Mutagenetix > Incidental Mutation

Incidental Mutation 'R4831:Dctn1'

372803

Institutional Source

Beutler Lab

Gene Symbol

Dctn1

Ensembl Gene

ENSMUSG00000031865

Gene Name

dynactin 1

Synonyms

p150, Glued, p150

MMRRC Submission

042447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4831 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

83142902-83177099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83176753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1231 (Q1231L)

Ref Sequence

ENSEMBL: ENSMUSP00000109551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077407] [ENSMUST00000113907] [ENSMUST00000113913] [ENSMUST00000113918] [ENSMUST00000113919]

AlphaFold

O08788

Predicted Effect

probably benign
Transcript: ENSMUST00000077407
AA Change: Q1227L

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

SMART Domains

Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: Q1227L

Domain	Start	End	E-Value	Type
CAP_GLY	12	78	5.52e-31	SMART
low complexity region	124	147	N/A	INTRINSIC
low complexity region	148	177	N/A	INTRINSIC
SCOP:d1fxkc_	185	337	3e-3	SMART
low complexity region	363	379	N/A	INTRINSIC
Pfam:Dynactin	489	768	8.2e-91	PFAM
low complexity region	800	820	N/A	INTRINSIC
coiled coil region	914	1009	N/A	INTRINSIC
low complexity region	1025	1043	N/A	INTRINSIC
coiled coil region	1143	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113907
AA Change: Q1130L

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

SMART Domains

Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865
AA Change: Q1130L

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
low complexity region	27	50	N/A	INTRINSIC
low complexity region	51	80	N/A	INTRINSIC
low complexity region	93	106	N/A	INTRINSIC
low complexity region	140	158	N/A	INTRINSIC
SCOP:d1lxa__	271	345	8e-3	SMART
Pfam:Dynactin	392	671	7.1e-91	PFAM
low complexity region	703	723	N/A	INTRINSIC
coiled coil region	817	912	N/A	INTRINSIC
low complexity region	928	946	N/A	INTRINSIC
coiled coil region	1046	1075	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000113913
AA Change: Q1252L

SMART Domains

Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: Q1252L

Domain	Start	End	E-Value	Type
CAP_GLY	12	78	5.52e-31	SMART
low complexity region	118	139	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	168	197	N/A	INTRINSIC
SCOP:d1fxkc_	205	357	3e-3	SMART
low complexity region	383	399	N/A	INTRINSIC
Pfam:Dynactin	509	788	2.5e-90	PFAM
low complexity region	820	840	N/A	INTRINSIC
coiled coil region	934	1029	N/A	INTRINSIC
low complexity region	1051	1069	N/A	INTRINSIC
coiled coil region	1168	1197	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113918
AA Change: Q1231L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: Q1231L

Domain	Start	End	E-Value	Type
CAP_GLY	29	95	5.52e-31	SMART
low complexity region	135	156	N/A	INTRINSIC
low complexity region	161	184	N/A	INTRINSIC
low complexity region	185	214	N/A	INTRINSIC
low complexity region	227	240	N/A	INTRINSIC
low complexity region	274	292	N/A	INTRINSIC
low complexity region	400	416	N/A	INTRINSIC
Pfam:Dynactin	526	805	3.3e-90	PFAM
low complexity region	837	857	N/A	INTRINSIC
coiled coil region	951	1046	N/A	INTRINSIC
coiled coil region	1147	1176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113919
AA Change: Q1269L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: Q1269L

Domain	Start	End	E-Value	Type
CAP_GLY	29	95	5.52e-31	SMART
low complexity region	135	156	N/A	INTRINSIC
low complexity region	161	184	N/A	INTRINSIC
low complexity region	185	214	N/A	INTRINSIC
SCOP:d1fxkc_	222	374	3e-3	SMART
low complexity region	400	416	N/A	INTRINSIC
Pfam:Dynactin	522	805	1.4e-103	PFAM
low complexity region	837	857	N/A	INTRINSIC
coiled coil region	951	1046	N/A	INTRINSIC
low complexity region	1068	1086	N/A	INTRINSIC
coiled coil region	1185	1214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153793

