Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Dync1i1'

48383

Institutional Source

Beutler Lab

Gene Symbol

Dync1i1

Ensembl Gene

ENSMUSG00000029757

Gene Name

dynein cytoplasmic 1 intermediate chain 1

Synonyms

DIC, IC74, Dncic1

MMRRC Submission

038712-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R0519 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

5725772-6028030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6027399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 602 (T602A)

Ref Sequence

ENSEMBL: ENSMUSP00000111221 (fasta)

Gene Model

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

AlphaFold

O88485

Predicted Effect

probably benign
Transcript: ENSMUST00000115554
AA Change: T582A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: T582A

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: T619A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: T619A

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 benign
Transcript: ENSMUST00000115556
AA Change: T591A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: T591A

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: T602A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: T602A

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: ENSMUST00000203520

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,696,067 (GRCm39)	R168G	probably benign	Het
2810004N23Rik	C	T	8: 125,566,668 (GRCm39)	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,384,919 (GRCm39)	S349P	possibly damaging	Het
Ackr4	A	G	9: 103,976,650 (GRCm39)	V99A	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Asxl3	A	G	18: 22,656,577 (GRCm39)	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,874,477 (GRCm39)	E46G	probably benign	Het
Cdcp2	A	G	4: 106,964,389 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,318,089 (GRCm39)		probably benign	Het
Clip2	A	G	5: 134,545,005 (GRCm39)	V383A	probably benign	Het
Cntln	C	T	4: 84,923,290 (GRCm39)		probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,380,798 (GRCm39)	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,613,244 (GRCm39)	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,469,391 (GRCm39)	R755Q	probably benign	Het
Dsn1	A	T	2: 156,840,633 (GRCm39)		probably benign	Het
Dtd2	T	C	12: 52,051,742 (GRCm39)		probably benign	Het
Ercc6	A	C	14: 32,248,799 (GRCm39)	D450A	probably damaging	Het
Fgf12	A	T	16: 28,008,380 (GRCm39)	V104D	probably benign	Het
Frem1	A	T	4: 82,888,870 (GRCm39)		probably null	Het
Gcgr	G	T	11: 120,426,982 (GRCm39)	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Hapln1	A	G	13: 89,732,835 (GRCm39)		probably benign	Het
Hmgn3	T	C	9: 82,994,301 (GRCm39)	E40G	probably damaging	Het
Hsdl1	G	A	8: 120,292,450 (GRCm39)	A255V	probably damaging	Het
Hyls1	T	C	9: 35,472,499 (GRCm39)	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122 (GRCm39)		probably benign	Het
Kif14	C	A	1: 136,396,885 (GRCm39)	A397E	probably damaging	Het
Lcmt2	A	T	2: 120,969,825 (GRCm39)		probably null	Het
Lifr	T	C	15: 7,207,061 (GRCm39)	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,301,828 (GRCm39)	K209E	possibly damaging	Het
Macf1	G	A	4: 123,365,113 (GRCm39)	T1651I	probably benign	Het
Mapk4	T	C	18: 74,103,392 (GRCm39)	D39G	probably damaging	Het
Mbl1	A	G	14: 40,880,522 (GRCm39)	M137V	probably damaging	Het
Mcm10	G	A	2: 5,013,356 (GRCm39)	S92L	probably benign	Het
Mug1	A	G	6: 121,828,383 (GRCm39)	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,701,612 (GRCm39)		probably null	Het
Neu3	G	A	7: 99,472,524 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,460,648 (GRCm39)	T2395A	probably benign	Het
Or1j1	T	A	2: 36,702,627 (GRCm39)	H159L	probably damaging	Het
Or5m9	A	T	2: 85,877,411 (GRCm39)	Y195F	probably benign	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Or7g34	A	T	9: 19,478,245 (GRCm39)	I145N	probably benign	Het
Osgepl1	T	C	1: 53,360,255 (GRCm39)	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,649,085 (GRCm39)	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,599,092 (GRCm39)		probably benign	Het
Ptprq	A	C	10: 107,374,781 (GRCm39)		probably benign	Het
Pus10	T	A	11: 23,661,201 (GRCm39)	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809 (GRCm39)	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,585,498 (GRCm39)	F756L	probably damaging	Het
Scn11a	A	G	9: 119,619,185 (GRCm39)	L719P	probably damaging	Het
Slc2a2	G	A	3: 28,772,965 (GRCm39)	V253I	possibly damaging	Het
Slc39a4	A	T	15: 76,499,338 (GRCm39)	N192K	probably benign	Het
Soat1	T	A	1: 156,268,816 (GRCm39)	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,188,534 (GRCm39)	A858V	probably benign	Het
Tcim	T	C	8: 24,928,651 (GRCm39)	T88A	possibly damaging	Het
Tecta	G	A	9: 42,259,188 (GRCm39)		probably benign	Het
Tgm5	C	A	2: 120,879,376 (GRCm39)	L553F	probably damaging	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmem214	A	C	5: 31,027,012 (GRCm39)	M1L	probably null	Het
Togaram1	T	C	12: 65,012,776 (GRCm39)		probably benign	Het
Topaz1	C	A	9: 122,578,544 (GRCm39)	L485I	possibly damaging	Het
Ttn	T	C	2: 76,548,626 (GRCm39)		probably benign	Het
Ube2o	A	G	11: 116,437,285 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,734,465 (GRCm39)	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,629,102 (GRCm39)	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,792,102 (GRCm39)	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,659,765 (GRCm39)	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,567,826 (GRCm39)	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,191,172 (GRCm39)	A118T	probably benign	Het
Zp2	A	G	7: 119,737,372 (GRCm39)	I272T	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTTAAGCTCCAGACTTCAGGTCC -3'
(R):5'- GGGAAACACTGCACAATATGGCAC -3'

Sequencing Primer
(F):5'- AGGTCCCCCCTAATTCTCACAG -3'
(R):5'- TGCCACGGGGATACTGATAC -3'

Posted On

2013-06-12