Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02382:Armcx2'

291419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armcx2

Ensembl Gene

ENSMUSG00000033436

Gene Name

armadillo repeat containing, X-linked 2

Synonyms

3230401N03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL02382

Quality Score

Status

Chromosome

Chromosomal Location

133704894-133709970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133706416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 406 (T406A)

Ref Sequence

ENSEMBL: ENSMUSP00000127305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035559] [ENSMUST00000113193] [ENSMUST00000119010] [ENSMUST00000168264]

AlphaFold

Q6A058

Predicted Effect

probably benign
Transcript: ENSMUST00000035559
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049147
Gene: ENSMUSG00000033436
AA Change: T406A

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113193
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108818
Gene: ENSMUSG00000033436
AA Change: T406A

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119010
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112507
Gene: ENSMUSG00000033436
AA Change: T406A

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	7.9e-109	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150814

Predicted Effect

probably benign
Transcript: ENSMUST00000168264
AA Change: T406A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000127305
Gene: ENSMUSG00000033436
AA Change: T406A

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,315 (GRCm39)		probably null	Het
Aoc2	T	C	11: 101,217,498 (GRCm39)	L527P	probably damaging	Het
Arhgef15	C	A	11: 68,844,856 (GRCm39)	R247L	probably damaging	Het
Armcx5	T	C	X: 134,647,577 (GRCm39)	F551S	probably damaging	Het
Ccrl2	T	C	9: 110,884,947 (GRCm39)	K184E	probably benign	Het
Cenpe	A	G	3: 134,953,147 (GRCm39)	I1534V	probably benign	Het
Cflar	T	A	1: 58,791,840 (GRCm39)	I381K	probably benign	Het
Crb1	T	A	1: 139,165,352 (GRCm39)	N924I	probably damaging	Het
Crebbp	A	G	16: 3,925,934 (GRCm39)	V729A	probably damaging	Het
Dab2	T	A	15: 6,466,468 (GRCm39)	V615D	possibly damaging	Het
Edrf1	T	C	7: 133,252,344 (GRCm39)		probably benign	Het
Ep400	G	A	5: 110,849,594 (GRCm39)	T1409I	unknown	Het
Gm14406	C	A	2: 177,260,988 (GRCm39)		probably benign	Het
Kptn	T	A	7: 15,857,945 (GRCm39)	S258T	probably benign	Het
Mbnl1	G	T	3: 60,532,563 (GRCm39)	E291*	probably null	Het
Mcm4	A	T	16: 15,442,602 (GRCm39)	L843Q	probably damaging	Het
Mgrn1	A	G	16: 4,740,482 (GRCm39)	N274D	probably damaging	Het
Or13a21	T	A	7: 139,999,516 (GRCm39)	T57S	possibly damaging	Het
Or8d1	G	A	9: 38,766,364 (GRCm39)	G2D	probably benign	Het
Phactr4	A	T	4: 132,098,152 (GRCm39)	V335E	probably damaging	Het
Ptgr2	T	C	12: 84,360,722 (GRCm39)	S331P	probably damaging	Het
Ranbp9	T	C	13: 43,589,622 (GRCm39)		probably null	Het
Setd5	A	G	6: 113,120,601 (GRCm39)	T937A	probably benign	Het
Slc27a4	C	T	2: 29,699,855 (GRCm39)	R265C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tenm3	A	G	8: 48,688,511 (GRCm39)	Y2359H	probably damaging	Het
Tnip3	T	C	6: 65,591,779 (GRCm39)		probably null	Het
Zfc3h1	C	T	10: 115,252,781 (GRCm39)	Q1365*	probably null	Het

Other mutations in Armcx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0660:Armcx2	UTSW	X	133,706,385 (GRCm39)	missense	possibly damaging	0.95
R0662:Armcx2	UTSW	X	133,706,385 (GRCm39)	missense	possibly damaging	0.95
R3870:Armcx2	UTSW	X	133,707,048 (GRCm39)	missense	probably benign

Posted On

2015-04-16