Mutagenetix > Incidental Mutation

Incidental Mutation 'R4553:Armcx5'

341797

Institutional Source

Beutler Lab

Gene Symbol

Armcx5

Ensembl Gene

ENSMUSG00000072969

Gene Name

armadillo repeat containing, X-linked 5

Synonyms

MMRRC Submission

041595-MU

Accession Numbers

Essential gene?

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

Stock #

R4553 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

134643482-134648071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134647256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 444 (V444D)

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: V444D

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

SMART Domains

Protein: ENSMUSP00000094045
Gene: ENSMUSG00000072969
AA Change: V444D

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

Meta Mutation Damage Score

0.8083

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	T	C	5: 114,951,254 (GRCm39)	Y49C	probably damaging	Het
Adat1	T	C	8: 112,716,912 (GRCm39)	T32A	probably damaging	Het
Adra2a	T	C	19: 54,035,166 (GRCm39)	V174A	possibly damaging	Het
Cand2	C	A	6: 115,769,172 (GRCm39)	R661S	probably damaging	Het
Cd274	T	C	19: 29,357,848 (GRCm39)	V180A	probably benign	Het
Crat	T	C	2: 30,298,229 (GRCm39)	T157A	probably benign	Het
Cts6	G	A	13: 61,345,407 (GRCm39)	P230L	probably damaging	Het
Dppa2	A	G	16: 48,130,877 (GRCm39)	Y3C	possibly damaging	Het
Epgn	A	T	5: 91,175,421 (GRCm39)	K14*	probably null	Het
Garin1a	A	G	6: 29,287,705 (GRCm39)	I210M	probably benign	Het
Gsap	A	T	5: 21,495,569 (GRCm39)	D79V	probably damaging	Het
Hgfac	T	A	5: 35,200,200 (GRCm39)	C130S	probably damaging	Het
Ifi35	T	C	11: 101,348,717 (GRCm39)	V188A	probably damaging	Het
Iqsec2	A	G	X: 150,994,277 (GRCm39)	H585R	probably benign	Het
Itih4	T	C	14: 30,622,910 (GRCm39)	L842P	probably damaging	Het
Kif3a	C	A	11: 53,469,745 (GRCm39)	L119I	possibly damaging	Het
Lrp2	T	C	2: 69,343,629 (GRCm39)	D910G	probably benign	Het
Lyve1	T	C	7: 110,451,567 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,465,137 (GRCm39)	T464A	probably damaging	Het
Mx2	A	G	16: 97,353,205 (GRCm39)	T398A	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,404 (GRCm39)	M297T	probably benign	Het
Nog	A	G	11: 89,192,248 (GRCm39)	L200P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Papolb	T	C	5: 142,514,933 (GRCm39)	I237V	probably benign	Het
Phf11b	G	A	14: 59,578,734 (GRCm39)	P11S	probably benign	Het
Plcb1	T	C	2: 135,177,413 (GRCm39)	S582P	probably benign	Het
Pld1	G	T	3: 28,178,851 (GRCm39)	R915L	probably benign	Het
Sell	C	T	1: 163,899,685 (GRCm39)	T34I	probably benign	Het
Slc34a1	G	A	13: 55,559,874 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,667,663 (GRCm39)	V432A	probably damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,517 (GRCm39)	F177Y	probably damaging	Het
Xab2	T	C	8: 3,661,015 (GRCm39)	T700A	probably benign	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
IGL02382:Armcx5	APN	X	134,647,577 (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
R7897:Armcx5	UTSW	X	134,646,453 (GRCm39)	intron	probably benign
R8298:Armcx5	UTSW	X	134,646,453 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGGATCAGTCCTGCTTAC -3'
(R):5'- ACTTCAGCACTGATCAGTTCTC -3'

Sequencing Primer
(F):5'- CCCATTTACTCAAGATATTGTTCACG -3'
(R):5'- TTTTGACAAGCACAAAAGGACTC -3'

Posted On

2015-09-24