Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Dync1i1'

258258

Institutional Source

Beutler Lab

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

IC74, Dncic1, DIC

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R3277 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

5725639-6028039 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 5972211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111221 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000130004

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Dync1i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Dync1i1	APN	6	5972135	missense	probably damaging	1.00
IGL01816:Dync1i1	APN	6	5767146	critical splice donor site	probably null
IGL02171:Dync1i1	APN	6	5969498	missense	probably damaging	0.98
IGL02646:Dync1i1	APN	6	5767034	missense	probably benign	0.12
IGL02672:Dync1i1	APN	6	5767034	missense	probably benign	0.12
IGL02691:Dync1i1	APN	6	5800767	splice site	probably benign
IGL02880:Dync1i1	APN	6	5966821	splice site	probably null
IGL02796:Dync1i1	UTSW	6	5757385	missense	probably benign	0.00
R0519:Dync1i1	UTSW	6	6027399	missense	probably benign
R1404:Dync1i1	UTSW	6	5915876	missense	probably damaging	1.00
R1404:Dync1i1	UTSW	6	5915876	missense	probably damaging	1.00
R1499:Dync1i1	UTSW	6	5769799	splice site	probably benign
R2119:Dync1i1	UTSW	6	5767096	missense	probably damaging	0.97
R3177:Dync1i1	UTSW	6	5972211	critical splice donor site	probably null
R4028:Dync1i1	UTSW	6	5961842	missense	probably damaging	1.00
R4058:Dync1i1	UTSW	6	5769764	missense	probably damaging	0.99
R4551:Dync1i1	UTSW	6	5923206	missense	probably benign	0.01
R4748:Dync1i1	UTSW	6	5767048	missense	possibly damaging	0.66
R5263:Dync1i1	UTSW	6	5969446	missense	possibly damaging	0.88
R6193:Dync1i1	UTSW	6	5730679	missense	probably benign	0.03
R6280:Dync1i1	UTSW	6	5972084	missense	probably benign	0.00
R6933:Dync1i1	UTSW	6	5913333	missense	probably damaging	1.00
R7083:Dync1i1	UTSW	6	5969429	missense	probably damaging	1.00
R7347:Dync1i1	UTSW	6	5784530	makesense	probably null
R7512:Dync1i1	UTSW	6	5969410	missense	possibly damaging	0.88
R7543:Dync1i1	UTSW	6	5784464	missense	possibly damaging	0.93
R7601:Dync1i1	UTSW	6	5905129	missense	probably benign	0.19
R8349:Dync1i1	UTSW	6	5966815	missense	possibly damaging	0.88
R8449:Dync1i1	UTSW	6	5966815	missense	possibly damaging	0.88
R8518:Dync1i1	UTSW	6	5913330	missense	probably damaging	0.97
R8766:Dync1i1	UTSW	6	5767142	missense	possibly damaging	0.57
R9242:Dync1i1	UTSW	6	5769706	missense	probably benign
R9253:Dync1i1	UTSW	6	5769698	missense	probably benign	0.00
R9375:Dync1i1	UTSW	6	5913443	missense	possibly damaging	0.94
X0010:Dync1i1	UTSW	6	5972141	missense	probably benign	0.06
Z1177:Dync1i1	UTSW	6	5767057	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCACTGAAATGCTTCGTG -3'
(R):5'- AGCACTGTGGAGTCATCATTATTTG -3'

Sequencing Primer
(F):5'- GTGTTTTCTTTCTGCAGCAAAGC -3'
(R):5'- CCATAGGCTGCCTGAATT -3'

Posted On

2015-01-23