Mutagenetix > Incidental Mutation

Incidental Mutation 'R7140:Dync1i2'

553378

Institutional Source

Beutler Lab

Gene Symbol

Dync1i2

Ensembl Gene

ENSMUSG00000027012

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Synonyms

3110079H08Rik, Dncic2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R7140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71042050-71093647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71078283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 324 (H324R)

Ref Sequence

ENSEMBL: ENSMUSP00000107770 (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: H304R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: H304R

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: H324R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: H324R

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: H330R

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: H330R

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: H304R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: H304R

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: H304R

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: H304R

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: H330R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: H330R

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: H324R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: H324R

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: ENSMUST00000112144
AA Change: H330R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: H330R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,610,929 (GRCm39)		probably null	Het
Ap2a2	G	A	7: 141,178,777 (GRCm39)	A148T	probably benign	Het
Arhgef3	A	T	14: 27,123,664 (GRCm39)	N442Y	probably damaging	Het
B3gat3	A	G	19: 8,903,216 (GRCm39)	Y191C	probably damaging	Het
B430306N03Rik	A	T	17: 48,629,483 (GRCm39)	K203*	probably null	Het
C1qtnf6	T	A	15: 78,409,283 (GRCm39)	Y188F	probably benign	Het
Capn10	T	C	1: 92,872,993 (GRCm39)	V573A	possibly damaging	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ccdc43	G	T	11: 102,579,695 (GRCm39)		probably null	Het
Ccng2	C	A	5: 93,416,614 (GRCm39)	P45Q	probably benign	Het
Cd86	T	C	16: 36,441,263 (GRCm39)	H68R	probably benign	Het
Cmtm4	A	G	8: 105,081,827 (GRCm39)	Y187H	probably damaging	Het
Cst11	T	C	2: 148,610,649 (GRCm39)	N134S	probably benign	Het
Cyp3a25	A	T	5: 145,939,855 (GRCm39)	F51I	probably benign	Het
Dnhd1	A	G	7: 105,342,973 (GRCm39)	E1439G	probably benign	Het
Dock4	T	C	12: 40,686,158 (GRCm39)	V131A	probably benign	Het
Dpysl2	A	G	14: 67,099,982 (GRCm39)	S85P	probably benign	Het
Elf1	A	G	14: 79,804,710 (GRCm39)	D162G	probably benign	Het
Eri3	G	A	4: 117,506,604 (GRCm39)		probably null	Het
Fbxl21	T	C	13: 56,680,145 (GRCm39)	S203P	probably damaging	Het
Foxi1	G	A	11: 34,155,758 (GRCm39)	R291C	probably damaging	Het
Gprin3	C	T	6: 59,332,128 (GRCm39)	A60T	possibly damaging	Het
Hecw1	A	G	13: 14,491,118 (GRCm39)	C212R	probably benign	Het
Hivep3	T	C	4: 119,954,318 (GRCm39)	L878P	probably damaging	Het
Hs6st3	A	T	14: 119,376,514 (GRCm39)	N230Y	probably damaging	Het
Htr3b	A	G	9: 48,848,441 (GRCm39)	V268A	possibly damaging	Het
Ip6k3	T	C	17: 27,363,969 (GRCm39)	T360A	probably damaging	Het
Izumo1	A	G	7: 45,275,536 (GRCm39)	T282A	probably benign	Het
Kidins220	T	A	12: 25,086,623 (GRCm39)	I1019N	probably damaging	Het
Med13l	T	C	5: 118,880,037 (GRCm39)	V1043A	probably benign	Het
Mon2	C	T	10: 122,871,358 (GRCm39)	V420I	probably benign	Het
Naip6	T	A	13: 100,436,708 (GRCm39)	Y605F	possibly damaging	Het
Nek7	A	G	1: 138,414,793 (GRCm39)	I285T	probably benign	Het
Notch3	A	G	17: 32,375,351 (GRCm39)	V357A	possibly damaging	Het
Nrxn1	G	A	17: 91,396,192 (GRCm39)		probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or2w4	C	T	13: 21,795,297 (GRCm39)	V281M	possibly damaging	Het
Or4a67	G	A	2: 88,598,308 (GRCm39)	A117V	probably damaging	Het
Or5g9	T	A	2: 85,551,818 (GRCm39)	L23Q	probably damaging	Het
Or6c74	T	G	10: 129,870,083 (GRCm39)	M196R	possibly damaging	Het
Ostm1	C	T	10: 42,559,268 (GRCm39)	A176V	probably null	Het
Pabpc6	C	A	17: 9,887,357 (GRCm39)	S398I	possibly damaging	Het
Pcdhac2	C	A	18: 37,277,239 (GRCm39)	P73H	possibly damaging	Het
Pcdhga9	A	G	18: 37,872,184 (GRCm39)	D671G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigu	A	C	2: 155,143,160 (GRCm39)	L248R	possibly damaging	Het
Pinx1	C	A	14: 64,097,834 (GRCm39)		probably null	Het
Pon3	T	C	6: 5,221,664 (GRCm39)	N322S	possibly damaging	Het
Pramel23	T	G	4: 143,425,002 (GRCm39)	H147P	probably benign	Het
Rnft1	A	G	11: 86,382,586 (GRCm39)	I270V	probably benign	Het
Scgb2b11	A	G	7: 31,910,006 (GRCm39)	F27L	probably damaging	Het
Slc5a4b	C	T	10: 75,910,943 (GRCm39)	V298I	probably damaging	Het
Slco1a6	T	A	6: 142,048,745 (GRCm39)	H345L	probably benign	Het
Sox1	C	T	8: 12,447,405 (GRCm39)	P349S	possibly damaging	Het
Spata31	A	G	13: 65,068,913 (GRCm39)	N354D	probably benign	Het
Speg	T	C	1: 75,383,414 (GRCm39)		probably null	Het
Stpg1	T	C	4: 135,261,033 (GRCm39)	I281T	probably benign	Het
Sult3a1	T	C	10: 33,753,283 (GRCm39)	L193P	probably damaging	Het
Tenm3	A	T	8: 48,745,271 (GRCm39)	C1097S	probably damaging	Het
Tfap2a	A	G	13: 40,883,523 (GRCm39)	S7P	probably benign	Het
Tlr1	T	C	5: 65,083,021 (GRCm39)	I519V	probably benign	Het
Tmem238	A	G	7: 4,792,072 (GRCm39)	V157A	possibly damaging	Het
Tmem45b	A	T	9: 31,345,780 (GRCm39)		probably null	Het
Togaram2	A	T	17: 72,021,761 (GRCm39)	H742L	probably benign	Het
Trpc7	A	T	13: 56,937,487 (GRCm39)	Y656*	probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Xab2	G	A	8: 3,668,117 (GRCm39)	R154C	possibly damaging	Het
Zfp759	A	T	13: 67,288,177 (GRCm39)	H576L	possibly damaging	Het
Zfp958	G	T	8: 4,678,481 (GRCm39)	A169S	probably benign	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
R5620:Dync1i2	UTSW	2	71,088,483 (GRCm39)	missense	probably benign	0.00
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
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'- GCATCTTGGTGAGTGTAACTATGAAG -3'
(R):5'- ACTAAGAGTGCTCAGCTTTGTG -3'

Sequencing Primer
(F):5'- CTTGTGAGCAGTATCCAG -3'
(R):5'- CTCAGCTTTGTGTGTGACAGC -3'

Posted On

2019-05-15