Mutagenetix > Incidental Mutation

Incidental Mutation 'R9334:Actr1b'

706964

Institutional Source

Beutler Lab

Gene Symbol

Actr1b

Ensembl Gene

ENSMUSG00000037351

Gene Name

ARP1 actin-related protein 1B, centractin beta

Synonyms

2310066K23Rik, Arp1b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R9334 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36737195-36749051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36739251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 346 (I346N)

Ref Sequence

ENSEMBL: ENSMUSP00000047326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]

AlphaFold

Q8R5C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043951
AA Change: I346N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: I346N

Domain	Start	End	E-Value	Type
ACTIN	9	376	9.61e-203	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159448

SMART Domains

Protein: ENSMUSP00000124343
Gene: ENSMUSG00000037351

Domain	Start	End	E-Value	Type
ACTIN	2	149	1.29e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160084

SMART Domains

Protein: ENSMUSP00000125472
Gene: ENSMUSG00000037351

Domain	Start	End	E-Value	Type
Pfam:Actin	2	142	2.3e-51	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.3 kD 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 and 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, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	C	12: 113,454,768 (GRCm39)	E528D	probably damaging	Het
Ang	A	G	14: 51,339,017 (GRCm39)	M53V	possibly damaging	Het
Ankrd26	G	A	6: 118,509,262 (GRCm39)	A601V	probably benign	Het
Atp6v0d2	A	G	4: 19,890,695 (GRCm39)	L155P	probably damaging	Het
Cacna1a	T	C	8: 85,296,594 (GRCm39)	V1204A	probably damaging	Het
Car4	A	G	11: 84,855,415 (GRCm39)	I183V	probably benign	Het
Ccdc149	G	T	5: 52,578,171 (GRCm39)	A87E	possibly damaging	Het
Ccdc88b	A	G	19: 6,833,541 (GRCm39)	M208T	possibly damaging	Het
Ccnt2	T	C	1: 127,723,046 (GRCm39)	L162S	probably damaging	Het
Cd27	A	G	6: 125,213,718 (GRCm39)		probably null	Het
Cfap44	C	A	16: 44,239,654 (GRCm39)	T567K	probably damaging	Het
Cpne5	C	T	17: 29,423,673 (GRCm39)	V152M	probably benign	Het
Cyp2u1	C	T	3: 131,092,065 (GRCm39)	V152M	probably damaging	Het
Dnajc13	A	T	9: 104,051,659 (GRCm39)	F1733I	probably benign	Het
Dop1a	A	G	9: 86,403,027 (GRCm39)	Y1409C	probably damaging	Het
Ecm2	T	C	13: 49,677,815 (GRCm39)	M367T	probably benign	Het
Eif4g2	A	G	7: 110,674,031 (GRCm39)	S658P	possibly damaging	Het
Exoc3l4	T	C	12: 111,397,117 (GRCm39)	L666P	probably damaging	Het
Fbxl4	G	A	4: 22,376,778 (GRCm39)	M71I	probably damaging	Het
Fbxw10	T	C	11: 62,765,910 (GRCm39)	S727P	possibly damaging	Het
Fem1b	A	T	9: 62,703,604 (GRCm39)	L552*	probably null	Het
Filip1	A	T	9: 79,725,739 (GRCm39)	V960D	probably benign	Het
Glipr1l3	A	T	10: 111,979,948 (GRCm39)	M198K	probably benign	Het
Gm19410	T	A	8: 36,270,722 (GRCm39)	C1216*	probably null	Het
Gmps	T	A	3: 63,889,864 (GRCm39)	V81E	probably damaging	Het
Gpr150	G	T	13: 76,204,103 (GRCm39)	Q281K	probably benign	Het
Grsf1	A	G	5: 88,820,469 (GRCm39)	V221A	probably damaging	Het
Gsc	T	A	12: 104,439,353 (GRCm39)	I8F	probably damaging	Het
Homer2	A	T	7: 81,261,078 (GRCm39)	C284*	probably null	Het
Hrg	T	A	16: 22,780,061 (GRCm39)	H446Q	unknown	Het
Jag1	C	T	2: 136,943,593 (GRCm39)	R201H	probably damaging	Het
Kctd15	C	T	7: 34,341,483 (GRCm39)	R148H	possibly damaging	Het
Klhdc7a	G	A	4: 139,693,493 (GRCm39)	R485C	probably benign	Het
Ldhd	T	A	8: 112,353,980 (GRCm39)	I407F	probably benign	Het
Lgals12	G	A	19: 7,578,086 (GRCm39)	R192C	probably benign	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lum	A	T	10: 97,404,347 (GRCm39)	I81F	probably damaging	Het
Map1b	G	T	13: 99,568,148 (GRCm39)	D1524E	unknown	Het
Marveld3	A	G	8: 110,675,036 (GRCm39)	L260S	probably damaging	Het
Mms19	C	T	19: 41,942,203 (GRCm39)	R555H	probably benign	Het
Mrpl37	G	A	4: 106,921,605 (GRCm39)	T208I	probably benign	Het
Mug1	A	T	6: 121,838,490 (GRCm39)	T498S	probably benign	Het
Myo3b	T	C	2: 70,047,360 (GRCm39)	C289R	probably damaging	Het
Myo7a	A	T	7: 97,716,369 (GRCm39)	F1459Y	probably damaging	Het
Neurl4	C	A	11: 69,796,792 (GRCm39)	R518S	probably damaging	Het
Nmnat2	T	G	1: 152,949,585 (GRCm39)	V43G	probably damaging	Het
Or2b11	T	C	11: 59,462,272 (GRCm39)	Y98C	probably damaging	Het
Or2n1b	T	A	17: 38,459,840 (GRCm39)	F120L	probably benign	Het
Or6c6c	A	G	10: 129,541,683 (GRCm39)	N312S	probably benign	Het
Otog	A	G	7: 45,909,353 (GRCm39)	T608A	possibly damaging	Het
Pck2	G	A	14: 55,785,283 (GRCm39)	R482Q	probably damaging	Het
Pcx	G	A	19: 4,670,532 (GRCm39)	M1013I	probably benign	Het
Pex13	A	G	11: 23,605,630 (GRCm39)	M200T	probably benign	Het
Pigt	CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	2: 164,349,420 (GRCm39)		probably null	Het
Pramel32	A	T	4: 88,548,186 (GRCm39)	I73K	probably damaging	Het
Ptpn4	T	C	1: 119,730,114 (GRCm39)	H26R	probably benign	Het
Ralgps2	T	A	1: 156,715,599 (GRCm39)	E72V	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Scube1	A	T	15: 83,512,264 (GRCm39)	C396S	possibly damaging	Het
Sec23b	T	A	2: 144,410,550 (GRCm39)	N283K	possibly damaging	Het
Setx	T	A	2: 29,044,032 (GRCm39)	Y1800*	probably null	Het
Sgce	G	T	6: 4,707,205 (GRCm39)	S213R	probably damaging	Het
Skic3	C	A	13: 76,281,076 (GRCm39)	T704N	possibly damaging	Het
Slc36a2	T	C	11: 55,075,865 (GRCm39)		probably benign	Het
Sult5a1	A	T	8: 123,875,146 (GRCm39)	D129E	probably damaging	Het
Tacr1	A	T	6: 82,380,913 (GRCm39)	H108L	probably damaging	Het
Tnfsf10	T	A	3: 27,389,496 (GRCm39)	Y186N	probably damaging	Het
Unc80	T	C	1: 66,688,919 (GRCm39)	S2428P	possibly damaging	Het
Vwf	G	A	6: 125,654,909 (GRCm39)	R2535H		Het
Zfp532	A	G	18: 65,756,128 (GRCm39)	I20M	probably damaging	Het

