Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Dctn1'

32944

Institutional Source

Beutler Lab

Gene Symbol

Dctn1

Ensembl Gene

ENSMUSG00000031865

Gene Name

dynactin 1

Synonyms

p150, Glued, p150

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

208

Status

Validated (trace)

Chromosome

Chromosomal Location

83142902-83177099 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83159614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 31 (G31*)

Ref Sequence

ENSEMBL: ENSMUSP00000121538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077407] [ENSMUST00000113907] [ENSMUST00000113913] [ENSMUST00000113918] [ENSMUST00000113919] [ENSMUST00000130212] [ENSMUST00000141680]

AlphaFold

O08788

Predicted Effect

probably null
Transcript: ENSMUST00000077407
AA Change: G31*

SMART Domains

Protein: ENSMUSP00000076623
Gene: ENSMUSG00000031865
AA Change: G31*

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

SMART Domains

Protein: ENSMUSP00000109540
Gene: ENSMUSG00000031865

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

probably null
Transcript: ENSMUST00000113913
AA Change: G31*

SMART Domains

Protein: ENSMUSP00000109546
Gene: ENSMUSG00000031865
AA Change: G31*

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

probably null
Transcript: ENSMUST00000113918
AA Change: G48*

SMART Domains

Protein: ENSMUSP00000109551
Gene: ENSMUSG00000031865
AA Change: G48*

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 null
Transcript: ENSMUST00000113919
AA Change: G48*

SMART Domains

Protein: ENSMUSP00000109552
Gene: ENSMUSG00000031865
AA Change: G48*

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

probably null
Transcript: ENSMUST00000130212
AA Change: G31*

SMART Domains

Protein: ENSMUSP00000115838
Gene: ENSMUSG00000031865
AA Change: G31*

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

Predicted Effect

probably null
Transcript: ENSMUST00000141680
AA Change: G31*

SMART Domains

Protein: ENSMUSP00000121538
Gene: ENSMUSG00000031865
AA Change: G31*

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	159	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	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
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
R4831:Dctn1	UTSW	6	83,176,753 (GRCm39)	missense	possibly damaging	0.46
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'- CTGAGCCTCTGACTGACCATGTTG -3'
(R):5'- GGATCTGAGGCCAAAGAACATACCC -3'

Sequencing Primer
(F):5'- ATGTCTTTCTTCCAGACGCC -3'
(R):5'- acacaaacacacacacacac -3'

Posted On

2013-05-09