Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01816:Dync1i1'

154406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

DIC, IC74, Dncic1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

IGL01816

Quality Score

Status

Chromosome

Chromosomal Location

5725772-6028030 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 5767146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115554] [ENSMUST00000115555] [ENSMUST00000115556] [ENSMUST00000115559] [ENSMUST00000153942]

AlphaFold

O88485

Predicted Effect

probably null
Transcript: ENSMUST00000115554

SMART Domains

Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:Dynein_IC2	105	137	3.1e-20	PFAM
low complexity region	143	150	N/A	INTRINSIC
Blast:WD40	235	288	2e-26	BLAST
WD40	293	332	9.6e-2	SMART
WD40	339	382	8.91e-1	SMART
WD40	436	481	4.48e-2	SMART
WD40	484	524	6.19e-1	SMART
WD40	529	569	7.67e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115555

SMART Domains

Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	92	107	N/A	INTRINSIC
Pfam:Dynein_IC2	143	173	6.9e-18	PFAM
low complexity region	180	187	N/A	INTRINSIC
Blast:WD40	272	325	4e-26	BLAST
WD40	330	369	9.6e-2	SMART
WD40	376	419	8.91e-1	SMART
WD40	473	518	4.48e-2	SMART
WD40	521	561	6.19e-1	SMART
WD40	566	606	7.67e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115556

SMART Domains

Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
Pfam:Dynein_IC2	114	146	9.2e-21	PFAM
low complexity region	152	159	N/A	INTRINSIC
Blast:WD40	245	297	3e-26	BLAST
WD40	302	341	9.6e-2	SMART
WD40	348	391	8.91e-1	SMART
WD40	445	490	4.48e-2	SMART
WD40	493	533	6.19e-1	SMART
WD40	538	578	7.67e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115559

SMART Domains

Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	1	44	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:Dynein_IC2	125	157	2e-20	PFAM
low complexity region	163	170	N/A	INTRINSIC
Blast:WD40	256	308	3e-26	BLAST
WD40	313	352	9.6e-2	SMART
WD40	359	402	8.91e-1	SMART
WD40	456	501	4.48e-2	SMART
WD40	504	544	6.19e-1	SMART
WD40	549	589	7.67e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153942

SMART Domains

Protein: ENSMUSP00000121787
Gene: ENSMUSG00000029757

Domain	Start	End	E-Value	Type
coiled coil region	45	91	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000204149

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,677,168 (GRCm39)	T1888S	probably benign	Het
Asxl3	T	C	18: 22,655,545 (GRCm39)	V1185A	probably benign	Het
Bmp8a	G	A	4: 123,210,190 (GRCm39)	R299C	probably damaging	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Ccr2	A	T	9: 123,906,235 (GRCm39)	I172L	probably benign	Het
Cyp2j11	T	G	4: 96,183,161 (GRCm39)	Q469P	probably damaging	Het
Epb41	A	G	4: 131,731,006 (GRCm39)	S192P	probably benign	Het
Gpd2	T	A	2: 57,254,078 (GRCm39)	Y601*	probably null	Het
Ift140	G	A	17: 25,305,999 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,886,605 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,957,840 (GRCm39)		probably benign	Het
Pcdhb13	A	C	18: 37,576,028 (GRCm39)	R135S	probably benign	Het
Phtf2	A	T	5: 21,008,274 (GRCm39)	W136R	probably damaging	Het
Prpf40b	G	A	15: 99,213,099 (GRCm39)	A662T	probably damaging	Het
Retsat	A	G	6: 72,578,588 (GRCm39)	N100S	probably benign	Het
Saxo1	T	A	4: 86,363,851 (GRCm39)	M211L	probably benign	Het
Slc5a9	A	G	4: 111,755,811 (GRCm39)	L29P	probably damaging	Het
St14	A	G	9: 31,019,563 (GRCm39)	V86A	possibly damaging	Het
Tfap4	T	C	16: 4,369,956 (GRCm39)	N13S	probably damaging	Het