Meta Mutation Damage Score

0.0733

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (96/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality and developmental arrest at E7.5 associated with increased apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(20) : Targeted(4) Gene trapped(16)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	T	11: 69,791,403 (GRCm39)	V59I	possibly damaging	Het
4930544M13Rik	T	G	13: 114,744,183 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,492,077 (GRCm39)	K4373*	probably null	Het
Abtb2	A	T	2: 103,513,820 (GRCm39)	T410S	probably benign	Het
Adamts13	T	C	2: 26,873,142 (GRCm39)		probably null	Het
Ahnak2	C	G	12: 112,742,183 (GRCm39)	D630H	probably damaging	Het
Aox3	T	C	1: 58,191,725 (GRCm39)	S426P	probably damaging	Het
Atxn10	C	T	15: 85,271,260 (GRCm39)	S266F	probably benign	Het
B4galnt4	G	T	7: 140,647,634 (GRCm39)	M407I	probably damaging	Het
B4galnt4	T	A	7: 140,644,470 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,197,872 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,955,864 (GRCm39)		probably null	Het
Cdc42bpg	T	C	19: 6,361,365 (GRCm39)	F297S	probably damaging	Het
Cdh10	A	T	15: 19,013,664 (GRCm39)	T755S	probably benign	Het
Ceacam12	T	A	7: 17,811,305 (GRCm39)		probably null	Het
Cfap65	C	A	1: 74,956,454 (GRCm39)	V1042F	possibly damaging	Het
Cfap77	T	C	2: 28,875,844 (GRCm39)	I89V	probably benign	Het
Cfh	T	C	1: 140,014,125 (GRCm39)	D688G	probably benign	Het
Clip1	C	G	5: 123,721,664 (GRCm39)	A1182P	probably damaging	Het
Cyp2b10	T	A	7: 25,614,921 (GRCm39)	Y309*	probably null	Het
Dcaf5	T	C	12: 80,385,858 (GRCm39)	E756G	probably benign	Het
Dennd1c	T	A	17: 57,373,428 (GRCm39)	R682*	probably null	Het
Eml6	C	A	11: 29,727,052 (GRCm39)	E1319*	probably null	Het
Erap1	T	C	13: 74,838,766 (GRCm39)	I904T	probably damaging	Het
Eri1	A	T	8: 35,943,673 (GRCm39)	I207N	possibly damaging	Het
Farp1	G	A	14: 121,514,469 (GRCm39)	A933T	probably damaging	Het
Fcna	T	A	2: 25,515,353 (GRCm39)	Q210L	probably benign	Het
Fhad1	A	T	4: 141,643,378 (GRCm39)		probably null	Het
Fut8	T	G	12: 77,440,603 (GRCm39)	Y197D	probably damaging	Het
Garem1	G	A	18: 21,262,825 (GRCm39)	T663I	probably benign	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Gstk1	T	G	6: 42,222,938 (GRCm39)		probably benign	Het
Helz2	C	T	2: 180,879,210 (GRCm39)	A803T	probably damaging	Het
Igsf9	T	A	1: 172,319,455 (GRCm39)	I280N	probably damaging	Het
Klhl10	A	G	11: 100,336,669 (GRCm39)	K219E	probably benign	Het
L3mbtl4	T	A	17: 68,768,558 (GRCm39)	V222D	probably damaging	Het
Lrrc9	A	T	12: 72,546,453 (GRCm39)	N1214Y	probably damaging	Het
Ltbp2	C	T	12: 84,840,414 (GRCm39)	E1051K	possibly damaging	Het
Mettl17	T	C	14: 52,122,440 (GRCm39)	F13S	probably benign	Het
Mettl24	C	A	10: 40,559,413 (GRCm39)	A21D	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,331 (GRCm39)	C61S	probably benign	Het
Mob4	T	G	1: 55,191,899 (GRCm39)	D204E	probably benign	Het
Mtus1	C	G	8: 41,536,189 (GRCm39)	R509T	probably damaging	Het
