Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02382:Armcx5'

291422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armcx5

Ensembl Gene

ENSMUSG00000072969

Gene Name

armadillo repeat containing, X-linked 5

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02382

Quality Score

Status

Chromosome

Chromosomal Location

134643482-134648071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134647577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 551 (F551S)

Ref Sequence

ENSEMBL: ENSMUSP00000094045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096321] [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147]

AlphaFold

Q3UZB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000096321
AA Change: F551S

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

SMART Domains

Protein: ENSMUSP00000094045
Gene: ENSMUSG00000072969
AA Change: F551S

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
Pfam:Arm_2	347	600	2e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113144

SMART Domains

Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
internal_repeat_1	149	555	1.92e-17	PROSPERO
internal_repeat_2	259	559	1.83e-16	PROSPERO
internal_repeat_2	578	912	1.83e-16	PROSPERO
internal_repeat_1	584	970	1.92e-17	PROSPERO
low complexity region	1053	1064	N/A	INTRINSIC
Pfam:Arm_2	1092	1339	1.3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113145

SMART Domains

Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
internal_repeat_1	149	555	1.92e-17	PROSPERO
internal_repeat_2	259	559	1.83e-16	PROSPERO
internal_repeat_2	578	912	1.83e-16	PROSPERO
internal_repeat_1	584	970	1.92e-17	PROSPERO
low complexity region	1053	1064	N/A	INTRINSIC
Pfam:Arm_2	1092	1339	2.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113147

SMART Domains

Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
internal_repeat_1	149	555	1.92e-17	PROSPERO
internal_repeat_2	259	559	1.83e-16	PROSPERO
internal_repeat_2	578	912	1.83e-16	PROSPERO
internal_repeat_1	584	970	1.92e-17	PROSPERO
low complexity region	1053	1064	N/A	INTRINSIC
Pfam:Arm_2	1092	1339	2.7e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196502

Coding Region Coverage

Validation Efficiency

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
Armcx2	T	C	X: 133,706,416 (GRCm39)	T406A	probably benign	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 Armcx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Armcx5	APN	X	134,647,112 (GRCm39)	missense	probably damaging	1.00
IGL02596:Armcx5	APN	X	134,647,268 (GRCm39)	missense	probably damaging	1.00
R0614:Armcx5	UTSW	X	134,647,564 (GRCm39)	missense	probably damaging	1.00
R4551:Armcx5	UTSW	X	134,647,256 (GRCm39)	missense	probably damaging	1.00
R4553:Armcx5	UTSW	X	134,647,256 (GRCm39)	missense	probably damaging	1.00
R7897:Armcx5	UTSW	X	134,646,453 (GRCm39)	intron	probably benign
R8298:Armcx5	UTSW	X	134,646,453 (GRCm39)	intron	probably benign

Posted On

2015-04-16