Mutagenetix > Incidental Mutation

Incidental Mutation 'R0329:Acvr1c'

65080

Institutional Source

Beutler Lab

Gene Symbol

Acvr1c

Ensembl Gene

ENSMUSG00000026834

Gene Name

activin A receptor, type IC

Synonyms

ALK7, Alk-7

MMRRC Submission

038538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58267453-58357895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58284838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 313 (T313A)

Ref Sequence

ENSEMBL: ENSMUSP00000028178 (fasta)

Gene Model

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

AlphaFold

Q8K348

Predicted Effect

probably damaging
Transcript: ENSMUST00000028178
AA Change: T313A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: T313A

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

unknown
Transcript: ENSMUST00000100085
AA Change: T183A

SMART Domains

Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: T183A

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
AA Change: T156A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: T156A

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

possibly damaging
Transcript: ENSMUST00000112608
AA Change: T233A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: T233A

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

noncoding transcript
Transcript: ENSMUST00000131189

Meta Mutation Damage Score

0.3302

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.0%

Validation Efficiency

99% (107/108)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
4931409K22Rik	T	C	5: 24,545,785		probably null	Het
Abca13	A	T	11: 9,399,430	H3668L	probably damaging	Het
Adam28	T	C	14: 68,617,739	K651R	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Atp8a1	T	A	5: 67,812,073		probably benign	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Casp12	T	A	9: 5,345,534		probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cdhr2	T	A	13: 54,734,801		probably benign	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cnnm1	C	T	19: 43,441,910	P489L	probably damaging	Het
Cntnap1	A	T	11: 101,188,309	D1175V	probably damaging	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Crcp	C	A	5: 130,042,242	Q61K	possibly damaging	Het
Dcaf8	T	A	1: 172,187,411	D414E	probably benign	Het
Ddx28	T	C	8: 106,010,245	T394A	probably benign	Het
Ddx55	T	C	5: 124,559,147	F191L	probably benign	Het
Dnaaf1	T	C	8: 119,596,017		probably benign	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elf5	A	G	2: 103,430,420		probably benign	Het
Emcn	T	A	3: 137,416,814		probably benign	Het
Erbb4	T	C	1: 68,298,280		probably benign	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Etfdh	T	C	3: 79,609,844	I353V	probably benign	Het
Fam172a	T	A	13: 77,761,951		probably benign	Het
Fbxl12	C	T	9: 20,638,480	G316D	probably damaging	Het
Gbf1	G	A	19: 46,272,270		probably null	Het
Gbp2b	T	G	3: 142,608,176	S406A	probably benign	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gp1ba	A	G	11: 70,640,409		probably benign	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Hectd4	T	C	5: 121,259,864	I285T	probably benign	Het
Hrh4	A	G	18: 13,007,245		probably benign	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Hspa13	A	T	16: 75,765,130	D60E	probably damaging	Het
Htt	T	A	5: 34,817,134		probably benign	Het
Ispd	C	T	12: 36,381,838	A22V	possibly damaging	Het
Kif14	G	C	1: 136,496,026		probably benign	Het
Kit	T	G	5: 75,652,829	V888G	probably damaging	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrriq4	T	C	3: 30,655,724	S406P	probably benign	Het
Man2c1	T	C	9: 57,141,183	V777A	probably benign	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Mep1a	A	G	17: 43,497,898		probably null	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myo9a	C	G	9: 59,923,677	T2368S	probably damaging	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Npm3	A	G	19: 45,749,526	F11L	probably benign	Het
Nutf2	T	A	8: 105,876,363	S37T	probably damaging	Het
Obscn	T	A	11: 59,040,441	I5790F	probably damaging	Het
Obscn	A	T	11: 59,052,506	D4833E	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr39	T	A	9: 20,285,857	S61T	possibly damaging	Het
Olfr955	T	C	9: 39,470,556	T57A	possibly damaging	Het
Pcdhb1	A	G	18: 37,267,024	D676G	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Pdk1	T	C	2: 71,895,674		probably benign	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Pidd1	A	T	7: 141,439,561		probably benign	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Pot1a	A	G	6: 25,778,831		probably benign	Het
Prdm5	T	C	6: 65,862,903		probably benign	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pyroxd1	A	G	6: 142,361,976	I491V	probably benign	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Slc9b1	C	T	3: 135,373,235	R218*	probably null	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stat4	A	G	1: 52,090,870		probably benign	Het
Steap4	T	C	5: 7,975,829	V130A	possibly damaging	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tgm4	T	C	9: 123,048,557		probably null	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Tmem145	A	G	7: 25,308,674		probably benign	Het
Tsacc	A	G	3: 88,282,862	S94P	possibly damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Ugt2b35	A	G	5: 87,003,405	K290R	probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Usp10	T	A	8: 119,936,557	C39*	probably null	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r7	C	A	3: 64,691,018	C797F	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Wdr27	A	G	17: 14,934,459		probably benign	Het
Ythdc2	A	G	18: 44,865,060		probably benign	Het
Zcwpw2	C	A	9: 118,014,055		noncoding transcript	Het
Zdhhc1	C	A	8: 105,483,543	A81S	probably benign	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het