Other mutations in Actr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02453:Actr1b	APN	1	36,741,588 (GRCm39)	missense	probably damaging	0.99
IGL02555:Actr1b	APN	1	36,740,828 (GRCm39)	missense	probably damaging	1.00
R1267:Actr1b	UTSW	1	36,739,185 (GRCm39)	missense	probably benign	0.11
R2064:Actr1b	UTSW	1	36,741,168 (GRCm39)	missense	possibly damaging	0.83
R2231:Actr1b	UTSW	1	36,739,440 (GRCm39)	missense	probably damaging	1.00
R4243:Actr1b	UTSW	1	36,740,911 (GRCm39)	missense	possibly damaging	0.61
R4244:Actr1b	UTSW	1	36,740,911 (GRCm39)	missense	possibly damaging	0.61
R4245:Actr1b	UTSW	1	36,740,911 (GRCm39)	missense	possibly damaging	0.61
R5256:Actr1b	UTSW	1	36,739,173 (GRCm39)	missense	probably benign	0.31
R5973:Actr1b	UTSW	1	36,741,162 (GRCm39)	missense	probably damaging	1.00
R6267:Actr1b	UTSW	1	36,740,244 (GRCm39)	missense	possibly damaging	0.63
R7213:Actr1b	UTSW	1	36,741,221 (GRCm39)	missense	probably damaging	1.00
R7473:Actr1b	UTSW	1	36,748,900 (GRCm39)	missense	probably benign	0.01
R8762:Actr1b	UTSW	1	36,748,909 (GRCm39)	missense	probably benign	0.03
R8768:Actr1b	UTSW	1	36,740,588 (GRCm39)	missense	probably benign	0.21
R9051:Actr1b	UTSW	1	36,740,534 (GRCm39)	missense	probably benign	0.00
R9372:Actr1b	UTSW	1	36,741,561 (GRCm39)	missense	probably damaging	0.98
R9765:Actr1b	UTSW	1	36,741,677 (GRCm39)	missense	probably benign	0.07
Z1176:Actr1b	UTSW	1	36,740,289 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACAGGTGACCATGATCGCAC -3'
(R):5'- TACTCCACGTGGATTGGGTGAG -3'

Sequencing Primer
(F):5'- GGGACCCTAATCTTAGAACATGAAC -3'
(R):5'- ATTGGGTGAGATTGGGCTCAAG -3'

Posted On

2022-04-18