Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Dnaic2'

276745

Institutional Source

Beutler Lab

Gene Symbol

Dnaic2

Ensembl Gene

ENSMUSG00000034706

Gene Name

dynein, axonemal, intermediate chain 2

Synonyms

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R3874 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

114727408-114757889 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114732955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 15 (G15W)

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: G15W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: G15W

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: G15W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: G15W

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: ENSMUST00000136403

Predicted Effect

probably damaging
Transcript: ENSMUST00000141762
AA Change: G15W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: G15W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151053

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,121,475	G26*	probably null	Het
Abca5	T	A	11: 110,310,233	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061	I407T	probably benign	Het
Adam8	T	C	7: 139,987,607	N408D	probably damaging	Het
Adgre1	A	T	17: 57,401,925	T39S	probably benign	Het
Akap12	G	A	10: 4,357,590	V1467I	probably benign	Het
Arid1b	T	A	17: 5,336,515		probably null	Het
Atp2c2	A	G	8: 119,735,296	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,991,254	V144I	probably benign	Het
C530008M17Rik	A	G	5: 76,840,892	D30G	probably damaging	Het
Camk4	A	G	18: 33,158,854	E189G	possibly damaging	Het
Casz1	A	G	4: 148,939,589		probably benign	Het
Ccdc134	T	C	15: 82,131,442	V41A	possibly damaging	Het
Chrd	A	T	16: 20,738,910	T753S	probably damaging	Het
Cyb561a3	T	C	19: 10,585,371	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606	T69S	probably benign	Het
Dchs1	A	G	7: 105,761,635	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,749,347	S818P	probably benign	Het
Dnah2	A	G	11: 69,429,348	I3965T	probably damaging	Het
Dsg1c	A	G	18: 20,277,052	I526V	probably benign	Het
Far2	G	A	6: 148,150,591	E123K	probably benign	Het
Gli1	A	T	10: 127,330,219	V1055E	probably damaging	Het
Hand2	G	T	8: 57,321,976	A24S	probably benign	Het
Helb	T	C	10: 120,106,037	I249V	probably benign	Het
Hspa4l	G	A	3: 40,772,642	V492M	probably damaging	Het
Hspg2	T	C	4: 137,539,349	I1916T	probably damaging	Het
Igfals	G	A	17: 24,881,605	V557I	possibly damaging	Het
Itpa	T	G	2: 130,681,010	S176A	probably damaging	Het
Kcnu1	T	A	8: 25,885,317	L353H	probably damaging	Het
Klhl1	A	G	14: 96,518,179	F47L	probably benign	Het
Klhl13	T	C	X: 23,285,176	D21G	probably benign	Het
Krt26	T	C	11: 99,334,744	K304E	probably damaging	Het
Krt9	C	T	11: 100,190,849	V285I	probably damaging	Het
Mansc1	T	C	6: 134,610,183	R344G	possibly damaging	Het
Mier2	G	T	10: 79,541,797	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,225,886		probably null	Het
Nedd4l	G	A	18: 65,167,535	A243T	probably benign	Het
Notch4	T	A	17: 34,578,069	C934*	probably null	Het
Nsmce3	C	T	7: 64,872,168	D251N	probably damaging	Het
Olfr101	T	A	17: 37,299,979	T148S	probably benign	Het
Olfr1156	T	A	2: 87,949,530	R234S	probably damaging	Het
Olfr1310	T	C	2: 112,008,323	T288A	possibly damaging	Het
Olfr139	A	G	11: 74,044,699	C192R	probably damaging	Het
Olfr517	C	T	7: 108,869,128	V9M	probably damaging	Het
Olfr937	A	G	9: 39,060,174	I164T	probably benign	Het
Pdzd7	T	C	19: 45,045,628	T6A	probably benign	Het
Picalm	T	A	7: 90,189,219	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,716,668	M1T	probably null	Het
Prl8a1	T	C	13: 27,575,458	K199E	possibly damaging	Het
Rims1	C	T	1: 22,428,489	R764H	probably damaging	Het
Rnf17	G	T	14: 56,475,413	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,998,137	L294P	probably damaging	Het
Sgsh	A	G	11: 119,350,947	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,336,849	T491K	probably benign	Het
Slc35b3	T	C	13: 38,943,068	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,181,655	F429L	probably benign	Het
Sulf1	T	C	1: 12,817,412	I270T	probably damaging	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tnc	T	A	4: 64,008,710	I860F	probably damaging	Het
Trh	A	T	6: 92,243,698	V61E	possibly damaging	Het
Ttn	T	G	2: 76,754,099	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,361,512	K652*	probably null	Het
Usp34	C	T	11: 23,489,033	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,524,954	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,719,611	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,479,987	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,744,953	A332T	probably benign	Het
Zfp568	T	A	7: 30,023,396	C589S	probably damaging	Het

