Mutagenetix > Incidental Mutation

Incidental Mutation 'R4664:Dync2i1'

353128

Institutional Source

Beutler Lab

Gene Symbol

Dync2i1

Ensembl Gene

ENSMUSG00000042050

Gene Name

dynein 2 intermediate chain 1

Synonyms

Dync2l1, D430033N04Rik, Wdr60

MMRRC Submission

041922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4664 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116169882-116226642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116219831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

Ref Sequence

ENSEMBL: ENSMUSP00000047334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039349] [ENSMUST00000222679]

AlphaFold

Q8C761

Predicted Effect

probably damaging
Transcript: ENSMUST00000039349
AA Change: E37G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: E37G

Domain	Start	End	E-Value	Type
coiled coil region	84	122	N/A	INTRINSIC
low complexity region	168	193	N/A	INTRINSIC
low complexity region	226	242	N/A	INTRINSIC
coiled coil region	280	309	N/A	INTRINSIC
low complexity region	319	337	N/A	INTRINSIC
low complexity region	439	453	N/A	INTRINSIC
WD40	629	668	2.77e-1	SMART
Blast:WD40	694	755	2e-7	BLAST
WD40	846	881	3.84e0	SMART
WD40	884	926	5.55e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221029

Predicted Effect

probably benign
Transcript: ENSMUST00000222679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223039

