Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Armc12'

161417

Institutional Source

Beutler Lab

Gene Symbol

Armc12

Ensembl Gene

ENSMUSG00000024223

Gene Name

armadillo repeat containing 12

Synonyms

4930511I11Rik

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28749835-28757949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28756910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 225 (D225G)

Ref Sequence

ENSEMBL: ENSMUSP00000025060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025060]

AlphaFold

Q80X86

Predicted Effect

probably damaging
Transcript: ENSMUST00000025060
AA Change: D225G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025060
Gene: ENSMUSG00000024223
AA Change: D225G

Domain	Start	End	E-Value	Type
low complexity region	20	34	N/A	INTRINSIC
Pfam:Arm_2	64	310	5e-24	PFAM
low complexity region	324	335	N/A	INTRINSIC

Meta Mutation Damage Score

0.6583

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
Abl1	G	T	2: 31,691,822 (GRCm39)	A1114S	probably damaging	Het
Acbd5	T	C	2: 22,989,733 (GRCm39)	V452A	probably damaging	Het
Atad3a	T	A	4: 155,840,139 (GRCm39)	Q121H	probably damaging	Het
Atosa	A	T	9: 74,913,603 (GRCm39)	T79S	probably benign	Het
Bptf	T	A	11: 106,963,873 (GRCm39)	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,448,064 (GRCm39)	I361N	probably damaging	Het
Canx	A	G	11: 50,199,221 (GRCm39)		probably benign	Het
Ccdc127	C	T	13: 74,505,034 (GRCm39)	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,642,465 (GRCm39)	K152E	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,181,204 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,248,853 (GRCm39)	Y1801N	possibly damaging	Het
Crybg1	T	C	10: 43,851,074 (GRCm39)	N1599S	probably benign	Het
Cyc1	T	C	15: 76,228,548 (GRCm39)	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,183,117 (GRCm39)	K484E	probably benign	Het
Ddx60	T	C	8: 62,411,193 (GRCm39)		probably benign	Het
Epg5	T	C	18: 78,005,642 (GRCm39)	S711P	probably damaging	Het
Espl1	A	T	15: 102,214,120 (GRCm39)	Q649L	probably benign	Het
Eya1	G	A	1: 14,374,638 (GRCm39)		probably benign	Het
Fat2	T	A	11: 55,186,913 (GRCm39)	Y1311F	probably damaging	Het
Garin5b	T	A	7: 4,760,687 (GRCm39)	H675L	possibly damaging	Het
Gins4	T	C	8: 23,717,144 (GRCm39)	Y208C	probably damaging	Het
Gsk3b	T	C	16: 37,910,937 (GRCm39)	V17A	probably benign	Het
Gykl1	A	T	18: 52,827,833 (GRCm39)	K347I	probably benign	Het
Helz	T	A	11: 107,483,666 (GRCm39)		probably benign	Het
Hivep3	C	T	4: 119,953,772 (GRCm39)	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,409,093 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,944,987 (GRCm39)		probably benign	Het
Kpna3	C	T	14: 61,620,669 (GRCm39)		probably benign	Het
Mmp15	C	G	8: 96,096,190 (GRCm39)	P327R	probably benign	Het
Mrc1	A	T	2: 14,320,074 (GRCm39)	T1003S	probably benign	Het
Mtss1	T	C	15: 58,819,239 (GRCm39)	D393G	probably benign	Het
Olfm4	T	A	14: 80,258,843 (GRCm39)	Y331N	probably damaging	Het
Or10a49	T	A	7: 108,468,167 (GRCm39)	N65Y	probably damaging	Het
Or4c12b	G	C	2: 89,646,725 (GRCm39)	L12F	probably damaging	Het
P2rx3	G	C	2: 84,855,294 (GRCm39)	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,924,937 (GRCm39)	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,308,155 (GRCm39)		probably null	Het
Pknox1	T	C	17: 31,811,066 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,422,256 (GRCm39)	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 184,980,101 (GRCm39)	A340T	probably damaging	Het
Rnf103	T	A	6: 71,485,983 (GRCm39)	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,530,923 (GRCm39)	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,793 (GRCm39)		probably benign	Het
Sstr4	A	G	2: 148,238,279 (GRCm39)	S297G	probably benign	Het
Timm8a1	C	T	X: 133,438,872 (GRCm39)	E93K	probably benign	Het
Uck1	A	C	2: 32,148,367 (GRCm39)	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,805,300 (GRCm39)		probably benign	Het

Other mutations in Armc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02222:Armc12	APN	17	28,757,694 (GRCm39)	missense	probably damaging	1.00
R0242:Armc12	UTSW	17	28,751,366 (GRCm39)	missense	possibly damaging	0.95
R0242:Armc12	UTSW	17	28,751,366 (GRCm39)	missense	possibly damaging	0.95
R0787:Armc12	UTSW	17	28,757,740 (GRCm39)	missense	probably damaging	1.00
R1800:Armc12	UTSW	17	28,757,869 (GRCm39)	missense	possibly damaging	0.93
R4703:Armc12	UTSW	17	28,751,336 (GRCm39)	missense	probably benign	0.41
R6583:Armc12	UTSW	17	28,757,588 (GRCm39)	missense	probably null	0.89
R7677:Armc12	UTSW	17	28,756,865 (GRCm39)	missense	probably benign	0.00
R8021:Armc12	UTSW	17	28,749,879 (GRCm39)	missense	probably benign	0.00
R8069:Armc12	UTSW	17	28,751,410 (GRCm39)	nonsense	probably null
R8350:Armc12	UTSW	17	28,751,031 (GRCm39)	missense	probably damaging	1.00
R8450:Armc12	UTSW	17	28,751,031 (GRCm39)	missense	probably damaging	1.00
R8552:Armc12	UTSW	17	28,757,675 (GRCm39)	missense	probably benign	0.01
R9229:Armc12	UTSW	17	28,751,345 (GRCm39)	missense	probably benign
R9695:Armc12	UTSW	17	28,749,993 (GRCm39)	missense	probably benign	0.01
R9701:Armc12	UTSW	17	28,751,375 (GRCm39)	missense	probably damaging	1.00
X0022:Armc12	UTSW	17	28,751,419 (GRCm39)	missense	possibly damaging	0.48
Z1088:Armc12	UTSW	17	28,751,033 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TACAGTCAGACTGCATCCTGGCAC -3'
(R):5'- TGCATCACGGTCAAGAGAACACG -3'

Sequencing Primer
(F):5'- TTCAAGTCACCCCTGCTGA -3'
(R):5'- cgggaggcagaggcaag -3'

Posted On

2014-03-14