Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Dync1li2'

16947

Institutional Source

Beutler Lab

Gene Symbol

Dync1li2

Ensembl Gene

ENSMUSG00000035770

Gene Name

dynein, cytoplasmic 1 light intermediate chain 2

Synonyms

Dnclic2, Dncli2, Dlic2, LIC2

MMRRC Submission

038388-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105144312-105169679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105154757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 284 (Y284N)

Ref Sequence

ENSEMBL: ENSMUSP00000148681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041769] [ENSMUST00000212654]

AlphaFold

Q6PDL0

Predicted Effect

probably benign
Transcript: ENSMUST00000041769
AA Change: Y284N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: Y284N

Domain	Start	End	E-Value	Type
Pfam:DLIC	30	491	5.8e-264	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212040

Predicted Effect

unknown
Transcript: ENSMUST00000212230
AA Change: Y211N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212343

Predicted Effect

probably benign
Transcript: ENSMUST00000212654
AA Change: Y284N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.2123

Coding Region Coverage

1x: 88.8%
3x: 85.2%
10x: 73.9%
20x: 53.9%

Validation Efficiency

97% (84/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,874 (GRCm39)	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,386,762 (GRCm39)	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,265,795 (GRCm39)	R292*	probably null	Het
Abcb4	T	C	5: 8,959,194 (GRCm39)	F207S	probably damaging	Het
Adcy4	A	C	14: 56,008,990 (GRCm39)	N812K	probably benign	Het
Afap1l2	G	T	19: 56,916,872 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,687,385 (GRCm39)	H203L	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bod1l	G	A	5: 41,974,612 (GRCm39)	P2234L	probably benign	Het
Cfi	A	C	3: 129,642,416 (GRCm39)	H90P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,794 (GRCm39)	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,897 (GRCm39)		probably benign	Het
Dnttip2	G	T	3: 122,069,452 (GRCm39)	M222I	probably benign	Het
Ebf1	T	C	11: 44,882,282 (GRCm39)	Y413H	probably benign	Het
Exog	A	G	9: 119,281,319 (GRCm39)	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,334,939 (GRCm39)	N66S	possibly damaging	Het
Gprc5a	A	T	6: 135,056,033 (GRCm39)	N160I	probably damaging	Het
Haus3	A	G	5: 34,323,258 (GRCm39)		probably null	Het
Klhl20	A	T	1: 160,918,015 (GRCm39)	C90*	probably null	Het
Krt84	T	A	15: 101,437,138 (GRCm39)	I342L	probably damaging	Het
Lifr	G	A	15: 7,208,373 (GRCm39)	D584N	probably damaging	Het
Lmbrd2	G	A	15: 9,184,039 (GRCm39)	R551K	probably damaging	Het
Lrtm1	T	A	14: 28,744,184 (GRCm39)		probably benign	Het
Mat1a	T	A	14: 40,842,187 (GRCm39)		probably benign	Het
Mest	A	G	6: 30,746,269 (GRCm39)	I279V	probably damaging	Het
Mroh5	A	T	15: 73,691,199 (GRCm39)	D155E	probably benign	Het
Naa25	A	G	5: 121,573,632 (GRCm39)	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,162,534 (GRCm39)	P465S	probably damaging	Het
Necab3	G	A	2: 154,387,232 (GRCm39)	R302C	probably damaging	Het
Nsg1	A	T	5: 38,316,254 (GRCm39)	D32E	probably damaging	Het
Ntrk2	T	C	13: 58,956,607 (GRCm39)	V22A	probably benign	Het
Nuggc	A	G	14: 65,851,000 (GRCm39)	D290G	probably null	Het
Nup205	A	T	6: 35,202,715 (GRCm39)		probably benign	Het
Or2t35	C	T	14: 14,407,876 (GRCm38)	S218F	probably damaging	Het
Or4f57	G	C	2: 111,790,942 (GRCm39)	Q159E	probably damaging	Het
Pde4b	T	A	4: 102,447,375 (GRCm39)	S9T	probably benign	Het
Phip	A	T	9: 82,787,845 (GRCm39)		probably null	Het
Pitpnm3	C	T	11: 71,947,072 (GRCm39)	V776M	probably damaging	Het
Pon2	A	G	6: 5,289,091 (GRCm39)		probably benign	Het
Ppp1r12b	T	A	1: 134,763,637 (GRCm39)		probably null	Het
Ppp1r15b	A	G	1: 133,060,908 (GRCm39)	N475S	probably damaging	Het
Prorp	A	G	12: 55,429,082 (GRCm39)	D535G	probably benign	Het
Prrt3	A	T	6: 113,474,790 (GRCm39)	L144H	probably damaging	Het
Psmb7	A	G	2: 38,533,377 (GRCm39)	V50A	possibly damaging	Het
Sacs	T	A	14: 61,442,017 (GRCm39)	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,425,884 (GRCm39)	T29A	probably benign	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,794,452 (GRCm39)	I447T	probably damaging	Het
Spata31h1	T	A	10: 82,119,390 (GRCm39)	K4540M	probably damaging	Het
Spata31h2	T	A	5: 23,542,489 (GRCm39)		noncoding transcript	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trappc12	A	T	12: 28,796,751 (GRCm39)	F260L	probably damaging	Het
Trgv4	T	G	13: 19,369,370 (GRCm39)	F38C	possibly damaging	Het
Trim10	C	A	17: 37,181,074 (GRCm39)	H102N	probably damaging	Het
Ube2u	A	G	4: 100,407,122 (GRCm39)	T215A	possibly damaging	Het
Vcan	T	G	13: 89,851,787 (GRCm39)	T1058P	probably benign	Het
Vwa3b	A	C	1: 37,174,595 (GRCm39)	E670A	probably damaging	Het