Meta Mutation Damage Score

0.0840

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (110/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	A	G	6: 125,840,501 (GRCm39)	I391V	probably benign	Het
Apc	T	A	18: 34,431,647 (GRCm39)	L349M	probably damaging	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Atp8a1	T	A	5: 67,919,929 (GRCm39)	D379V	possibly damaging	Het
Aurkb	A	G	11: 68,939,435 (GRCm39)	K173E	probably damaging	Het
Bak1	T	C	17: 27,241,510 (GRCm39)	I83V	possibly damaging	Het
Btbd17	A	C	11: 114,684,832 (GRCm39)	V69G	probably damaging	Het
Cacna1a	T	A	8: 85,328,396 (GRCm39)	Y1597*	probably null	Het
Camk2a	C	A	18: 61,088,696 (GRCm39)	Q167K	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Ccer2	A	G	7: 28,455,928 (GRCm39)	E40G	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Cdkl2	T	C	5: 92,185,124 (GRCm39)	D89G	probably damaging	Het
Cep128	G	T	12: 91,263,027 (GRCm39)	R291S	probably damaging	Het
Cert1	T	C	13: 96,735,965 (GRCm39)	V175A	probably benign	Het
Chd4	A	G	6: 125,078,465 (GRCm39)	M203V	possibly damaging	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cic	TGTTGCCCTC	T	7: 24,990,099 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,144,214 (GRCm39)	I152L	possibly damaging	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col16a1	A	C	4: 129,955,883 (GRCm39)		probably benign	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cyth2	T	C	7: 45,460,143 (GRCm39)	D183G	probably damaging	Het
Ddx47	A	T	6: 134,989,319 (GRCm39)	T48S	possibly damaging	Het
Dgkk	A	G	X: 6,794,751 (GRCm39)	D685G	probably benign	Het
Dis3l	C	T	9: 64,238,080 (GRCm39)	S29N	unknown	Het
Dlg5	T	C	14: 24,187,249 (GRCm39)	H1834R	possibly damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dock3	T	A	9: 106,870,743 (GRCm39)	N557I	possibly damaging	Het
Eprs1	A	T	1: 185,105,273 (GRCm39)		probably benign	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fance	T	C	17: 28,534,636 (GRCm39)		probably benign	Het
Farsb	A	T	1: 78,420,402 (GRCm39)	H496Q	possibly damaging	Het
Fryl	C	T	5: 73,248,022 (GRCm39)	E1032K	possibly damaging	Het
Galnt14	A	T	17: 73,814,808 (GRCm39)		probably benign	Het
Gba2	A	T	4: 43,568,619 (GRCm39)		probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gmcl1	G	A	6: 86,709,980 (GRCm39)	T56I	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtpbp2	T	C	17: 46,472,080 (GRCm39)	V5A	probably benign	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hsd3b3	T	C	3: 98,649,532 (GRCm39)	S264G	probably damaging	Het
Ints8	T	C	4: 11,227,152 (GRCm39)	M574V	probably benign	Het
Kif4-ps	G	A	12: 101,115,477 (GRCm39)		noncoding transcript	Het
Klhl14	A	T	18: 21,687,765 (GRCm39)	N552K	probably benign	Het
Klhl40	A	G	9: 121,609,799 (GRCm39)	E528G	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lratd2	A	T	15: 60,695,478 (GRCm39)	D89E	probably benign	Het
Lrrtm2	T	C	18: 35,347,310 (GRCm39)		probably null	Het
Mab21l2	T	A	3: 86,454,811 (GRCm39)	Y63F	probably benign	Het
Mbd1	T	A	18: 74,402,597 (GRCm39)	I33N	possibly damaging	Het
Mertk	G	A	2: 128,643,132 (GRCm39)	V844M	probably benign	Het
Myh11	T	C	16: 14,044,448 (GRCm39)	T652A	possibly damaging	Het
Nlrp4a	C	A	7: 26,148,943 (GRCm39)	Y183*	probably null	Het
Noa1	T	A	5: 77,447,600 (GRCm39)	T558S	probably benign	Het
Nol11	A	T	11: 107,071,826 (GRCm39)	S256T	possibly damaging	Het
Nr1d1	G	T	11: 98,662,086 (GRCm39)	R183S	possibly damaging	Het
Nrg2	G	T	18: 36,185,948 (GRCm39)	Q264K	possibly damaging	Het
Nsd3	T	A	8: 26,188,894 (GRCm39)	F1027I	probably damaging	Het
Ntrk3	T	A	7: 78,110,847 (GRCm39)	I285F	probably damaging	Het
Obox8	T	C	7: 14,066,771 (GRCm39)	N91S	possibly damaging	Het
Oga	T	C	19: 45,760,384 (GRCm39)	E258G	probably benign	Het
Orc5	C	T	5: 22,751,520 (GRCm39)	S63N	probably benign	Het
Osbpl6	C	T	2: 76,398,552 (GRCm39)	T412I	probably benign	Het
P2ry14	C	T	3: 59,022,563 (GRCm39)	C308Y	probably damaging	Het
Pacsin1	T	C	17: 27,926,038 (GRCm39)	F127L	probably damaging	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Pla2g4e	A	T	2: 120,001,669 (GRCm39)	V660E	probably damaging	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Polr3b	A	G	10: 84,550,233 (GRCm39)	Y981C	probably damaging	Het
Popdc2	T	A	16: 38,194,649 (GRCm39)	S357T	probably damaging	Het
Prr29	A	G	11: 106,267,159 (GRCm39)	H58R	probably damaging	Het
Pyy	T	A	11: 101,998,178 (GRCm39)	M1L	possibly damaging	Het
Rasd2	T	C	8: 75,948,556 (GRCm39)	S161P	possibly damaging	Het
Ryr3	C	T	2: 112,826,900 (GRCm39)		probably benign	Het
Sectm1a	G	A	11: 120,960,552 (GRCm39)	R88C	possibly damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Siglecf	A	T	7: 43,005,837 (GRCm39)	I465F	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Spam1	A	T	6: 24,796,661 (GRCm39)	H204L	probably benign	Het
Sspo	A	T	6: 48,450,468 (GRCm39)	N2586Y	possibly damaging	Het
Tbc1d4	A	G	14: 101,700,263 (GRCm39)		probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Tedc2	A	G	17: 24,439,114 (GRCm39)		probably benign	Het
Tgm6	A	G	2: 129,979,314 (GRCm39)	D148G	probably benign	Het
Tgm6	A	T	2: 129,983,128 (GRCm39)	Q239L	probably benign	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmem54	A	T	4: 129,004,704 (GRCm39)	E186D	possibly damaging	Het
Tpk1	A	T	6: 43,588,269 (GRCm39)	F32I	probably benign	Het
Trpc4ap	A	G	2: 155,514,917 (GRCm39)	I97T	probably benign	Het
Tut7	G	A	13: 59,948,413 (GRCm39)	T636I	possibly damaging	Het
Txlnb	A	G	10: 17,718,942 (GRCm39)	E591G	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ubr4	G	A	4: 139,133,829 (GRCm39)	E742K	possibly damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Uevld	T	A	7: 46,587,734 (GRCm39)	D322V	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r238	G	T	18: 3,123,300 (GRCm39)	T38K	probably damaging	Het
Vps8	T	A	16: 21,262,938 (GRCm39)		probably null	Het
Wdr83	T	C	8: 85,806,680 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,183,559 (GRCm39)	T51A	probably benign	Het

