Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Dync1i1'

582145

Institutional Source

Beutler Lab

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

DIC, IC74, Dncic1

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5725772-6028030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5969410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 412 (V412L)

Ref Sequence

ENSEMBL: ENSMUSP00000111218 (fasta)

Gene Model

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

AlphaFold

O88485

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115554
AA Change: V403L

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V403L

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 benign
Transcript: ENSMUST00000115555
AA Change: V440L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V440L

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

possibly damaging
Transcript: ENSMUST00000115556
AA Change: V412L

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V412L

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 benign
Transcript: ENSMUST00000115559
AA Change: V423L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V423L

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
IGL01816:Dync1i1	APN	6	5,767,146 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGATGAAATCCAGTCGGCCTG -3'
(R):5'- GCAAGGTGGTTATAATCTAGATGGC -3'

Sequencing Primer
(F):5'- ATACAGAGTGGCCTGGATGTC -3'
(R):5'- CTAGATGGCAAGATTTTGGAAAATG -3'

Posted On

2019-10-17