Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Actrt3'

588105

Institutional Source

Beutler Lab

Gene Symbol

Actrt3

Ensembl Gene

ENSMUSG00000037737

Gene Name

actin related protein T3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30597073-30599939 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30598547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 133 (A133T)

Ref Sequence

ENSEMBL: ENSMUSP00000048360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000047630] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]

AlphaFold

Q8BXF8

Predicted Effect

probably benign
Transcript: ENSMUST00000047502

SMART Domains

Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047630
AA Change: A133T

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

SMART Domains

Protein: ENSMUSP00000048360
Gene: ENSMUSG00000037737
AA Change: A133T

Domain	Start	End	E-Value	Type
ACTIN	5	369	3.33e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192715

SMART Domains

Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195396

SMART Domains

Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195751

SMART Domains

Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Actrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Actrt3	APN	3	30598039	missense	probably damaging	0.99
IGL01783:Actrt3	APN	3	30598475	missense	probably benign	0.33
IGL02684:Actrt3	APN	3	30599691	missense	probably benign	0.15
R0017:Actrt3	UTSW	3	30598273	missense	probably benign	0.00
R0410:Actrt3	UTSW	3	30598124	missense	probably benign
R0574:Actrt3	UTSW	3	30599680	missense	probably benign	0.21
R1710:Actrt3	UTSW	3	30599752	missense	probably damaging	1.00
R1907:Actrt3	UTSW	3	30598567	missense	probably damaging	1.00
R2338:Actrt3	UTSW	3	30597836	makesense	probably null
R2870:Actrt3	UTSW	3	30599698	missense	probably damaging	1.00
R2870:Actrt3	UTSW	3	30599698	missense	probably damaging	1.00
R4913:Actrt3	UTSW	3	30598439	missense	probably benign
R5683:Actrt3	UTSW	3	30598278	missense	probably benign
R5719:Actrt3	UTSW	3	30598127	missense	probably benign	0.40
R5942:Actrt3	UTSW	3	30598664	missense	possibly damaging	0.50
R6153:Actrt3	UTSW	3	30599750	missense	probably damaging	1.00
R6177:Actrt3	UTSW	3	30598167	nonsense	probably null
R6741:Actrt3	UTSW	3	30598514	missense	possibly damaging	0.85
R7584:Actrt3	UTSW	3	30598207	missense	probably benign	0.06
R8166:Actrt3	UTSW	3	30598525	missense	probably damaging	1.00
R8381:Actrt3	UTSW	3	30597836	makesense	probably null
R8768:Actrt3	UTSW	3	30597843	missense	probably damaging	1.00
R9091:Actrt3	UTSW	3	30598632	missense	probably damaging	1.00
R9270:Actrt3	UTSW	3	30598632	missense	probably damaging	1.00
R9331:Actrt3	UTSW	3	30597901	missense	probably damaging	1.00
Z1177:Actrt3	UTSW	3	30598003	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CGGTTCTAAGCAGCATGATACC -3'
(R):5'- AGTGGAACGGGGTCTCATTTC -3'

Sequencing Primer
(F):5'- GGTTCTAAGCAGCATGATACCATCAC -3'
(R):5'- GAACGGGGTCTCATTTCCTCCTG -3'

Posted On

2019-10-24