Other mutations in Dync2i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Dync2i1	APN	12	116,205,400 (GRCm39)	missense	probably benign	0.01
IGL00668:Dync2i1	APN	12	116,221,048 (GRCm39)	missense	probably benign	0.32
IGL00914:Dync2i1	APN	12	116,196,223 (GRCm39)	missense	probably damaging	1.00
IGL01061:Dync2i1	APN	12	116,193,324 (GRCm39)	missense	probably benign	0.45
IGL01375:Dync2i1	APN	12	116,193,296 (GRCm39)	missense	possibly damaging	0.91
IGL01758:Dync2i1	APN	12	116,182,418 (GRCm39)	missense	possibly damaging	0.82
IGL01930:Dync2i1	APN	12	116,189,583 (GRCm39)	critical splice donor site	probably null
IGL02028:Dync2i1	APN	12	116,219,681 (GRCm39)	missense	probably benign	0.06
IGL03180:Dync2i1	APN	12	116,182,485 (GRCm39)	missense	probably benign	0.07
F5770:Dync2i1	UTSW	12	116,175,460 (GRCm39)	missense	possibly damaging	0.73
R0153:Dync2i1	UTSW	12	116,196,256 (GRCm39)	missense	probably benign	0.01
R0265:Dync2i1	UTSW	12	116,221,026 (GRCm39)	splice site	probably benign
R0364:Dync2i1	UTSW	12	116,221,097 (GRCm39)	splice site	probably benign
R0601:Dync2i1	UTSW	12	116,219,555 (GRCm39)	missense	possibly damaging	0.79
R0624:Dync2i1	UTSW	12	116,211,910 (GRCm39)	missense	probably damaging	0.98
R0755:Dync2i1	UTSW	12	116,175,412 (GRCm39)	missense	probably benign	0.01
R1023:Dync2i1	UTSW	12	116,196,277 (GRCm39)	missense	probably damaging	1.00
R1065:Dync2i1	UTSW	12	116,219,696 (GRCm39)	missense	probably damaging	0.98
R1543:Dync2i1	UTSW	12	116,195,404 (GRCm39)	splice site	probably benign
R1663:Dync2i1	UTSW	12	116,193,230 (GRCm39)	missense	probably benign	0.01
R1678:Dync2i1	UTSW	12	116,189,590 (GRCm39)	missense	probably damaging	1.00
R1719:Dync2i1	UTSW	12	116,219,532 (GRCm39)	missense	probably benign
R1755:Dync2i1	UTSW	12	116,189,649 (GRCm39)	missense	probably damaging	0.98
R1832:Dync2i1	UTSW	12	116,171,363 (GRCm39)	missense	probably damaging	0.99
R1918:Dync2i1	UTSW	12	116,196,221 (GRCm39)	missense	probably damaging	0.96
R2291:Dync2i1	UTSW	12	116,193,191 (GRCm39)	splice site	probably null
R2444:Dync2i1	UTSW	12	116,196,289 (GRCm39)	missense	possibly damaging	0.93
R3419:Dync2i1	UTSW	12	116,188,597 (GRCm39)	missense	probably benign	0.05
R3699:Dync2i1	UTSW	12	116,175,462 (GRCm39)	nonsense	probably null
R3700:Dync2i1	UTSW	12	116,175,462 (GRCm39)	nonsense	probably null
R4445:Dync2i1	UTSW	12	116,171,335 (GRCm39)	missense	probably damaging	1.00
R4954:Dync2i1	UTSW	12	116,219,645 (GRCm39)	missense	probably damaging	1.00
R5057:Dync2i1	UTSW	12	116,177,033 (GRCm39)	missense	probably benign	0.43
R5163:Dync2i1	UTSW	12	116,219,486 (GRCm39)	missense	possibly damaging	0.76
