Mutagenetix > Incidental Mutation

Incidental Mutation 'R7331:Dync2li1'

569263

Institutional Source

Beutler Lab

Gene Symbol

Dync2li1

Ensembl Gene

ENSMUSG00000024253

Gene Name

dynein cytoplasmic 2 light intermediate chain 1

Synonyms

4933404O11Rik, mD2LIC, LIC3, CGI-60, D2lic

MMRRC Submission

045424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84933924-84963016 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 84955086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 248 (C248*)

Ref Sequence

ENSEMBL: ENSMUSP00000025101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025101]

AlphaFold

Q8K0T2

Predicted Effect

probably null
Transcript: ENSMUST00000025101
AA Change: C248*

SMART Domains

Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253
AA Change: C248*

Domain	Start	End	E-Value	Type
Pfam:DLIC	2	179	3.3e-8	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for disruptions in this allele die before embryonic day 11.5. They display neural tube defects in addition to a variety developmental patterning abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,728 (GRCm39)	H47L	possibly damaging	Het
Adgrf5	T	C	17: 43,748,484 (GRCm39)	S438P	probably damaging	Het
Atg16l2	C	A	7: 100,948,255 (GRCm39)	K96N	probably damaging	Het
Bglap2	A	T	3: 88,285,567 (GRCm39)	M35K	possibly damaging	Het
Btbd1	T	A	7: 81,465,720 (GRCm39)	I209L	probably damaging	Het
Cdc34	T	C	10: 79,521,146 (GRCm39)	Y148H	probably damaging	Het
Clcc1	A	G	3: 108,575,394 (GRCm39)	D157G	probably damaging	Het
Csmd2	A	T	4: 128,458,021 (GRCm39)		probably null	Het
Ctsj	G	A	13: 61,151,645 (GRCm39)	S90L	probably benign	Het
Cycs	A	G	6: 50,542,532 (GRCm39)	F37L	probably benign	Het
Dzank1	A	T	2: 144,332,190 (GRCm39)	I382N	probably benign	Het
Eif4a3l2	G	A	6: 116,529,130 (GRCm39)	V336I	probably benign	Het
Enpp2	T	C	15: 54,739,066 (GRCm39)	I406V	probably damaging	Het
Ero1b	A	G	13: 12,615,015 (GRCm39)	E282G	probably damaging	Het
Fastkd5	A	T	2: 130,457,647 (GRCm39)	N314K	possibly damaging	Het
Fbh1	A	T	2: 11,768,797 (GRCm39)	C300S	probably benign	Het
Fchsd1	T	C	18: 38,101,823 (GRCm39)	I49V	possibly damaging	Het
Foxn1	A	G	11: 78,249,615 (GRCm39)	Y637H	probably damaging	Het
Gabarap	A	G	11: 69,885,298 (GRCm39)	E101G	possibly damaging	Het
Gm7247	A	G	14: 51,601,792 (GRCm39)	R22G	probably damaging	Het
Gm7694	A	T	1: 170,129,180 (GRCm39)	D116E	possibly damaging	Het
Gm9508	A	G	10: 77,532,629 (GRCm39)	C147R	unknown	Het
Gpr152	A	G	19: 4,192,608 (GRCm39)	M50V	probably damaging	Het
Hunk	T	A	16: 90,269,450 (GRCm39)	N331K	possibly damaging	Het
Il1r2	A	G	1: 40,162,409 (GRCm39)	T351A	probably benign	Het
Iqub	A	G	6: 24,500,393 (GRCm39)	V287A	possibly damaging	Het
Lix1	A	T	17: 17,647,474 (GRCm39)	T47S	probably benign	Het
Lrp1b	A	T	2: 40,553,622 (GRCm39)		probably null	Het
Nup107	G	A	10: 117,606,103 (GRCm39)	T500I	probably damaging	Het
Phf21b	G	C	15: 84,675,295 (GRCm39)	R405G	probably benign	Het
Piezo2	A	G	18: 63,241,101 (GRCm39)	V709A	probably damaging	Het
Psme3ip1	T	A	8: 95,309,564 (GRCm39)	K143*	probably null	Het
Rfc1	T	C	5: 65,468,387 (GRCm39)	T109A	probably damaging	Het
Rpa1	A	G	11: 75,203,941 (GRCm39)	V302A	probably damaging	Het
Ryr2	A	G	13: 11,760,517 (GRCm39)	I1522T	probably benign	Het
Ryr3	C	A	2: 112,594,010 (GRCm39)	R2578L	possibly damaging	Het
Scgb2b18	C	T	7: 32,872,681 (GRCm39)	W41*	probably null	Het
Sdccag8	C	G	1: 176,695,856 (GRCm39)	Q387E	possibly damaging	Het
Slc25a17	G	A	15: 81,213,346 (GRCm39)	T119M	probably damaging	Het
Slc45a4	G	T	15: 73,477,489 (GRCm39)	Q16K	probably benign	Het
Slc4a1	G	A	11: 102,252,245 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,311,880 (GRCm39)	T47A	probably benign	Het
Stard6	A	G	18: 70,616,553 (GRCm39)	R71G	probably damaging	Het
Tecr	A	G	8: 84,298,564 (GRCm39)	V321A	probably damaging	Het
Ttc3	T	A	16: 94,195,218 (GRCm39)	F290L	probably benign	Het
Uqcc1	A	G	2: 155,753,731 (GRCm39)	V48A	probably benign	Het
V1rd19	T	A	7: 23,703,308 (GRCm39)	I258N	probably damaging	Het
Zar1	T	A	5: 72,737,655 (GRCm39)	E249V	possibly damaging	Het
Zfp101	T	C	17: 33,601,559 (GRCm39)	T66A	possibly damaging	Het
Zyx	A	G	6: 42,328,593 (GRCm39)	H230R	probably benign	Het

