Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Armc8'

204516

Institutional Source

Beutler Lab

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, Gid5, HSPC056

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R1817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99360425-99450952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99418312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 39 (T39A)

Ref Sequence

ENSEMBL: ENSMUSP00000140426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035043] [ENSMUST00000185524] [ENSMUST00000186049]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035043
AA Change: T81A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: T81A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185524
AA Change: T81A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468
AA Change: T81A

Domain	Start	End	E-Value	Type
ARM	50	92	1.75e0	SMART
ARM	94	134	5.34e0	SMART
Blast:ARM	138	176	1e-5	BLAST
ARM	177	217	2.04e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186049
AA Change: T39A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468
AA Change: T39A

Domain	Start	End	E-Value	Type
ARM	8	50	8.5e-3	SMART
ARM	52	92	2.6e-2	SMART
Blast:ARM	96	134	7e-6	BLAST
ARM	135	175	9.8e-2	SMART

Meta Mutation Damage Score

0.1083

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

Allele List at MGI

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

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,144 (GRCm39)	S600T	probably benign	Het
Acly	T	A	11: 100,386,717 (GRCm39)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afg3l1	G	T	8: 124,228,670 (GRCm39)	K745N	probably damaging	Het
Atm	C	A	9: 53,403,533 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,214,890 (GRCm39)	T324A	probably damaging	Het
Btd	C	A	14: 31,384,246 (GRCm39)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,740,668 (GRCm39)		probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccni	G	T	5: 93,335,967 (GRCm39)	T144K	possibly damaging	Het
Ceacam23	C	T	7: 17,607,255 (GRCm39)		noncoding transcript	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cgas	A	G	9: 78,341,593 (GRCm39)		probably null	Het
Cpsf7	T	C	19: 10,512,803 (GRCm39)	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,523,196 (GRCm39)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,271,259 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,585,896 (GRCm39)	Y816*	probably null	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,386,703 (GRCm39)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,838,422 (GRCm39)	T215A	probably benign	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Enox1	A	G	14: 77,852,915 (GRCm39)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,861,250 (GRCm39)	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,179,410 (GRCm39)	P79S	probably benign	Het
Fga	A	G	3: 82,939,082 (GRCm39)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Fnip1	A	G	11: 54,393,279 (GRCm39)	T572A	probably benign	Het
Fxn	A	C	19: 24,257,765 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,175,324 (GRCm39)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,911,594 (GRCm39)	M344T	probably benign	Het
Galnt7	C	T	8: 57,991,212 (GRCm39)	V433M	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Hydin	A	C	8: 111,259,459 (GRCm39)	D2477A	probably benign	Het
Igsf6	T	C	7: 120,670,031 (GRCm39)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kif3a	T	C	11: 53,489,561 (GRCm39)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,845,681 (GRCm39)		probably null	Het
Lcorl	A	T	5: 45,952,688 (GRCm39)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,510,059 (GRCm39)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,055,018 (GRCm39)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,784,918 (GRCm39)	Y261*	probably null	Het
Mical3	T	G	6: 121,019,196 (GRCm39)	T9P	probably benign	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nrap	T	C	19: 56,372,487 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,104,627 (GRCm39)	N289D	probably damaging	Het
Or4k5	A	G	14: 50,385,728 (GRCm39)	V201A	probably benign	Het
Otoa	A	T	7: 120,759,753 (GRCm39)		probably benign	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Parp11	T	A	6: 127,467,008 (GRCm39)	I133N	probably damaging	Het
Pcnx1	A	G	12: 81,965,416 (GRCm39)	T528A	probably benign	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,024,615 (GRCm39)	M468K	probably damaging	Het
Perm1	C	A	4: 156,303,061 (GRCm39)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,575,128 (GRCm39)	A265S	probably benign	Het
Pik3c2a	A	T	7: 115,975,747 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,957,562 (GRCm39)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,246,128 (GRCm39)	D470E	probably benign	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Prune2	A	G	19: 17,099,445 (GRCm39)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,080,462 (GRCm39)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,726,527 (GRCm39)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,576,268 (GRCm39)	V117A	probably damaging	Het
Rnf123	A	G	9: 107,940,125 (GRCm39)	V756A	probably benign	Het
Sez6l2	A	G	7: 126,566,291 (GRCm39)	E741G	probably damaging	Het
Shc3	A	T	13: 51,626,888 (GRCm39)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,155,917 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,140,083 (GRCm39)	K85*	probably null	Het
Taf1b	T	G	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,286,590 (GRCm39)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,102,142 (GRCm39)	M478L	probably benign	Het
Tpr	A	T	1: 150,295,654 (GRCm39)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,581 (GRCm39)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm39)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,307,011 (GRCm39)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,475,372 (GRCm39)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,449,542 (GRCm39)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,788 (GRCm39)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,142,333 (GRCm39)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm39)	V539A	probably benign	Het
Zfp180	G	A	7: 23,804,652 (GRCm39)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,268,042 (GRCm39)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,167,976 (GRCm39)	H517Y	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

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
D4043:Armc8	UTSW	9	99,366,029 (GRCm39)	missense	probably benign	0.13
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACTTCAGGTCTGGGGAC -3'
(R):5'- GGGAGTGTACTTTGCAACTCT -3'

Sequencing Primer
(F):5'- TCACTCTGTAGACCAAGCTGG -3'
(R):5'- ACAGTCTGTTTACTACATCC -3'

Posted On

2014-06-23