Other mutations in Dnaic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Dnaic2	APN	11	114751788	missense	probably benign	0.37
IGL01548:Dnaic2	APN	11	114752942	missense	probably damaging	1.00
IGL02719:Dnaic2	APN	11	114751911	missense	probably damaging	1.00
IGL03236:Dnaic2	APN	11	114757249	unclassified	probably benign
R0096:Dnaic2	UTSW	11	114754332	missense	probably benign	0.04
R0096:Dnaic2	UTSW	11	114754332	missense	probably benign	0.04
R0305:Dnaic2	UTSW	11	114752894	missense	probably benign	0.09
R0472:Dnaic2	UTSW	11	114745189	splice site	probably benign
R0711:Dnaic2	UTSW	11	114754332	missense	probably benign	0.04
R1756:Dnaic2	UTSW	11	114750380	missense	probably benign	0.02
R1861:Dnaic2	UTSW	11	114752951	missense	possibly damaging	0.56
R1916:Dnaic2	UTSW	11	114732923	missense	possibly damaging	0.88
R1981:Dnaic2	UTSW	11	114732929	missense	probably damaging	1.00
R1983:Dnaic2	UTSW	11	114735856	splice site	probably null
R2430:Dnaic2	UTSW	11	114757186	unclassified	probably benign
R2510:Dnaic2	UTSW	11	114757167	unclassified	probably benign
R3001:Dnaic2	UTSW	11	114750471	missense	probably damaging	1.00
R3002:Dnaic2	UTSW	11	114750471	missense	probably damaging	1.00
R3113:Dnaic2	UTSW	11	114751930	splice site	probably null
R3803:Dnaic2	UTSW	11	114738725	missense	probably benign
R4853:Dnaic2	UTSW	11	114745091	missense	probably benign	0.03
R5267:Dnaic2	UTSW	11	114740467	missense	probably benign	0.02
R6008:Dnaic2	UTSW	11	114752990	missense	probably benign	0.01
R6024:Dnaic2	UTSW	11	114752908	missense	possibly damaging	0.85
R6819:Dnaic2	UTSW	11	114745091	missense	probably benign	0.00
R7053:Dnaic2	UTSW	11	114738695	missense	probably damaging	1.00
R7143:Dnaic2	UTSW	11	114754250	missense	possibly damaging	0.86
R7208:Dnaic2	UTSW	11	114757162	missense	unknown
R7275:Dnaic2	UTSW	11	114757228	missense	unknown
R7463:Dnaic2	UTSW	11	114754406	missense	probably benign	0.07
R7779:Dnaic2	UTSW	11	114754409	missense	possibly damaging	0.50
R7899:Dnaic2	UTSW	11	114738630	missense	probably benign	0.21
R8443:Dnaic2	UTSW	11	114754449	missense	unknown
R8944:Dnaic2	UTSW	11	114750476	missense	possibly damaging	0.58
R9081:Dnaic2	UTSW	11	114738667	missense	probably damaging	0.97
R9182:Dnaic2	UTSW	11	114733013	missense	probably benign	0.17
R9335:Dnaic2	UTSW	11	114734663	missense	probably benign	0.01
R9380:Dnaic2	UTSW	11	114745163	missense	probably benign	0.12
RF012:Dnaic2	UTSW	11	114750416	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGGAAAGATCCCCTAACCTG -3'
(R):5'- GAGCTGGTGTTGTCTACTCC -3'

Sequencing Primer
(F):5'- GATCCCCTAACCTGGCCCTG -3'
(R):5'- ACCTAGTTTCCTGGTAAGCCAC -3'

Posted On

2015-04-06