Other mutations in Dync1li2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Dync1li2	APN	8	105,169,130 (GRCm39)	missense	possibly damaging	0.95
IGL01143:Dync1li2	APN	8	105,156,085 (GRCm39)	missense	probably damaging	0.96
E0354:Dync1li2	UTSW	8	105,152,099 (GRCm39)	missense	probably damaging	0.99
R0102:Dync1li2	UTSW	8	105,154,757 (GRCm39)	missense	probably benign	0.00
R0555:Dync1li2	UTSW	8	105,147,297 (GRCm39)	missense	probably benign
R0784:Dync1li2	UTSW	8	105,169,130 (GRCm39)	missense	probably damaging	0.99
R1532:Dync1li2	UTSW	8	105,152,667 (GRCm39)	missense	probably damaging	1.00
R1632:Dync1li2	UTSW	8	105,164,123 (GRCm39)	missense	probably damaging	0.99
R2877:Dync1li2	UTSW	8	105,156,047 (GRCm39)	missense	probably damaging	1.00
R2878:Dync1li2	UTSW	8	105,156,047 (GRCm39)	missense	probably damaging	1.00
R4272:Dync1li2	UTSW	8	105,149,775 (GRCm39)	missense	probably damaging	0.96
R4380:Dync1li2	UTSW	8	105,154,798 (GRCm39)	missense	probably damaging	1.00
R5050:Dync1li2	UTSW	8	105,164,073 (GRCm39)	missense	probably damaging	1.00
R5218:Dync1li2	UTSW	8	105,169,179 (GRCm39)	nonsense	probably null
R5501:Dync1li2	UTSW	8	105,167,104 (GRCm39)	critical splice donor site	probably null
R5628:Dync1li2	UTSW	8	105,147,224 (GRCm39)	missense	possibly damaging	0.95
R6542:Dync1li2	UTSW	8	105,169,396 (GRCm39)	missense	probably benign	0.09
R6727:Dync1li2	UTSW	8	105,167,167 (GRCm39)	missense	probably damaging	0.98
R7384:Dync1li2	UTSW	8	105,169,175 (GRCm39)	missense	probably benign	0.06
R7627:Dync1li2	UTSW	8	105,156,140 (GRCm39)	missense	probably benign	0.30
R7796:Dync1li2	UTSW	8	105,157,181 (GRCm39)	missense	probably damaging	1.00
R8914:Dync1li2	UTSW	8	105,152,090 (GRCm39)	missense	probably benign	0.01
R9178:Dync1li2	UTSW	8	105,150,255 (GRCm39)	missense	possibly damaging	0.76
R9468:Dync1li2	UTSW	8	105,147,258 (GRCm39)	missense	probably benign	0.25
R9594:Dync1li2	UTSW	8	105,154,752 (GRCm39)	missense	possibly damaging	0.93

Posted On

2013-01-20