Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:Dync2i1'

22858

Institutional Source

Beutler Lab

Gene Symbol

Dync2i1

Ensembl Gene

ENSMUSG00000042050

Gene Name

dynein 2 intermediate chain 1

Synonyms

Dync2l1, D430033N04Rik, Wdr60

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

116169882-116226642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116196256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 497 (V497A)

Ref Sequence

ENSEMBL: ENSMUSP00000047334 (fasta)

Gene Model

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

AlphaFold

Q8C761

Predicted Effect

probably benign
Transcript: ENSMUST00000039349
AA Change: V497A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: V497A

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: ENSMUST00000222764

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
BC024139	T	C	15: 76,005,947 (GRCm39)	E418G	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	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
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

Predicted Primers

PCR Primer
(F):5'- GGATCAGACTAGGGTTCAGGCCAAT -3'
(R):5'- TCTAACATAGCCTCTTGGGGCATGA -3'

Sequencing Primer
(F):5'- GACTAGGGTTCAGGCCAATTTAATG -3'
(R):5'- acatccgcagtcagaagag -3'

Posted On

2013-04-16