Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:Dync1i2'

439765

Institutional Source

Beutler Lab

Gene Symbol

Dync1i2

Ensembl Gene

ENSMUSG00000027012

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Synonyms

3110079H08Rik, Dncic2

MMRRC Submission

043160-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71042050-71093647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71088483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 505 (M505K)

Ref Sequence

ENSEMBL: ENSMUSP00000107767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081710] [ENSMUST00000100028] [ENSMUST00000112136] [ENSMUST00000112138] [ENSMUST00000112139] [ENSMUST00000112140] [ENSMUST00000112142] [ENSMUST00000112144]

AlphaFold

O88487

Predicted Effect

probably benign
Transcript: ENSMUST00000081710
AA Change: M505K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: M505K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	1.1e-20	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	593	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100028
AA Change: M525K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: M525K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	126	158	2.8e-21	PFAM
low complexity region	175	189	N/A	INTRINSIC
Blast:WD40	263	311	4e-26	BLAST
WD40	316	355	5.55e-1	SMART
WD40	362	405	7.16e-1	SMART
WD40	459	504	7.39e-3	SMART
WD40	507	547	7.28e-2	SMART
WD40	552	592	8.91e-1	SMART
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112136
AA Change: M531K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: M531K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	132	164	2.6e-21	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	5e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	618	632	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112138
AA Change: M505K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: M505K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	1.1e-20	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	593	607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112139
AA Change: M505K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: M505K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	106	138	4.5e-21	PFAM
low complexity region	155	169	N/A	INTRINSIC
Blast:WD40	243	291	3e-26	BLAST
WD40	296	335	5.55e-1	SMART
WD40	342	385	7.16e-1	SMART
WD40	439	484	7.39e-3	SMART
WD40	487	527	7.28e-2	SMART
WD40	532	572	8.91e-1	SMART
low complexity region	592	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112140
AA Change: M531K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: M531K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	132	164	2.6e-21	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	4e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	619	633	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112142
AA Change: M525K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: M525K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	73	91	N/A	INTRINSIC
Pfam:Dynein_IC2	126	158	2.8e-21	PFAM
low complexity region	175	189	N/A	INTRINSIC
Blast:WD40	263	311	4e-26	BLAST
WD40	316	355	5.55e-1	SMART
WD40	362	405	7.16e-1	SMART
WD40	459	504	7.39e-3	SMART
WD40	507	547	7.28e-2	SMART
WD40	552	592	8.91e-1	SMART
low complexity region	613	627	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137683

Predicted Effect

probably benign
Transcript: ENSMUST00000112144
AA Change: M531K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: M531K

Domain	Start	End	E-Value	Type
coiled coil region	1	67	N/A	INTRINSIC
low complexity region	83	97	N/A	INTRINSIC
Pfam:Dynein_IC2	133	163	6.5e-19	PFAM
low complexity region	181	195	N/A	INTRINSIC
Blast:WD40	269	317	4e-26	BLAST
WD40	322	361	5.55e-1	SMART
WD40	368	411	7.16e-1	SMART
WD40	465	510	7.39e-3	SMART
WD40	513	553	7.28e-2	SMART
WD40	558	598	8.91e-1	SMART
low complexity region	619	633	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138613

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit a trend towards slight locomotor deficit. [provided by MGI curators]

