Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01758:Dync2i1'

153467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dync2i1

Ensembl Gene

ENSMUSG00000042050

Gene Name

dynein 2 intermediate chain 1

Synonyms

Dync2l1, D430033N04Rik, Wdr60

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01758

Quality Score

Status

Chromosome

Chromosomal Location

116169882-116226642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116182418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 728 (P728L)

Ref Sequence

ENSEMBL: ENSMUSP00000047334 (fasta)

Gene Model

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

AlphaFold

Q8C761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039349
AA Change: P728L

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: P728L

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: ENSMUST00000221748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222764

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,645 (GRCm39)	D860G	possibly damaging	Het
Acot7	T	C	4: 152,302,250 (GRCm39)	C121R	probably damaging	Het
Adam19	A	T	11: 46,003,751 (GRCm39)	H193L	probably benign	Het
AI661453	T	A	17: 47,777,548 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,983,953 (GRCm39)		probably benign	Het
Brd4	T	C	17: 32,431,803 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,586,048 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,269 (GRCm39)	Q713R	probably benign	Het
Cfap52	A	T	11: 67,844,406 (GRCm39)	L103Q	possibly damaging	Het
Dpy19l4	T	A	4: 11,265,846 (GRCm39)	T475S	probably damaging	Het
Fat2	A	T	11: 55,187,035 (GRCm39)	D1270E	probably damaging	Het
Hfm1	T	C	5: 107,052,659 (GRCm39)	K275E	probably damaging	Het
Ift172	T	C	5: 31,438,058 (GRCm39)	D426G	probably benign	Het
Mrc1	T	C	2: 14,243,059 (GRCm39)	S62P	probably damaging	Het
Or13f5	G	T	4: 52,825,468 (GRCm39)	E24*	probably null	Het
Or8b50	T	A	9: 38,518,589 (GRCm39)	I276K	probably damaging	Het
Ptgs2	A	T	1: 149,977,740 (GRCm39)		probably null	Het
Rxfp1	T	A	3: 79,559,523 (GRCm39)	I433F	possibly damaging	Het
Sbf1	C	T	15: 89,187,418 (GRCm39)		probably benign	Het
Serpinb13	T	G	1: 106,928,484 (GRCm39)	F368C	probably damaging	Het
Slc9c1	T	A	16: 45,361,824 (GRCm39)	S80R	probably damaging	Het
Spats2l	G	T	1: 57,918,715 (GRCm39)	V30L	probably damaging	Het
Stat1	A	G	1: 52,176,080 (GRCm39)	E195G	probably damaging	Het
Tbx5	T	A	5: 119,983,023 (GRCm39)		probably benign	Het
Tmem165	A	G	5: 76,352,010 (GRCm39)	T164A	probably damaging	Het
Trim66	A	T	7: 109,085,252 (GRCm39)		probably null	Het
Trip10	T	A	17: 57,568,409 (GRCm39)	V405E	possibly damaging	Het
Vmn2r92	T	A	17: 18,372,275 (GRCm39)	C28*	probably null	Het
Zbtb8a	C	T	4: 129,251,640 (GRCm39)	C277Y	probably damaging	Het
Zfp638	T	C	6: 83,956,508 (GRCm39)	F1705S	probably damaging	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
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
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

Posted On

2014-02-04