Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00586:Dync2i1'

14843

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 #

IGL00586

Quality Score

Status

Chromosome

Chromosomal Location

116169882-116226642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116205400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 396 (D396E)

Ref Sequence

ENSEMBL: ENSMUSP00000047334 (fasta)

Gene Model

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

AlphaFold

Q8C761

Predicted Effect

probably benign
Transcript: ENSMUST00000039349
AA Change: D396E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: D396E

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: ENSMUST00000180307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223039

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,074,746 (GRCm39)	S76P	probably benign	Het
Asap3	A	C	4: 135,933,879 (GRCm39)	D17A	probably damaging	Het
Ccdc24	C	T	4: 117,729,243 (GRCm39)	R78H	probably damaging	Het
Crp	T	C	1: 172,526,568 (GRCm39)	F218L	probably benign	Het
Dab2	T	C	15: 6,459,306 (GRCm39)	L385P	probably benign	Het
Dip2c	C	A	13: 9,660,791 (GRCm39)	T855N	probably damaging	Het
Dnai7	A	T	6: 145,137,302 (GRCm39)	F269I	possibly damaging	Het
Ep400	A	G	5: 110,887,460 (GRCm39)	V541A	probably damaging	Het
Gbgt1	A	T	2: 28,392,207 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,195,845 (GRCm39)	D297E	possibly damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Itgb6	T	G	2: 60,450,696 (GRCm39)	D581A	probably benign	Het
Lce1a1	C	T	3: 92,554,470 (GRCm39)	M1I	probably null	Het
Lmbrd2	G	A	15: 9,157,382 (GRCm39)	V207M	probably damaging	Het
Muc5b	T	A	7: 141,395,129 (GRCm39)	V45E	unknown	Het
Mybpc2	A	G	7: 44,154,806 (GRCm39)	V977A	probably damaging	Het
Oas1c	T	C	5: 120,946,744 (GRCm39)	T29A	probably benign	Het
Pdzd2	G	T	15: 12,365,853 (GRCm39)		probably null	Het
Plk2	T	C	13: 110,532,912 (GRCm39)	Y158H	possibly damaging	Het
Prss1l	T	C	6: 41,373,049 (GRCm39)	I107T	probably damaging	Het
Ptprq	A	G	10: 107,443,983 (GRCm39)		probably benign	Het
Rnf17	C	T	14: 56,658,539 (GRCm39)	T76I	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Sidt2	A	G	9: 45,854,350 (GRCm39)	V624A	possibly damaging	Het
Sin3b	T	C	8: 73,483,628 (GRCm39)	V1005A	probably benign	Het
Ubr4	T	C	4: 139,182,495 (GRCm39)	V358A	possibly damaging	Het
Zfp120	T	C	2: 149,961,748 (GRCm39)	I67V	possibly damaging	Het
Zfp942	A	T	17: 22,147,605 (GRCm39)	H341Q	probably damaging	Het

Other mutations in Dync2i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06