Mutagenetix > Incidental Mutation

Incidental Mutation 'D4043:Armc8'

253

Institutional Source

Beutler Lab

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, Gid5, HSPC056

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

D4043 (G3) of strain 483

Quality Score

Status

Validated

Chromosome

Chromosomal Location

99360425-99450952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99366029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 628 (N628K)

Ref Sequence

ENSEMBL: ENSMUSP00000035043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035043]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035043
AA Change: N628K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: N628K

Domain	Start	End	E-Value	Type
ARM	50	92	1.75e0	SMART
ARM	94	134	5.34e0	SMART
ARM	177	217	2.04e1	SMART
ARM	372	413	3.58e1	SMART
Blast:ARM	414	455	7e-17	BLAST
ARM	457	497	3.81e-1	SMART
ARM	500	540	5.43e1	SMART
Blast:ARM	542	585	1e-20	BLAST
Blast:ARM	633	673	1e-16	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.8%
3x: 72.5%

Validation Efficiency

88% (220/249)

Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,496 (GRCm39)	C319*	probably null	Het
Adgrg1	T	C	8: 95,731,857 (GRCm39)		probably null	Homo
Ago3	A	T	4: 126,244,796 (GRCm39)	V630E	probably damaging	Het
Cfap96	A	G	8: 46,409,440 (GRCm39)	V293A	probably damaging	Het
Chd7	A	G	4: 8,862,650 (GRCm39)	D2579G	probably damaging	Het
Duox1	G	A	2: 122,175,276 (GRCm39)	C1358Y	probably benign	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Homo
Iqub	C	T	6: 24,505,750 (GRCm39)	E53K	possibly damaging	Het
Kirrel1	T	A	3: 86,990,510 (GRCm39)	T771S	probably benign	Het
Lrrc66	A	T	5: 73,764,869 (GRCm39)	S725T	probably benign	Het
Mael	T	C	1: 166,064,455 (GRCm39)	I104M	probably benign	Homo
Mkks	C	T	2: 136,716,530 (GRCm39)	V457I	probably benign	Het
Nadk2	T	A	15: 9,103,473 (GRCm39)		probably benign	Homo
Npas1	T	C	7: 16,197,169 (GRCm39)		probably null	Het
Ocrl	T	C	X: 47,025,200 (GRCm39)	V359A	probably benign	Homo
Or8k27	G	A	2: 86,275,564 (GRCm39)	T254M	probably damaging	Het
Pde6b	C	T	5: 108,573,222 (GRCm39)	R531*	probably null	Het
Polr1a	G	A	6: 71,918,401 (GRCm39)	C653Y	possibly damaging	Het
Rbm26	A	G	14: 105,389,976 (GRCm39)	V216A	possibly damaging	Het
Rin2	C	A	2: 145,664,283 (GRCm39)	H52Q	possibly damaging	Het
Ssc5d	C	T	7: 4,946,982 (GRCm39)	T1112I	possibly damaging	Het
Sv2c	C	T	13: 96,224,989 (GRCm39)	V107M	probably benign	Het
Tasor	A	G	14: 27,193,949 (GRCm39)	I1050V	probably benign	Het
Tulp3	G	A	6: 128,301,113 (GRCm39)	S366L	probably benign	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	Homo

