taok3	T	C	5: 117,410,262 (GRCm39)	M818T	probably benign	Het
Tas2r119	T	A	15: 32,178,123 (GRCm39)	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,420,385 (GRCm39)	D716G	probably damaging	Het
Tfg	A	G	16: 56,521,465 (GRCm39)	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,217,943 (GRCm39)	I45V	probably damaging	Het
Tle1	A	G	4: 72,088,955 (GRCm39)	L96P	probably damaging	Het
Tmem260	A	C	14: 48,717,782 (GRCm39)	S276R	possibly damaging	Het
Utp20	A	G	10: 88,600,643 (GRCm39)	S24P	probably damaging	Het
Vcam1	T	C	3: 115,909,600 (GRCm39)	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,192,538 (GRCm39)	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,240,893 (GRCm39)	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,282,151 (GRCm39)	I822V	probably benign	Het
Wdr6	C	T	9: 108,452,096 (GRCm39)	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,673,643 (GRCm39)	K132N	possibly damaging	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
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
R9081:Dnai2	UTSW	11	114,629,493 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2013-12-09