Other mutations in Dync2li1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Dync2li1	APN	17	84,952,154 (GRCm39)	missense	possibly damaging	0.86
IGL00661:Dync2li1	APN	17	84,956,668 (GRCm39)	missense	possibly damaging	0.88
IGL01450:Dync2li1	APN	17	84,940,984 (GRCm39)	missense	possibly damaging	0.53
IGL01610:Dync2li1	APN	17	84,935,742 (GRCm39)	missense	probably damaging	1.00
R0387:Dync2li1	UTSW	17	84,962,768 (GRCm39)	missense	possibly damaging	0.69
R0883:Dync2li1	UTSW	17	84,956,699 (GRCm39)	missense	probably benign	0.01
R1499:Dync2li1	UTSW	17	84,954,667 (GRCm39)	splice site	probably benign
R1823:Dync2li1	UTSW	17	84,957,225 (GRCm39)	missense	probably damaging	0.98
R2164:Dync2li1	UTSW	17	84,943,702 (GRCm39)	missense	probably damaging	1.00
R2394:Dync2li1	UTSW	17	84,952,175 (GRCm39)	missense	possibly damaging	0.94
R2443:Dync2li1	UTSW	17	84,955,093 (GRCm39)	missense	probably benign	0.30
R3901:Dync2li1	UTSW	17	84,939,070 (GRCm39)	missense	probably damaging	1.00
R4151:Dync2li1	UTSW	17	84,935,763 (GRCm39)	missense	probably benign	0.00
R4934:Dync2li1	UTSW	17	84,956,683 (GRCm39)	missense	probably benign
R4960:Dync2li1	UTSW	17	84,940,969 (GRCm39)	missense	probably benign	0.07
R5340:Dync2li1	UTSW	17	84,957,130 (GRCm39)	splice site	probably null
R5841:Dync2li1	UTSW	17	84,940,990 (GRCm39)	missense	probably damaging	1.00
R6230:Dync2li1	UTSW	17	84,955,078 (GRCm39)	missense	probably damaging	0.97
R7447:Dync2li1	UTSW	17	84,955,141 (GRCm39)	missense	possibly damaging	0.77
R8492:Dync2li1	UTSW	17	84,957,134 (GRCm39)	splice site	probably null
R8827:Dync2li1	UTSW	17	84,955,079 (GRCm39)	missense	possibly damaging	0.83
R9228:Dync2li1	UTSW	17	84,957,137 (GRCm39)	missense	probably benign	0.00
R9231:Dync2li1	UTSW	17	84,935,819 (GRCm39)	missense	probably null	0.19

Predicted Primers

PCR Primer
(F):5'- GCTGACTATGGTGTTAGTCTGTCAC -3'
(R):5'- TACGTCAATGTGCTGGGAGC -3'

Sequencing Primer
(F):5'- GTCTGTCACAACCAATGGTACTGG -3'
(R):5'- CAATGTGCTGGGAGCTTCCTC -3'

Posted On

2019-09-13