Other mutations in Dync1i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Dync1i1	APN	6	5,972,135 (GRCm39)	missense	probably damaging	1.00
IGL02171:Dync1i1	APN	6	5,969,498 (GRCm39)	missense	probably damaging	0.98
IGL02646:Dync1i1	APN	6	5,767,034 (GRCm39)	missense	probably benign	0.12
IGL02672:Dync1i1	APN	6	5,767,034 (GRCm39)	missense	probably benign	0.12
IGL02691:Dync1i1	APN	6	5,800,767 (GRCm39)	splice site	probably benign
IGL02880:Dync1i1	APN	6	5,966,821 (GRCm39)	splice site	probably null
IGL02796:Dync1i1	UTSW	6	5,757,385 (GRCm39)	missense	probably benign	0.00
R0519:Dync1i1	UTSW	6	6,027,399 (GRCm39)	missense	probably benign
R1404:Dync1i1	UTSW	6	5,915,876 (GRCm39)	missense	probably damaging	1.00
R1404:Dync1i1	UTSW	6	5,915,876 (GRCm39)	missense	probably damaging	1.00
R1499:Dync1i1	UTSW	6	5,769,799 (GRCm39)	splice site	probably benign
R2119:Dync1i1	UTSW	6	5,767,096 (GRCm39)	missense	probably damaging	0.97
R3177:Dync1i1	UTSW	6	5,972,211 (GRCm39)	critical splice donor site	probably null
R3277:Dync1i1	UTSW	6	5,972,211 (GRCm39)	critical splice donor site	probably null
R4028:Dync1i1	UTSW	6	5,961,842 (GRCm39)	missense	probably damaging	1.00
R4058:Dync1i1	UTSW	6	5,769,764 (GRCm39)	missense	probably damaging	0.99
R4551:Dync1i1	UTSW	6	5,923,206 (GRCm39)	missense	probably benign	0.01
R4748:Dync1i1	UTSW	6	5,767,048 (GRCm39)	missense	possibly damaging	0.66
R5263:Dync1i1	UTSW	6	5,969,446 (GRCm39)	missense	possibly damaging	0.88
R6193:Dync1i1	UTSW	6	5,730,679 (GRCm39)	missense	probably benign	0.03
R6280:Dync1i1	UTSW	6	5,972,084 (GRCm39)	missense	probably benign	0.00
R6933:Dync1i1	UTSW	6	5,913,333 (GRCm39)	missense	probably damaging	1.00
R7083:Dync1i1	UTSW	6	5,969,429 (GRCm39)	missense	probably damaging	1.00
R7347:Dync1i1	UTSW	6	5,784,530 (GRCm39)	makesense	probably null
R7512:Dync1i1	UTSW	6	5,969,410 (GRCm39)	missense	possibly damaging	0.88
R7543:Dync1i1	UTSW	6	5,784,464 (GRCm39)	missense	possibly damaging	0.93
R7601:Dync1i1	UTSW	6	5,905,129 (GRCm39)	missense	probably benign	0.19
R8349:Dync1i1	UTSW	6	5,966,815 (GRCm39)	missense	possibly damaging	0.88
R8449:Dync1i1	UTSW	6	5,966,815 (GRCm39)	missense	possibly damaging	0.88
R8518:Dync1i1	UTSW	6	5,913,330 (GRCm39)	missense	probably damaging	0.97
R8766:Dync1i1	UTSW	6	5,767,142 (GRCm39)	missense	possibly damaging	0.57
R9242:Dync1i1	UTSW	6	5,769,706 (GRCm39)	missense	probably benign
R9253:Dync1i1	UTSW	6	5,769,698 (GRCm39)	missense	probably benign	0.00
R9375:Dync1i1	UTSW	6	5,913,443 (GRCm39)	missense	possibly damaging	0.94
X0010:Dync1i1	UTSW	6	5,972,141 (GRCm39)	missense	probably benign	0.06
Z1177:Dync1i1	UTSW	6	5,767,057 (GRCm39)	missense	probably benign

Posted On

2014-02-04