Allele List at MGI

All alleles(50) : Targeted, other(2) Gene trapped(48)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,246,826 (GRCm39)	S511A	probably benign	Het
Abca3	C	T	17: 24,615,444 (GRCm39)	T845I	probably benign	Het
Acaa2	G	A	18: 74,938,945 (GRCm39)	A377T	possibly damaging	Het
Adcy4	C	A	14: 56,009,824 (GRCm39)	E743*	probably null	Het
Ahnak	T	A	19: 8,990,458 (GRCm39)	L3914*	probably null	Het
Akap1	G	T	11: 88,736,343 (GRCm39)	N106K	possibly damaging	Het
Arid2	C	T	15: 96,270,387 (GRCm39)	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,783,909 (GRCm39)	Y252*	probably null	Het
C4bp	A	G	1: 130,581,090 (GRCm39)	S140P	probably damaging	Het
Cald1	A	G	6: 34,739,047 (GRCm39)	I384M	probably damaging	Het
Cdk12	A	G	11: 98,101,809 (GRCm39)	I556V	unknown	Het
Chmp2a	T	C	7: 12,766,237 (GRCm39)	S174G	probably benign	Het
Clybl	T	A	14: 122,548,755 (GRCm39)	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,108,088 (GRCm39)	S303R	probably benign	Het
Dab2	T	A	15: 6,447,796 (GRCm39)	D59E	probably damaging	Het
Dag1	C	A	9: 108,086,214 (GRCm39)	R309L	probably damaging	Het
Eif2b1	A	T	5: 124,717,075 (GRCm39)	M1K	probably null	Het
Epc1	A	G	18: 6,448,917 (GRCm39)	S577P	probably benign	Het
Eps8l1	T	A	7: 4,463,945 (GRCm39)	I23N	possibly damaging	Het
Etl4	A	G	2: 20,535,037 (GRCm39)	E164G	probably damaging	Het
Firrm	C	A	1: 163,789,613 (GRCm39)	G641*	probably null	Het
Gadl1	A	T	9: 115,766,230 (GRCm39)	M1L	probably benign	Het
Gda	T	C	19: 21,374,908 (GRCm39)	D336G	probably damaging	Het
Grm2	A	T	9: 106,527,645 (GRCm39)	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,346,051 (GRCm39)	N403K	probably damaging	Het
Ifit1	T	A	19: 34,625,238 (GRCm39)	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,800,892 (GRCm39)	V2I	probably benign	Het
Kat5	A	C	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Klc2	A	G	19: 5,162,884 (GRCm39)	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,761,706 (GRCm39)	T133S	possibly damaging	Het
Krt20	A	G	11: 99,326,283 (GRCm39)	L157P	probably damaging	Het
Krt26	G	T	11: 99,228,597 (GRCm39)	T45N	possibly damaging	Het
Lama2	C	T	10: 26,866,876 (GRCm39)	D2873N	probably damaging	Het
Lig1	T	A	7: 13,020,532 (GRCm39)	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Maml2	A	T	9: 13,608,616 (GRCm39)	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,794,720 (GRCm39)	V83I	probably benign	Het
Myo3b	A	G	2: 70,069,254 (GRCm39)	R498G	probably benign	Het
Nup153	C	A	13: 46,837,482 (GRCm39)	E1247*	probably null	Het
Or2t48	A	T	11: 58,420,557 (GRCm39)	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,277,257 (GRCm39)	N79S	probably benign	Het
Pcgf6	C	T	19: 47,036,406 (GRCm39)	G221D	probably damaging	Het
Phf11b	C	T	14: 59,558,953 (GRCm39)	D260N	probably benign	Het
Pla2g5	T	C	4: 138,531,921 (GRCm39)	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,395,927 (GRCm39)	S1934P	possibly damaging	Het
Prr5	A	G	15: 84,640,570 (GRCm39)	S140G	probably benign	Het
Prrc2c	T	C	1: 162,501,098 (GRCm39)	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rassf8	C	T	6: 145,765,907 (GRCm39)		probably benign	Het
Rgs20	T	A	1: 4,982,666 (GRCm39)	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,372,159 (GRCm39)	A180E	probably damaging	Het
Rnf103	A	G	6: 71,486,992 (GRCm39)	D541G	probably benign	Het
Rpl9	G	T	5: 65,546,468 (GRCm39)	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,506,148 (GRCm39)		probably null	Het
Shank1	C	A	7: 43,962,160 (GRCm39)	D10E	unknown	Het
Srrm4	G	T	5: 116,587,672 (GRCm39)		probably benign	Het
Sucla2	T	A	14: 73,832,836 (GRCm39)	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,331,055 (GRCm39)	D78G	probably benign	Het
Tcp1	T	A	17: 13,138,224 (GRCm39)		probably null	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Thsd7b	G	A	1: 130,090,673 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,797,811 (GRCm39)	M621V	probably benign	Het
Tnxb	A	T	17: 34,936,504 (GRCm39)	K2756*	probably null	Het
Trpm8	G	A	1: 88,287,373 (GRCm39)		probably null	Het
Txndc16	C	A	14: 45,373,335 (GRCm39)	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,492,020 (GRCm39)	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,049,206 (GRCm39)	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464 (GRCm39)	M1810K	probably benign	Het
Zfp64	T	A	2: 168,741,888 (GRCm39)	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,787,719 (GRCm39)	D532G	probably damaging	Het

