Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Armc7'

194065

Institutional Source

Beutler Lab

Gene Symbol

Armc7

Ensembl Gene

ENSMUSG00000057219

Gene Name

armadillo repeat containing 7

Synonyms

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R1747 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

115366493-115381293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115379583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 94 (V94I)

Ref Sequence

ENSEMBL: ENSMUSP00000046120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021082] [ENSMUST00000035240] [ENSMUST00000106530]

AlphaFold

Q3UJZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000021082

SMART Domains

Protein: ENSMUSP00000021082
Gene: ENSMUSG00000020736

Domain	Start	End	E-Value	Type
Pfam:NT5C	5	198	1.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035240
AA Change: V94I

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

SMART Domains

Protein: ENSMUSP00000046120
Gene: ENSMUSG00000057219
AA Change: V94I

Domain	Start	End	E-Value	Type
Pfam:Arm	87	127	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106530

SMART Domains

Protein: ENSMUSP00000102140
Gene: ENSMUSG00000020736

Domain	Start	End	E-Value	Type
Pfam:NT5C	5	158	6.8e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140181

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,608,814 (GRCm39)	S117N	probably damaging	Het
Acat3	A	G	17: 13,143,695 (GRCm39)	I349T	possibly damaging	Het
Add3	A	G	19: 53,230,981 (GRCm39)	N552S	probably benign	Het
Ak3	G	T	19: 29,000,261 (GRCm39)	P217T	possibly damaging	Het
Aox1	A	T	1: 58,378,751 (GRCm39)	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,216,982 (GRCm39)	M118T	probably damaging	Het
Arhgap28	C	A	17: 68,208,304 (GRCm39)	A105S	probably benign	Het
Arhgef28	T	C	13: 98,073,332 (GRCm39)	E1368G	probably damaging	Het
Asxl1	C	A	2: 153,235,374 (GRCm39)	T223N	possibly damaging	Het
Btbd8	T	C	5: 107,599,865 (GRCm39)	S119P	probably damaging	Het
Cltc	T	C	11: 86,597,907 (GRCm39)	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,469,118 (GRCm39)	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,964,529 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,041,568 (GRCm39)	I371V	probably benign	Het
Dennd4c	T	C	4: 86,725,675 (GRCm39)	F710L	probably damaging	Het
Diaph3	T	C	14: 87,310,773 (GRCm39)	D126G	probably damaging	Het
Dnm3	G	A	1: 162,141,153 (GRCm39)	R369C	probably damaging	Het
Dst	A	C	1: 34,199,790 (GRCm39)	Q86P	probably damaging	Het
Ern2	C	A	7: 121,773,042 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,773,043 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,628,217 (GRCm39)		probably null	Het
Glg1	G	A	8: 111,924,305 (GRCm39)	R228C	probably damaging	Het
Gm4736	G	A	6: 132,092,633 (GRCm39)		noncoding transcript	Het
Hmcn2	G	C	2: 31,347,997 (GRCm39)	G4881A	probably benign	Het
Htr2a	T	G	14: 74,943,593 (GRCm39)	F391C	probably damaging	Het
Htr5b	A	T	1: 121,455,647 (GRCm39)	V91E	probably damaging	Het
Ifi44	T	A	3: 151,454,922 (GRCm39)	H101L	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,765,778 (GRCm39)	H608L	probably benign	Het
Lrp4	T	C	2: 91,322,966 (GRCm39)	V1150A	probably damaging	Het
Lyst	T	C	13: 13,932,007 (GRCm39)	F3545S	probably benign	Het
Magi3	T	C	3: 103,941,489 (GRCm39)	D822G	possibly damaging	Het
Nbas	G	A	12: 13,385,899 (GRCm39)	S721N	probably benign	Het
Nog	T	A	11: 89,192,408 (GRCm39)	M147L	probably benign	Het
Npr1	C	T	3: 90,365,976 (GRCm39)	C605Y	possibly damaging	Het
Or7e173	A	C	9: 19,938,613 (GRCm39)	V207G	probably benign	Het
Or8k21	G	A	2: 86,145,211 (GRCm39)	L140F	probably benign	Het
Pgs1	A	G	11: 117,892,457 (GRCm39)	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,071,655 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,627 (GRCm39)	V371I	possibly damaging	Het
Prom1	C	T	5: 44,164,373 (GRCm39)	V703I	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,359,686 (GRCm39)	I390F	probably damaging	Het
Scrt2	C	T	2: 151,935,638 (GRCm39)	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,302,887 (GRCm39)	E661K	possibly damaging	Het
Skic2	G	T	17: 35,066,782 (GRCm39)	P162H	probably benign	Het
Slc10a5	G	T	3: 10,400,451 (GRCm39)	Q70K	probably benign	Het
Smg8	A	G	11: 86,976,129 (GRCm39)	V484A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stag1	T	A	9: 100,770,353 (GRCm39)	S630T	probably benign	Het
Thyn1	A	C	9: 26,916,509 (GRCm39)	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,614,443 (GRCm39)	R203G	possibly damaging	Het
Ttn	T	C	2: 76,708,860 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,179 (GRCm39)	S99L	probably benign	Het
Vmn2r50	T	A	7: 9,781,605 (GRCm39)	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,507,375 (GRCm39)	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,672,214 (GRCm39)	S168P	probably benign	Het
Zc3h7a	A	G	16: 10,963,117 (GRCm39)	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,820,217 (GRCm39)	E913Q	probably benign	Het
Zfp974	G	T	7: 27,610,506 (GRCm39)	F406L	possibly damaging	Het
Zic4	G	A	9: 91,266,199 (GRCm39)	C274Y	probably damaging	Het

Other mutations in Armc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1491:Armc7	UTSW	11	115,367,029 (GRCm39)	missense	probably damaging	1.00
R4810:Armc7	UTSW	11	115,379,787 (GRCm39)	missense	probably benign	0.00
R4904:Armc7	UTSW	11	115,379,800 (GRCm39)	missense	probably damaging	1.00
R6497:Armc7	UTSW	11	115,367,077 (GRCm39)	missense	probably benign	0.01
R8380:Armc7	UTSW	11	115,366,726 (GRCm39)	unclassified	probably benign
R9168:Armc7	UTSW	11	115,366,724 (GRCm39)	unclassified	probably benign
R9597:Armc7	UTSW	11	115,379,712 (GRCm39)	missense	probably benign	0.00
R9600:Armc7	UTSW	11	115,367,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGAAGCCTTGGCAGAGGAC -3'
(R):5'- GCTGAACAAGCACCACTTTGCG -3'

Sequencing Primer
(F):5'- TTGGTGACCTTGCAGTCC -3'
(R):5'- GAATATCTGGGCCAGGTTCC -3'

Posted On

2014-05-23