Other mutations in Armc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Armc8	APN	9	99,387,787 (GRCm39)	critical splice acceptor site	probably null
IGL00951:Armc8	APN	9	99,387,757 (GRCm39)	missense	probably benign	0.00
IGL01776:Armc8	APN	9	99,408,936 (GRCm39)	splice site	probably benign
IGL02215:Armc8	APN	9	99,366,031 (GRCm39)	missense	possibly damaging	0.92
IGL02244:Armc8	APN	9	99,365,227 (GRCm39)	missense	probably benign	0.10
IGL02610:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02612:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02615:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02619:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02621:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02622:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02623:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02624:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
Scrambler	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
warthog	UTSW	9	99,402,538 (GRCm39)	missense	probably benign	0.02
R0321:Armc8	UTSW	9	99,415,230 (GRCm39)	missense	probably damaging	0.99
R0498:Armc8	UTSW	9	99,379,345 (GRCm39)	missense	probably damaging	1.00
R0646:Armc8	UTSW	9	99,387,741 (GRCm39)	missense	probably damaging	1.00
R0658:Armc8	UTSW	9	99,418,211 (GRCm39)	splice site	probably benign
R1061:Armc8	UTSW	9	99,419,784 (GRCm39)	missense	probably damaging	1.00
R1406:Armc8	UTSW	9	99,405,301 (GRCm39)	missense	probably benign	0.37
R1406:Armc8	UTSW	9	99,405,301 (GRCm39)	missense	probably benign	0.37
R1429:Armc8	UTSW	9	99,418,260 (GRCm39)	missense	possibly damaging	0.67
R1432:Armc8	UTSW	9	99,405,185 (GRCm39)	splice site	probably benign
R1538:Armc8	UTSW	9	99,387,343 (GRCm39)	missense	probably damaging	0.96
R1606:Armc8	UTSW	9	99,419,782 (GRCm39)	missense	probably damaging	0.98
R1817:Armc8	UTSW	9	99,418,312 (GRCm39)	missense	possibly damaging	0.67
R1866:Armc8	UTSW	9	99,418,333 (GRCm39)	missense	probably benign
R2015:Armc8	UTSW	9	99,365,158 (GRCm39)	nonsense	probably null
R2143:Armc8	UTSW	9	99,387,361 (GRCm39)	missense	probably damaging	0.99
R2251:Armc8	UTSW	9	99,384,653 (GRCm39)	critical splice acceptor site	probably null
R2842:Armc8	UTSW	9	99,387,734 (GRCm39)	missense	probably benign
R3010:Armc8	UTSW	9	99,369,966 (GRCm39)	missense	probably benign	0.06
R3709:Armc8	UTSW	9	99,402,550 (GRCm39)	missense	probably damaging	1.00
R4440:Armc8	UTSW	9	99,366,087 (GRCm39)	missense	probably benign	0.37
R4865:Armc8	UTSW	9	99,408,942 (GRCm39)	critical splice donor site	probably null
R5492:Armc8	UTSW	9	99,409,184 (GRCm39)	nonsense	probably null
R5606:Armc8	UTSW	9	99,418,315 (GRCm39)	missense	probably benign	0.23
R5639:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5693:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5694:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5698:Armc8	UTSW	9	99,417,873 (GRCm39)	missense	probably benign	0.12
R5700:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5701:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5735:Armc8	UTSW	9	99,379,447 (GRCm39)	critical splice acceptor site	probably null
R6314:Armc8	UTSW	9	99,417,937 (GRCm39)	missense	probably benign	0.28
R7034:Armc8	UTSW	9	99,366,018 (GRCm39)	critical splice donor site	probably null
R7036:Armc8	UTSW	9	99,366,018 (GRCm39)	critical splice donor site	probably null
R7393:Armc8	UTSW	9	99,366,052 (GRCm39)	missense	possibly damaging	0.47
R7395:Armc8	UTSW	9	99,415,185 (GRCm39)	missense	probably damaging	0.99
R7937:Armc8	UTSW	9	99,418,272 (GRCm39)	missense	probably damaging	0.98
R8130:Armc8	UTSW	9	99,433,600 (GRCm39)	missense	probably benign	0.02
R8373:Armc8	UTSW	9	99,409,152 (GRCm39)	missense	probably benign	0.02
R8734:Armc8	UTSW	9	99,402,538 (GRCm39)	missense	probably benign	0.02
R9098:Armc8	UTSW	9	99,387,362 (GRCm39)	nonsense	probably null
R9255:Armc8	UTSW	9	99,379,441 (GRCm39)	missense	possibly damaging	0.95
R9358:Armc8	UTSW	9	99,450,653 (GRCm39)	critical splice donor site	probably null
R9463:Armc8	UTSW	9	99,378,203 (GRCm39)	critical splice donor site	probably null
Z1177:Armc8	UTSW	9	99,379,439 (GRCm39)	missense	probably damaging	0.99

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to A transversion at position 2137 of the Armc8 transcript in exon 20 of 22 total exons. The mutated nucleotide causes a valine to alanine substitution at amino acid 628 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Armc8 gene encodes multiple isoforms of a protein containing 14 Armadillo (ARM) repeats. Isoform 1 contains 673 amino acids (Uniprot Q9DBR3). ARM repeats form helical structures and are protein-protein interacting domains.

The N628K change is located just outside the thirteenth ARM repeat, and is predicted to be benign by the PolyPhen program.

Posted On

2010-08-09