Other mutations in Acvr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Acvr1c	APN	2	58315855	missense	probably damaging	1.00
IGL00543:Acvr1c	APN	2	58315823	missense	probably damaging	1.00
IGL01287:Acvr1c	APN	2	58280242	nonsense	probably null
IGL01313:Acvr1c	APN	2	58315974	missense	probably benign	0.10
IGL01722:Acvr1c	APN	2	58283549	splice site	probably benign
R0035:Acvr1c	UTSW	2	58315779	splice site	probably benign
R0035:Acvr1c	UTSW	2	58315779	splice site	probably benign
R0330:Acvr1c	UTSW	2	58284838	missense	probably damaging	0.96
R1311:Acvr1c	UTSW	2	58280249	missense	probably benign	0.04
R1465:Acvr1c	UTSW	2	58284961	missense	probably damaging	1.00
R1465:Acvr1c	UTSW	2	58284961	missense	probably damaging	1.00
R1511:Acvr1c	UTSW	2	58287884	missense	probably damaging	1.00
R1813:Acvr1c	UTSW	2	58280294	missense	probably damaging	1.00
R1896:Acvr1c	UTSW	2	58280294	missense	probably damaging	1.00
R1935:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R1939:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R1940:Acvr1c	UTSW	2	58283505	missense	probably damaging	1.00
R2001:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R2002:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R2305:Acvr1c	UTSW	2	58281699	missense	probably damaging	1.00
R4786:Acvr1c	UTSW	2	58280354	missense	probably damaging	1.00
R4947:Acvr1c	UTSW	2	58315975	missense	probably benign	0.04
R5121:Acvr1c	UTSW	2	58281650	missense	probably damaging	1.00
R5133:Acvr1c	UTSW	2	58283506	missense	probably damaging	1.00
R5381:Acvr1c	UTSW	2	58287735	missense	probably damaging	1.00
R5383:Acvr1c	UTSW	2	58287735	missense	probably damaging	1.00
R5647:Acvr1c	UTSW	2	58295964	missense	probably damaging	1.00
R5988:Acvr1c	UTSW	2	58315874	missense	probably damaging	1.00
R6860:Acvr1c	UTSW	2	58287705	missense	probably damaging	1.00
R7137:Acvr1c	UTSW	2	58283387	critical splice donor site	probably null
R7200:Acvr1c	UTSW	2	58315855	missense	probably damaging	1.00
R7278:Acvr1c	UTSW	2	58284936	missense	probably damaging	1.00
R8029:Acvr1c	UTSW	2	58296117	missense	possibly damaging	0.95
R8504:Acvr1c	UTSW	2	58283479	missense	probably damaging	1.00
R9718:Acvr1c	UTSW	2	58315995	missense	probably benign

Predicted Primers

Posted On

2013-08-08