Nlrp4a	T	A	7: 26,149,844 (GRCm39)	F484I	possibly damaging	Het
Nsrp1	T	C	11: 76,941,444 (GRCm39)	N88S	probably benign	Het
Odad2	G	T	18: 7,222,564 (GRCm39)	H568Q	possibly damaging	Het
Or10d5	C	T	9: 39,861,408 (GRCm39)	V220I	probably benign	Het
Or2g25	T	A	17: 37,970,969 (GRCm39)	H85L	probably benign	Het
Or51b6b	T	C	7: 103,309,678 (GRCm39)	T260A	probably benign	Het
Or6c2	T	A	10: 129,362,449 (GRCm39)	Y118N	probably damaging	Het
Parg	A	G	14: 31,924,408 (GRCm39)	N69S	probably benign	Het
Pcdh9	A	C	14: 94,125,377 (GRCm39)	N264K	probably damaging	Het
Pcdhb22	G	T	18: 37,653,615 (GRCm39)	L694F	probably damaging	Het
Pcnt	T	C	10: 76,248,335 (GRCm39)	E928G	probably damaging	Het
Pdzk1	G	A	3: 96,775,751 (GRCm39)	G373D	probably benign	Het
Pea15a	A	G	1: 172,026,740 (GRCm39)	I89T	probably damaging	Het
Phc1	T	A	6: 122,313,964 (GRCm39)		probably benign	Het
Pikfyve	T	A	1: 65,235,900 (GRCm39)	C191S	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Pld5	A	G	1: 176,102,450 (GRCm39)		probably benign	Het
Plscr2	A	T	9: 92,173,130 (GRCm39)	N89I	possibly damaging	Het
Pm20d2	A	C	4: 33,179,293 (GRCm39)	N315K	probably damaging	Het
Pnpla1	T	A	17: 29,097,518 (GRCm39)	M228K	probably benign	Het
Prim2	T	C	1: 33,709,217 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,246,987 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,050,294 (GRCm39)	H719N	probably benign	Het
Ror2	C	T	13: 53,272,880 (GRCm39)	D250N	probably damaging	Het
Saal1	A	G	7: 46,349,071 (GRCm39)	V281A	probably benign	Het
Selenof	A	T	3: 144,296,411 (GRCm39)	K94N	probably damaging	Het
Slamf9	T	A	1: 172,304,831 (GRCm39)	C148*	probably null	Het
Slc4a7	T	C	14: 14,772,699 (GRCm38)		probably null	Het
Slco1a5	A	G	6: 142,180,431 (GRCm39)	I657T	probably benign	Het
St3gal2	A	T	8: 111,684,480 (GRCm39)	H46L	probably benign	Het
Sucnr1	T	G	3: 59,994,069 (GRCm39)	M199R	probably damaging	Het
Taok1	T	A	11: 77,444,500 (GRCm39)	E525V	probably null	Het
Tbc1d10c	T	A	19: 4,235,445 (GRCm39)	E298V	probably damaging	Het
Tll2	T	A	19: 41,118,951 (GRCm39)	H259L	probably damaging	Het
Tpcn1	A	T	5: 120,691,554 (GRCm39)	F300Y	probably damaging	Het
Uba6	T	A	5: 86,279,197 (GRCm39)	I642L	probably benign	Het
Ubqln5	T	A	7: 103,778,829 (GRCm39)		probably benign	Het
Vmn1r27	A	T	6: 58,192,827 (GRCm39)	L9Q	possibly damaging	Het
Vmn2r100	C	T	17: 19,741,672 (GRCm39)	T128I	probably benign	Het
Vmn2r109	C	T	17: 20,761,494 (GRCm39)	G621D	probably benign	Het
Vmn2r49	C	T	7: 9,720,352 (GRCm39)	D380N	probably benign	Het
Vps13a	C	T	19: 16,655,356 (GRCm39)	V1891I	probably benign	Het
Wbp2	G	T	11: 115,971,463 (GRCm39)	Y147*	probably null	Het
Wdr46	T	A	17: 34,160,810 (GRCm39)	N191K	probably benign	Het
Wdr46	T	C	17: 34,168,373 (GRCm39)		probably benign	Het
Wnt2	A	C	6: 18,023,285 (GRCm39)	F121L	probably benign	Het
Xpnpep1	T	A	19: 53,003,053 (GRCm39)	D100V	probably benign	Het
Xpo4	T	C	14: 57,827,559 (GRCm39)	Y879C	probably damaging	Het
Zswim4	A	T	8: 84,938,948 (GRCm39)	V978D	probably damaging	Het

