Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Dync2li1'

31383

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

038593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84933924-84963016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84962768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 345 (K345E)

Ref Sequence

ENSEMBL: ENSMUSP00000025101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025101] [ENSMUST00000066175] [ENSMUST00000163375]

AlphaFold

Q8K0T2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025101
AA Change: K345E

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253
AA Change: K345E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066175

SMART Domains

Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505

Domain	Start	End	E-Value	Type
AAA	79	271	2.28e-11	SMART
Pfam:ABC2_membrane	367	581	1.3e-24	PFAM
transmembrane domain	621	643	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163375

SMART Domains

Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	1	134	7.8e-17	PFAM
Pfam:ABC2_membrane	195	409	1.4e-23	PFAM
transmembrane domain	449	471	N/A	INTRINSIC

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	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
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
R7331:Dync2li1	UTSW	17	84,955,086 (GRCm39)	nonsense	probably null
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'- TTAGTAGAGTCACAGAGCCGGTCTC -3'
(R):5'- TCTGAGTACACCTTCCAGAAGGACG -3'

Sequencing Primer
(F):5'- CAGAGCCGGTCTCAGGAAG -3'
(R):5'- cagaatccaaatggtacaaggag -3'

Posted On

2013-04-24