Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02222:Armc12'

285179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armc12

Ensembl Gene

ENSMUSG00000024223

Gene Name

armadillo repeat containing 12

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

28530860-28538954 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28538720 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 275 (N275K)

Ref Sequence

ENSEMBL: ENSMUSP00000025060 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025060
AA Change: N275K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025060
Gene: ENSMUSG00000024223
AA Change: N275K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,282,886	R1682W	probably benign	Het
Angptl6	A	T	9: 20,873,907	M450K	probably damaging	Het
Cd27	T	C	6: 125,234,532	H144R	probably damaging	Het
Cenpf	T	C	1: 189,654,444	K1880E	probably benign	Het
Dchs1	A	T	7: 105,764,887	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,592,088	D315N	possibly damaging	Het
Fam217a	A	G	13: 34,911,119	L128P	probably damaging	Het
Fam46b	T	C	4: 133,486,553	V245A	probably damaging	Het
Fetub	C	T	16: 22,932,328	L62F	probably damaging	Het
Fmn1	A	T	2: 113,593,109	I1047F	probably damaging	Het
G2e3	A	G	12: 51,363,233	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,410,863		probably null	Het
Gm10650	T	C	3: 128,040,140		noncoding transcript	Het
Grip1	C	T	10: 119,999,809	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,806,401	D466A	probably benign	Het
Lrrc63	T	C	14: 75,086,140	Y548C	probably damaging	Het
Naaa	T	C	5: 92,259,550		probably benign	Het
Parpbp	T	A	10: 88,140,085	E55D	possibly damaging	Het
Pnpt1	G	A	11: 29,130,842	A29T	probably benign	Het
Pnpt1	A	T	11: 29,159,327	D691V	possibly damaging	Het
Pramef6	A	G	4: 143,895,846	M313T	possibly damaging	Het
Psg25	T	C	7: 18,529,727	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,699,962	V168E	probably damaging	Het
Syne2	G	A	12: 75,952,843	E2337K	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Tnfrsf13c	C	A	15: 82,223,163	V144L	probably damaging	Het
Uspl1	G	T	5: 149,194,044	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,864,025	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,682,175	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,828,043	R503H	possibly damaging	Het

Other mutations in Armc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0242:Armc12	UTSW	17	28532392	missense	possibly damaging	0.95
R0242:Armc12	UTSW	17	28532392	missense	possibly damaging	0.95
R0787:Armc12	UTSW	17	28538766	missense	probably damaging	1.00
R1428:Armc12	UTSW	17	28537936	missense	probably damaging	1.00
R1800:Armc12	UTSW	17	28538895	missense	possibly damaging	0.93
R4703:Armc12	UTSW	17	28532362	missense	probably benign	0.41
R6583:Armc12	UTSW	17	28538614	missense	probably null	0.89
R7677:Armc12	UTSW	17	28537891	missense	probably benign	0.00
X0022:Armc12	UTSW	17	28532445	missense	possibly damaging	0.48
Z1088:Armc12	UTSW	17	28532059	missense	probably benign	0.27

Posted On

2015-04-16