Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Actr1b'

579232

Institutional Source

Beutler Lab

Gene Symbol

Actr1b

Ensembl Gene

ENSMUSG00000037351

Gene Name

ARP1 actin-related protein 1B, centractin beta

Synonyms

2310066K23Rik, Arp1b

MMRRC Submission

045547-MU

Accession Numbers

Essential gene?

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

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36737195-36749051 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36748900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 12 (V12A)

Ref Sequence

ENSEMBL: ENSMUSP00000047326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084] [ENSMUST00000192873] [ENSMUST00000208994]

AlphaFold

Q8R5C5

Predicted Effect

probably benign
Transcript: ENSMUST00000043951
AA Change: V12A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: V12A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000192873

Predicted Effect

probably benign
Transcript: ENSMUST00000208994

Meta Mutation Damage Score

0.1421

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,965,960 (GRCm39)		probably null	Het
A630095N17Rik	G	A	1: 75,208,675 (GRCm39)	T15I	unknown	Het
Add1	A	G	5: 34,776,697 (GRCm39)	T473A	possibly damaging	Het
Akap11	A	T	14: 78,751,328 (GRCm39)	V353E		Het
Alcam	G	A	16: 52,272,882 (GRCm39)		probably benign	Het
Alpi	A	G	1: 87,027,369 (GRCm39)		probably null	Het
Ap3s2	A	G	7: 79,565,779 (GRCm39)	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,037,886 (GRCm39)	K174E	probably benign	Het
Bbox1	A	T	2: 110,095,843 (GRCm39)	S374T	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp2	T	C	11: 78,157,941 (GRCm39)	S368P	possibly damaging	Het
Bmp2k	A	G	5: 97,204,871 (GRCm39)	N402S	probably benign	Het
Bmper	C	A	9: 23,286,926 (GRCm39)	A284D	probably benign	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Bpifb2	A	T	2: 153,723,116 (GRCm39)	H124L	possibly damaging	Het
Bsn	C	T	9: 107,989,449 (GRCm39)	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,607,018 (GRCm39)	D67V	probably damaging	Het
Catsperg1	A	G	7: 28,894,903 (GRCm39)	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,779 (GRCm39)	E252K	probably damaging	Het
Cep55	G	A	19: 38,058,384 (GRCm39)	E326K	probably damaging	Het
Cfap58	T	A	19: 47,963,064 (GRCm39)	Y491*	probably null	Het
Cpeb2	T	C	5: 43,434,848 (GRCm39)	S747P		Het
Cryz	T	A	3: 154,312,157 (GRCm39)	S85T	probably benign	Het
D2hgdh	T	C	1: 93,765,800 (GRCm39)	V367A	probably damaging	Het
Dgkh	T	C	14: 78,836,483 (GRCm39)	N703S	probably benign	Het
Dnah11	T	C	12: 117,866,911 (GRCm39)	S4077G	probably benign	Het
Dnah14	A	G	1: 181,579,704 (GRCm39)	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,382,484 (GRCm39)	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,526,370 (GRCm39)	D804G	probably damaging	Het
Ell2	A	G	13: 75,898,154 (GRCm39)	E143G	probably damaging	Het
Exoc2	A	G	13: 31,006,613 (GRCm39)		probably null	Het
Fahd2a	A	T	2: 127,282,376 (GRCm39)	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,460,689 (GRCm39)	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,531,405 (GRCm39)	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,387,990 (GRCm39)	V170I	probably benign	Het
Gcn1	G	A	5: 115,719,863 (GRCm39)	V373M	probably benign	Het
