Mutagenetix > Incidental Mutation

Incidental Mutation 'R7627:Dync1li2'

589498

Institutional Source

Beutler Lab

Gene Symbol

Dync1li2

Ensembl Gene

ENSMUSG00000035770

Gene Name

dynein, cytoplasmic 1 light intermediate chain 2

Synonyms

Dnclic2, Dncli2, Dlic2, LIC2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R7627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105144312-105169679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105156140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 234 (C234R)

Ref Sequence

ENSEMBL: ENSMUSP00000045480 (fasta)

Gene Model

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

AlphaFold

Q6PDL0

Predicted Effect

probably benign
Transcript: ENSMUST00000041769
AA Change: C234R

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045480
Gene: ENSMUSG00000035770
AA Change: C234R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212654
AA Change: C234R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	A	14: 34,234,055 (GRCm39)	I79L	unknown	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Acvrl1	G	A	15: 101,033,747 (GRCm39)	R143Q	probably benign	Het
Adam22	A	G	5: 8,417,933 (GRCm39)	S8P	probably benign	Het
Ankrd11	A	G	8: 123,617,690 (GRCm39)	I2054T	possibly damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Cad	T	A	5: 31,217,508 (GRCm39)	L354Q	probably damaging	Het
Ccdc15	A	T	9: 37,253,698 (GRCm39)	C184S	unknown	Het
Ccl8	A	G	11: 82,006,865 (GRCm39)	D26G	probably benign	Het
Ccsap	T	C	8: 124,569,097 (GRCm39)	Y248C	probably damaging	Het
Col5a1	T	G	2: 27,840,665 (GRCm39)	Y271*	probably null	Het
Dnmt3b	A	G	2: 153,519,500 (GRCm39)	N695S	probably benign	Het
Dync2h1	A	T	9: 7,101,111 (GRCm39)	D2758E	probably benign	Het
Eif2ak3	A	T	6: 70,869,919 (GRCm39)	T869S	probably benign	Het
Foxn4	G	T	5: 114,398,495 (GRCm39)	P175H	possibly damaging	Het
Gbp5	T	G	3: 142,206,319 (GRCm39)	M1R	probably null	Het
Glp2r	G	T	11: 67,637,589 (GRCm39)	L30I	unknown	Het
Gls	A	T	1: 52,205,425 (GRCm39)	D639E	probably benign	Het
Gm5145	G	T	17: 20,790,654 (GRCm39)	E11*	probably null	Het
Gm9772	T	A	17: 22,226,160 (GRCm39)	K41N	probably damaging	Het
Gnat3	A	T	5: 18,204,746 (GRCm39)	D133V		Het
Gse1	C	A	8: 121,299,516 (GRCm39)	P849T	unknown	Het
H2ac15	C	A	13: 21,937,916 (GRCm39)	V28L	probably benign	Het
Hoxb9	A	G	11: 96,165,521 (GRCm39)	T197A	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Leng9	A	G	7: 4,151,617 (GRCm39)	L353P	probably damaging	Het
Mamdc2	A	T	19: 23,288,355 (GRCm39)	M561K	probably damaging	Het
Mamdc4	A	G	2: 25,458,225 (GRCm39)	V395A	probably damaging	Het
Mrpl32	G	A	13: 14,787,498 (GRCm39)	R36C	probably benign	Het
Or6b2b	A	T	1: 92,419,107 (GRCm39)	Y123*	probably null	Het
Or7e168	A	G	9: 19,719,947 (GRCm39)	D111G	probably damaging	Het
Papss1	T	A	3: 131,290,873 (GRCm39)	D205E	probably benign	Het
Pdlim2	T	C	14: 70,408,924 (GRCm39)	D151G	probably benign	Het
Pdxp	T	C	15: 78,798,339 (GRCm39)	V57A	probably damaging	Het
Plec	T	A	15: 76,061,594 (GRCm39)	E2781V	probably damaging	Het
Prr7	GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC	GCGCCGCCGCAC	13: 55,620,147 (GRCm39)		probably benign	Het
Rnf32	G	A	5: 29,402,948 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,776,213 (GRCm39)	V1108A	possibly damaging	Het
Slc4a8	A	G	15: 100,686,104 (GRCm39)	H276R	probably benign	Het
Slco1a7	C	T	6: 141,690,271 (GRCm39)	V161I	probably damaging	Het
Spta1	T	A	1: 174,032,944 (GRCm39)	D1000E	probably damaging	Het
Sva	C	A	6: 42,019,598 (GRCm39)	Q153K	unknown	Het
Tmprss11d	T	C	5: 86,457,365 (GRCm39)	Y236C	possibly damaging	Het
Zfp160	T	C	17: 21,247,270 (GRCm39)	S607P	probably damaging	Het
Zfp82	C	A	7: 29,756,147 (GRCm39)	G312W	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACTCTGCTCAGGAGGGGCT -3'
(R):5'- GTGTATAAACTGAGGCCCGGATG -3'

Sequencing Primer
(F):5'- TCAGGAGGGGCTGTGCAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2019-10-24