R5341:Dync2i1	UTSW	12	116,219,534 (GRCm39)	missense	possibly damaging	0.51
R5560:Dync2i1	UTSW	12	116,181,733 (GRCm39)	missense	probably damaging	0.98
R5870:Dync2i1	UTSW	12	116,219,865 (GRCm39)	missense	possibly damaging	0.94
R5925:Dync2i1	UTSW	12	116,197,014 (GRCm39)	missense	possibly damaging	0.82
R6223:Dync2i1	UTSW	12	116,221,078 (GRCm39)	missense	possibly damaging	0.95
R6364:Dync2i1	UTSW	12	116,205,352 (GRCm39)	missense	probably damaging	1.00
R6450:Dync2i1	UTSW	12	116,210,347 (GRCm39)	nonsense	probably null
R6462:Dync2i1	UTSW	12	116,193,251 (GRCm39)	missense	probably benign
R6751:Dync2i1	UTSW	12	116,177,076 (GRCm39)	missense	possibly damaging	0.52
R6896:Dync2i1	UTSW	12	116,193,291 (GRCm39)	missense	possibly damaging	0.52
R6962:Dync2i1	UTSW	12	116,175,398 (GRCm39)	missense	probably damaging	1.00
R7033:Dync2i1	UTSW	12	116,175,511 (GRCm39)	missense	probably benign	0.03
R7042:Dync2i1	UTSW	12	116,218,061 (GRCm39)	missense	probably benign	0.02
R7254:Dync2i1	UTSW	12	116,226,205 (GRCm39)	intron	probably benign
R7567:Dync2i1	UTSW	12	116,218,130 (GRCm39)	splice site	probably null
R7889:Dync2i1	UTSW	12	116,219,559 (GRCm39)	nonsense	probably null
R8082:Dync2i1	UTSW	12	116,177,127 (GRCm39)	critical splice acceptor site	probably null
R8288:Dync2i1	UTSW	12	116,177,345 (GRCm39)	missense	probably damaging	1.00
R8309:Dync2i1	UTSW	12	116,219,705 (GRCm39)	missense	probably damaging	1.00
R8682:Dync2i1	UTSW	12	116,188,610 (GRCm39)	missense	probably damaging	1.00
R8683:Dync2i1	UTSW	12	116,193,262 (GRCm39)	missense	probably benign	0.03
R8699:Dync2i1	UTSW	12	116,171,321 (GRCm39)	missense	probably benign	0.01
R8782:Dync2i1	UTSW	12	116,205,332 (GRCm39)	missense	probably damaging	1.00
R8809:Dync2i1	UTSW	12	116,193,234 (GRCm39)	missense	probably damaging	0.98
R9281:Dync2i1	UTSW	12	116,211,677 (GRCm39)	nonsense	probably null
R9530:Dync2i1	UTSW	12	116,175,411 (GRCm39)	missense	possibly damaging	0.87
R9751:Dync2i1	UTSW	12	116,205,403 (GRCm39)	critical splice acceptor site	probably null
V7581:Dync2i1	UTSW	12	116,175,460 (GRCm39)	missense	possibly damaging	0.73
V7582:Dync2i1	UTSW	12	116,175,460 (GRCm39)	missense	possibly damaging	0.73
V7583:Dync2i1	UTSW	12	116,175,460 (GRCm39)	missense	possibly damaging	0.73
X0063:Dync2i1	UTSW	12	116,219,489 (GRCm39)	missense	probably benign
Z1177:Dync2i1	UTSW	12	116,209,719 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGACTATGAGCCTTCTCTGC -3'
(R):5'- ATCTTGCTGGACTGAGAGGG -3'

Sequencing Primer
(F):5'- GACTATGAGCCTTCTCTGCTTCTTG -3'
(R):5'- ACTGAGAGGGCCGTTGCAG -3'

Posted On

2015-10-08