Gm19965	A	G	1: 116,749,602 (GRCm39)	T428A	unknown	Het
Gm4792	A	G	10: 94,129,730 (GRCm39)	I124T	unknown	Het
Grik2	A	T	10: 48,989,618 (GRCm39)	C804S	probably benign	Het
Heatr6	T	A	11: 83,672,217 (GRCm39)	I1075N	probably damaging	Het
Hunk	G	A	16: 90,250,588 (GRCm39)	A211T	probably damaging	Het
Ighe	T	C	12: 113,234,976 (GRCm39)	I395V	probably damaging	Het
Ino80e	A	T	7: 126,456,484 (GRCm39)	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,408,534 (GRCm39)	Y305C	probably benign	Het
Insrr	T	A	3: 87,711,838 (GRCm39)		probably null	Het
Itgae	T	G	11: 73,031,504 (GRCm39)	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,705,141 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,006,630 (GRCm39)	K80M	probably benign	Het
Map2	A	T	1: 66,454,617 (GRCm39)	D1169V	probably damaging	Het
Mpst	G	T	15: 78,297,726 (GRCm39)	C248F	probably damaging	Het
Myo9a	C	A	9: 59,802,527 (GRCm39)	Q2005K	probably benign	Het
Nfatc4	C	T	14: 56,069,421 (GRCm39)	T649I	probably benign	Het
Nmt1	A	G	11: 102,937,226 (GRCm39)	R88G	probably benign	Het
Nqo1	G	A	8: 108,129,729 (GRCm39)		probably benign	Het
Nudt2	T	G	4: 41,477,576 (GRCm39)	M19R	probably benign	Het
Or10a49	T	A	7: 108,467,476 (GRCm39)	K295M	probably damaging	Het
Or12d2	T	A	17: 37,624,522 (GRCm39)	Y251F	probably benign	Het
Or9q2	C	T	19: 13,772,526 (GRCm39)	V150M	probably benign	Het
P2ry1	T	A	3: 60,911,509 (GRCm39)	I216N	probably damaging	Het
Pcx	T	A	19: 4,669,589 (GRCm39)	L823*	probably null	Het
Pkhd1	A	G	1: 20,619,980 (GRCm39)	V880A	probably damaging	Het
Plcb1	A	T	2: 135,186,196 (GRCm39)	N721I	probably damaging	Het
Prdm15	T	C	16: 97,623,046 (GRCm39)	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,785,996 (GRCm39)	V224A	possibly damaging	Het
Reln	A	G	5: 22,134,125 (GRCm39)	V2601A	probably benign	Het
Rspo4	G	A	2: 151,714,993 (GRCm39)	R210Q	unknown	Het
Slc7a5	A	T	8: 122,615,162 (GRCm39)	D228E	probably benign	Het
Spopfm2	T	A	3: 94,083,509 (GRCm39)	K101*	probably null	Het
Tas2r115	A	G	6: 132,714,214 (GRCm39)	S246P	probably damaging	Het
Tenm4	A	G	7: 96,423,353 (GRCm39)	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,108,923 (GRCm39)	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,889,841 (GRCm39)	I27T	probably benign	Het
Tigd5	G	A	15: 75,781,748 (GRCm39)	G37S	probably benign	Het
Tmem259	C	T	10: 79,815,506 (GRCm39)	D102N	possibly damaging	Het
Tpo	T	G	12: 30,142,589 (GRCm39)	I712L	probably benign	Het
Ttn	G	A	2: 76,700,892 (GRCm39)	T21M	possibly damaging	Het
Utp20	A	T	10: 88,656,572 (GRCm39)		probably null	Het
Xrcc5	A	G	1: 72,351,748 (GRCm39)	D106G	probably damaging	Het
Xrn1	T	A	9: 95,861,194 (GRCm39)	F451L	probably benign	Het
Zar1l	T	A	5: 150,441,203 (GRCm39)	D141V	probably damaging	Het
Zfp27	A	T	7: 29,595,324 (GRCm39)	C214S	possibly damaging	Het
Znfx1	A	T	2: 166,880,744 (GRCm39)	C1211S	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
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
R9334:Actr1b	UTSW	1	36,739,251 (GRCm39)	missense	probably damaging	1.00
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'- AGAGCATTAAGGACCGCCTG -3'
(R):5'- GCCGTCAATCAGGTCATTTG -3'

Sequencing Primer
(F):5'- ATTAAGGACCGCCTGACTGTGATC -3'
(R):5'- GTCAATCAGGTCATTTGGCATC -3'

Posted On

2019-10-07