Other mutations in Dctn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Dctn1	APN	6	83,156,879 (GRCm39)	missense	probably benign	0.00
IGL01450:Dctn1	APN	6	83,171,092 (GRCm39)	unclassified	probably benign
IGL01876:Dctn1	APN	6	83,174,903 (GRCm39)	missense	probably damaging	1.00
IGL01958:Dctn1	APN	6	83,168,326 (GRCm39)	missense	possibly damaging	0.95
IGL02554:Dctn1	APN	6	83,159,704 (GRCm39)	missense	probably damaging	1.00
IGL02668:Dctn1	APN	6	83,168,030 (GRCm39)	missense	possibly damaging	0.89
IGL02814:Dctn1	APN	6	83,166,896 (GRCm39)	missense	probably damaging	1.00
IGL02818:Dctn1	APN	6	83,169,496 (GRCm39)	missense	possibly damaging	0.86
IGL03007:Dctn1	APN	6	83,159,690 (GRCm39)	missense	probably damaging	1.00
IGL03065:Dctn1	APN	6	83,169,475 (GRCm39)	missense	probably damaging	0.99
IGL03083:Dctn1	APN	6	83,174,466 (GRCm39)	splice site	probably benign
IGL03394:Dctn1	APN	6	83,168,266 (GRCm39)	missense	possibly damaging	0.61
E0374:Dctn1	UTSW	6	83,171,156 (GRCm39)	missense	possibly damaging	0.93
IGL03014:Dctn1	UTSW	6	83,174,351 (GRCm39)	intron	probably benign
PIT4812001:Dctn1	UTSW	6	83,176,744 (GRCm39)	missense	possibly damaging	0.86
R0044:Dctn1	UTSW	6	83,168,116 (GRCm39)	missense	probably damaging	1.00
R0047:Dctn1	UTSW	6	83,159,614 (GRCm39)	nonsense	probably null
R0047:Dctn1	UTSW	6	83,159,614 (GRCm39)	nonsense	probably null
R0057:Dctn1	UTSW	6	83,156,874 (GRCm39)	missense	probably benign	0.14
R0731:Dctn1	UTSW	6	83,160,071 (GRCm39)	missense	probably damaging	0.98
R0738:Dctn1	UTSW	6	83,167,089 (GRCm39)	critical splice donor site	probably null
R0755:Dctn1	UTSW	6	83,166,059 (GRCm39)	missense	probably damaging	0.96
R0839:Dctn1	UTSW	6	83,167,459 (GRCm39)	missense	possibly damaging	0.53
R1035:Dctn1	UTSW	6	83,167,202 (GRCm39)	missense	probably damaging	1.00
R1454:Dctn1	UTSW	6	83,174,490 (GRCm39)	missense	possibly damaging	0.93
R1469:Dctn1	UTSW	6	83,169,871 (GRCm39)	missense	probably damaging	1.00
R1469:Dctn1	UTSW	6	83,169,871 (GRCm39)	missense	probably damaging	1.00
R1627:Dctn1	UTSW	6	83,172,064 (GRCm39)	missense	probably damaging	0.99
R1631:Dctn1	UTSW	6	83,174,578 (GRCm39)	missense	possibly damaging	0.56
R1812:Dctn1	UTSW	6	83,169,500 (GRCm39)	missense	possibly damaging	0.85
R1928:Dctn1	UTSW	6	83,176,166 (GRCm39)	splice site	probably benign
