Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Dync2i1'

30244

Institutional Source

Beutler Lab

Gene Symbol

Dync2i1

Ensembl Gene

ENSMUSG00000042050

Gene Name

dynein 2 intermediate chain 1

Synonyms

Dync2l1, D430033N04Rik, Wdr60

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116169882-116226642 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 116221097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152429 (fasta)

Gene Model

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

AlphaFold

Q8C761

Predicted Effect

probably benign
Transcript: ENSMUST00000039349

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itga9	A	G	9: 118,670,210 (GRCm39)	T177A	probably benign	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	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
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
R4664:Dync2i1	UTSW	12	116,219,831 (GRCm39)	missense	probably damaging	0.99
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'- TCAGTTCCCGTGCAGGACTGTACCC -3'
(R):5'- GGTCACAGAATGCTTGCCCTTGCTC -3'

Sequencing Primer
(F):5'- TTTCCAGAAGTAGTAACTACCTACC -3'
(R):5'- tgccttcaaactctgtattctcc -3'

Posted On

2013-04-24