Mutagenetix > Incidental Mutation

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

4930511I11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

28749835-28757949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28757694 bp (GRCm39)

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]

AlphaFold

Q80X86

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: 71,322,045 (GRCm39)	R1682W	probably benign	Het
Angptl6	A	T	9: 20,785,203 (GRCm39)	M450K	probably damaging	Het
Cd27	T	C	6: 125,211,495 (GRCm39)	H144R	probably damaging	Het
Cenpf	T	C	1: 189,386,641 (GRCm39)	K1880E	probably benign	Het
Dchs1	A	T	7: 105,414,094 (GRCm39)	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116 (GRCm39)	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,485,881 (GRCm39)	D315N	possibly damaging	Het
Fam217a	A	G	13: 35,095,102 (GRCm39)	L128P	probably damaging	Het
Fetub	C	T	16: 22,751,078 (GRCm39)	L62F	probably damaging	Het
Fmn1	A	T	2: 113,423,454 (GRCm39)	I1047F	probably damaging	Het
G2e3	A	G	12: 51,410,016 (GRCm39)	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,338,585 (GRCm39)		probably null	Het
Gm10650	T	C	3: 127,833,789 (GRCm39)		noncoding transcript	Het
Grip1	C	T	10: 119,835,714 (GRCm39)	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,682,152 (GRCm39)	D466A	probably benign	Het
Lrrc63	T	C	14: 75,323,580 (GRCm39)	Y548C	probably damaging	Het
Naaa	T	C	5: 92,407,409 (GRCm39)		probably benign	Het
Parpbp	T	A	10: 87,975,947 (GRCm39)	E55D	possibly damaging	Het
Pnpt1	A	T	11: 29,109,327 (GRCm39)	D691V	possibly damaging	Het
Pnpt1	G	A	11: 29,080,842 (GRCm39)	A29T	probably benign	Het
Pramel11	A	G	4: 143,622,416 (GRCm39)	M313T	possibly damaging	Het
Psg25	T	C	7: 18,263,652 (GRCm39)	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,607,269 (GRCm39)	V168E	probably damaging	Het
Syne2	G	A	12: 75,999,617 (GRCm39)	E2337K	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Tent5b	T	C	4: 133,213,864 (GRCm39)	V245A	probably damaging	Het
Tnfrsf13c	C	A	15: 82,107,364 (GRCm39)	V144L	probably damaging	Het
Uspl1	G	T	5: 149,130,854 (GRCm39)	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,513,449 (GRCm39)	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,659,539 (GRCm39)	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,975,902 (GRCm39)	R503H	possibly damaging	Het

Other mutations in Armc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1428:Armc12	UTSW	17	28,756,910 (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

Posted On

2015-04-16