Other mutations in Dync1i2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Dync1i2	APN	2	71,078,299 (GRCm39)	splice site	probably benign
IGL01609:Dync1i2	APN	2	71,077,352 (GRCm39)	splice site	probably benign
IGL02479:Dync1i2	APN	2	71,066,323 (GRCm39)	missense	probably damaging	1.00
IGL02545:Dync1i2	APN	2	71,093,095 (GRCm39)	missense	possibly damaging	0.95
3-1:Dync1i2	UTSW	2	71,078,172 (GRCm39)	missense	probably damaging	1.00
R0015:Dync1i2	UTSW	2	71,044,828 (GRCm39)	missense	probably damaging	1.00
R0015:Dync1i2	UTSW	2	71,044,828 (GRCm39)	missense	probably damaging	1.00
R0437:Dync1i2	UTSW	2	71,058,169 (GRCm39)	critical splice acceptor site	probably null
R0555:Dync1i2	UTSW	2	71,044,862 (GRCm39)	frame shift	probably null
R0835:Dync1i2	UTSW	2	71,081,316 (GRCm39)	missense	probably damaging	1.00
R1146:Dync1i2	UTSW	2	71,058,164 (GRCm39)	splice site	probably benign
R1452:Dync1i2	UTSW	2	71,080,207 (GRCm39)	splice site	probably benign
R1662:Dync1i2	UTSW	2	71,081,323 (GRCm39)	missense	possibly damaging	0.87
R1765:Dync1i2	UTSW	2	71,079,759 (GRCm39)	missense	probably benign
R2059:Dync1i2	UTSW	2	71,080,197 (GRCm39)	critical splice donor site	probably null
R2145:Dync1i2	UTSW	2	71,044,907 (GRCm39)	splice site	probably benign
R2233:Dync1i2	UTSW	2	71,079,764 (GRCm39)	nonsense	probably null
R2234:Dync1i2	UTSW	2	71,079,764 (GRCm39)	nonsense	probably null
R2235:Dync1i2	UTSW	2	71,079,764 (GRCm39)	nonsense	probably null
R3151:Dync1i2	UTSW	2	71,064,060 (GRCm39)	splice site	probably benign
R3916:Dync1i2	UTSW	2	71,079,716 (GRCm39)	missense	probably damaging	1.00
R4653:Dync1i2	UTSW	2	71,078,199 (GRCm39)	missense	probably damaging	1.00
R4720:Dync1i2	UTSW	2	71,064,018 (GRCm39)	missense	probably damaging	1.00
R4920:Dync1i2	UTSW	2	71,077,668 (GRCm39)	missense	probably damaging	1.00
R5574:Dync1i2	UTSW	2	71,063,994 (GRCm39)	missense	probably benign	0.15
R5677:Dync1i2	UTSW	2	71,058,967 (GRCm39)	missense	probably benign	0.00
R5711:Dync1i2	UTSW	2	71,081,326 (GRCm39)	missense	probably benign	0.31
R6730:Dync1i2	UTSW	2	71,077,484 (GRCm39)	missense	probably benign	0.18
R6911:Dync1i2	UTSW	2	71,077,446 (GRCm39)	missense	probably benign
R7140:Dync1i2	UTSW	2	71,078,283 (GRCm39)	missense	probably benign	0.03
R7257:Dync1i2	UTSW	2	71,079,700 (GRCm39)	missense	possibly damaging	0.92
R7460:Dync1i2	UTSW	2	71,081,230 (GRCm39)	missense	probably damaging	0.97
R7808:Dync1i2	UTSW	2	71,081,178 (GRCm39)	splice site	probably null
R8187:Dync1i2	UTSW	2	71,044,865 (GRCm39)	missense	probably benign	0.13
R9340:Dync1i2	UTSW	2	71,093,019 (GRCm39)	missense	probably damaging	0.99
Z1176:Dync1i2	UTSW	2	71,078,228 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCTGAGTTGGTATGAAACTGCC -3'
(R):5'- TTCAAGGCAGAGCTGTCTCTC -3'

Sequencing Primer
(F):5'- GTATGAAACTGCCTTAGGATCTCTGC -3'
(R):5'- TTGTGATGAAGCTACAATCACAGAGC -3'

Posted On

2016-11-08