R2008:Dctn1	UTSW	6	83,166,938 (GRCm39)	missense	probably damaging	0.99
R2242:Dctn1	UTSW	6	83,176,687 (GRCm39)	missense	probably damaging	0.99
R2259:Dctn1	UTSW	6	83,174,568 (GRCm39)	missense	possibly damaging	0.46
R2422:Dctn1	UTSW	6	83,176,782 (GRCm39)	missense	possibly damaging	0.92
R2483:Dctn1	UTSW	6	83,171,169 (GRCm39)	missense	probably damaging	1.00
R4455:Dctn1	UTSW	6	83,172,031 (GRCm39)	missense	probably damaging	1.00
R4724:Dctn1	UTSW	6	83,166,920 (GRCm39)	missense	possibly damaging	0.53
R4812:Dctn1	UTSW	6	83,166,919 (GRCm39)	missense	probably benign	0.24
R4819:Dctn1	UTSW	6	83,167,501 (GRCm39)	missense	probably damaging	0.97
R4928:Dctn1	UTSW	6	83,166,189 (GRCm39)	missense	possibly damaging	0.73
R5087:Dctn1	UTSW	6	83,168,621 (GRCm39)	missense	probably damaging	1.00
R5354:Dctn1	UTSW	6	83,160,108 (GRCm39)	missense	possibly damaging	0.93
R5372:Dctn1	UTSW	6	83,167,192 (GRCm39)	missense	probably damaging	0.96
R5493:Dctn1	UTSW	6	83,159,546 (GRCm39)	missense	possibly damaging	0.89
R5494:Dctn1	UTSW	6	83,159,546 (GRCm39)	missense	possibly damaging	0.89
R5732:Dctn1	UTSW	6	83,174,931 (GRCm39)	critical splice donor site	probably null
R5856:Dctn1	UTSW	6	83,174,847 (GRCm39)	missense	probably damaging	1.00
R6025:Dctn1	UTSW	6	83,170,673 (GRCm39)	splice site	probably null
R6999:Dctn1	UTSW	6	83,168,263 (GRCm39)	missense	possibly damaging	0.89
R7052:Dctn1	UTSW	6	83,172,262 (GRCm39)	splice site	probably null
R7133:Dctn1	UTSW	6	83,157,026 (GRCm39)	splice site	probably null
R7485:Dctn1	UTSW	6	83,166,887 (GRCm39)	missense	possibly damaging	0.85
R7607:Dctn1	UTSW	6	83,172,051 (GRCm39)	nonsense	probably null
R7729:Dctn1	UTSW	6	83,160,042 (GRCm39)	missense	probably damaging	1.00
R7749:Dctn1	UTSW	6	83,163,123 (GRCm39)	intron	probably benign
R8282:Dctn1	UTSW	6	83,176,738 (GRCm39)	missense	possibly damaging	0.91
R8750:Dctn1	UTSW	6	83,160,108 (GRCm39)	missense	possibly damaging	0.93
R9126:Dctn1	UTSW	6	83,169,835 (GRCm39)	missense	probably damaging	0.99
R9208:Dctn1	UTSW	6	83,176,684 (GRCm39)	missense	probably benign	0.33
R9422:Dctn1	UTSW	6	83,170,691 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GTGTTACCGTGGTGTCAGAC -3'
(R):5'- AACCCAGGTTACGGAAGCAG -3'

Sequencing Primer
(F):5'- AGACGTGAAGCCTCAGTTTC -3'
(R):5'- TTACGGAAGCAGCAGGACCC -3'

Posted On

2016-03-01