Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Acvr1c'

617800

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

Alk-7, ALK7

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58157465-58247907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58186129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 118 (I118T)

Ref Sequence

ENSEMBL: ENSMUSP00000028178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028178] [ENSMUST00000100085] [ENSMUST00000112607] [ENSMUST00000112608] [ENSMUST00000154453]

AlphaFold

Q8K348

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028178
AA Change: I118T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: I118T

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	3.1e-13	PFAM
transmembrane domain	114	136	N/A	INTRINSIC
GS	165	195	1.07e-13	SMART
Blast:TyrKc	201	472	3e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000100085

SMART Domains

Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	1	50	1.1e-7	PFAM
Pfam:TGF_beta_GS	51	63	2.6e-7	PFAM
Pfam:Pkinase	65	352	5.6e-51	PFAM
Pfam:Pkinase_Tyr	65	352	4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112607

SMART Domains

Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	3.5e-15	PFAM
Pfam:Pkinase	51	325	9.5e-37	PFAM
Pfam:Pkinase_Tyr	92	325	4.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112608

SMART Domains

Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Activin_recp	26	100	4.9e-15	PFAM
Pfam:TGF_beta_GS	101	113	1.2e-8	PFAM
Pfam:Pkinase	115	402	2.3e-51	PFAM
Pfam:Pkinase_Tyr	115	402	1.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154453

SMART Domains

Protein: ENSMUSP00000119776
Gene: ENSMUSG00000026834

Domain	Start	End	E-Value	Type
Pfam:Activin_recp	1	50	2.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal with no apparent left-right patterning abnormalities or organogenesis defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	Het

Other mutations in Acvr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Acvr1c	APN	2	58,205,867 (GRCm39)	missense	probably damaging	1.00
IGL00543:Acvr1c	APN	2	58,205,835 (GRCm39)	missense	probably damaging	1.00
IGL01287:Acvr1c	APN	2	58,170,254 (GRCm39)	nonsense	probably null
IGL01313:Acvr1c	APN	2	58,205,986 (GRCm39)	missense	probably benign	0.10
IGL01722:Acvr1c	APN	2	58,173,561 (GRCm39)	splice site	probably benign
R0035:Acvr1c	UTSW	2	58,205,791 (GRCm39)	splice site	probably benign
R0035:Acvr1c	UTSW	2	58,205,791 (GRCm39)	splice site	probably benign
R0329:Acvr1c	UTSW	2	58,174,850 (GRCm39)	missense	probably damaging	0.96
R0330:Acvr1c	UTSW	2	58,174,850 (GRCm39)	missense	probably damaging	0.96
R1311:Acvr1c	UTSW	2	58,170,261 (GRCm39)	missense	probably benign	0.04
R1465:Acvr1c	UTSW	2	58,174,973 (GRCm39)	missense	probably damaging	1.00
R1465:Acvr1c	UTSW	2	58,174,973 (GRCm39)	missense	probably damaging	1.00
R1511:Acvr1c	UTSW	2	58,177,896 (GRCm39)	missense	probably damaging	1.00
R1813:Acvr1c	UTSW	2	58,170,306 (GRCm39)	missense	probably damaging	1.00
R1896:Acvr1c	UTSW	2	58,170,306 (GRCm39)	missense	probably damaging	1.00
R1935:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R1939:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R1940:Acvr1c	UTSW	2	58,173,517 (GRCm39)	missense	probably damaging	1.00
R2001:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R2002:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R2305:Acvr1c	UTSW	2	58,171,711 (GRCm39)	missense	probably damaging	1.00
R4786:Acvr1c	UTSW	2	58,170,366 (GRCm39)	missense	probably damaging	1.00
R4947:Acvr1c	UTSW	2	58,205,987 (GRCm39)	missense	probably benign	0.04
R5121:Acvr1c	UTSW	2	58,171,662 (GRCm39)	missense	probably damaging	1.00
R5133:Acvr1c	UTSW	2	58,173,518 (GRCm39)	missense	probably damaging	1.00
R5381:Acvr1c	UTSW	2	58,177,747 (GRCm39)	missense	probably damaging	1.00
R5383:Acvr1c	UTSW	2	58,177,747 (GRCm39)	missense	probably damaging	1.00
R5647:Acvr1c	UTSW	2	58,185,976 (GRCm39)	missense	probably damaging	1.00
R5988:Acvr1c	UTSW	2	58,205,886 (GRCm39)	missense	probably damaging	1.00
R6860:Acvr1c	UTSW	2	58,177,717 (GRCm39)	missense	probably damaging	1.00
R7137:Acvr1c	UTSW	2	58,173,399 (GRCm39)	critical splice donor site	probably null
R7200:Acvr1c	UTSW	2	58,205,867 (GRCm39)	missense	probably damaging	1.00
R7278:Acvr1c	UTSW	2	58,174,948 (GRCm39)	missense	probably damaging	1.00
R8504:Acvr1c	UTSW	2	58,173,491 (GRCm39)	missense	probably damaging	1.00
R9718:Acvr1c	UTSW	2	58,206,007 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGCACGTACCAGAGCCTG -3'
(R):5'- CGGCTGTATAGTCTACTATAGTCACC -3'

Sequencing Primer
(F):5'- TACCAGAGCCTGAGCCAGAG -3'
(R):5'- AAGGCCATCTTTGTCTGCATAG -3'

Posted On

2020-01-23