Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Armcx5'

609787

Institutional Source

Beutler Lab

Gene Symbol

Armcx5

Ensembl Gene

ENSMUSG00000072969

Gene Name

armadillo repeat containing, X-linked 5

Synonyms

MMRRC Submission

045949-MU

Accession Numbers

Essential gene?

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

Stock #

R7897 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

134643482-134648071 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA to AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA at 134646453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108772 (fasta)

Gene Model

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

AlphaFold

Q3UZB0

Predicted Effect

probably benign
Transcript: ENSMUST00000096321

SMART Domains

Protein: ENSMUSP00000094045
Gene: ENSMUSG00000072969

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	TGTTGATCCATA	T	2: 69,154,216 (GRCm39)		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,154,217 (GRCm39)		probably benign	Het
Abcc10	T	C	17: 46,634,999 (GRCm39)	T335A	probably benign	Het
Actr3b	T	C	5: 26,036,657 (GRCm39)	Y245H	probably benign	Het
Afm	G	A	5: 90,695,727 (GRCm39)	M411I	probably benign	Het
Ahr	T	C	12: 35,554,169 (GRCm39)	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,311,232 (GRCm39)	R101G	probably benign	Het
Atp13a4	T	C	16: 29,215,284 (GRCm39)	Q1151R		Het
Bcl9	A	G	3: 97,112,567 (GRCm39)	V1296A	possibly damaging	Het
Bsn	A	C	9: 107,989,065 (GRCm39)	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,514,351 (GRCm39)	V529A		Het
Clip1	C	T	5: 123,760,861 (GRCm39)	V767M	probably benign	Het
Col6a5	A	G	9: 105,766,382 (GRCm39)	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,618,656 (GRCm39)	D68E	probably benign	Het
Csmd1	A	T	8: 17,584,935 (GRCm39)	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,968,931 (GRCm39)	I892T	probably benign	Het
Efcab3	A	T	11: 104,889,061 (GRCm39)	Y4159F	probably benign	Het
Elavl3	G	A	9: 21,929,846 (GRCm39)	R353C	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fbxo3	A	G	2: 103,883,757 (GRCm39)	D327G	possibly damaging	Het
Galr1	T	C	18: 82,424,256 (GRCm39)	N7S	probably benign	Het
Glyatl3	T	C	17: 41,215,802 (GRCm39)	T235A	probably damaging	Het
Gm5145	A	C	17: 20,790,967 (GRCm39)	Q115P	probably benign	Het
Grm5	T	C	7: 87,780,069 (GRCm39)	S1202P	probably benign	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Jmjd1c	A	G	10: 67,075,644 (GRCm39)	N1837S	probably damaging	Het
Jph3	A	T	8: 122,516,136 (GRCm39)		probably null	Het
Kcna6	A	G	6: 126,715,761 (GRCm39)	L376P	probably damaging	Het
Kcne3	C	G	7: 99,833,520 (GRCm39)	R46G	probably benign	Het
Kcnq2	T	C	2: 180,722,934 (GRCm39)	D842G	probably damaging	Het
Klhl12	A	T	1: 134,386,219 (GRCm39)	I4F	probably benign	Het
Kpna1	T	A	16: 35,854,235 (GRCm39)	I525N	probably benign	Het
Krtap31-1	T	C	11: 99,798,949 (GRCm39)	C51R	possibly damaging	Het
Ms4a12	C	T	19: 11,207,723 (GRCm39)	G61D	possibly damaging	Het
Nol4	T	C	18: 22,956,400 (GRCm39)	N115D		Het
Nudt16l2	A	C	9: 105,021,709 (GRCm39)	Y112*	probably null	Het
Pcdh15	A	G	10: 74,289,827 (GRCm39)	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,244,202 (GRCm39)	H79L	probably benign	Het
Pdia2	T	C	17: 26,417,207 (GRCm39)	E79G	probably benign	Het
Pgap1	A	T	1: 54,590,167 (GRCm39)	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,741,726 (GRCm39)	T407S	probably benign	Het
Pkd1l2	G	T	8: 117,724,827 (GRCm39)	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,246,816 (GRCm39)	R77*	probably null	Het
Ppfia2	A	G	10: 106,655,399 (GRCm39)	Y322C	probably damaging	Het
Psg23	T	C	7: 18,341,108 (GRCm39)	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,546,484 (GRCm39)	V270A	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Robo2	T	C	16: 73,695,838 (GRCm39)	E1431G	probably benign	Het
Sdk2	A	G	11: 113,764,027 (GRCm39)	I253T	possibly damaging	Het
Sox9	A	C	11: 112,675,635 (GRCm39)	I275L	probably benign	Het
Tlr4	A	G	4: 66,758,058 (GRCm39)	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860 (GRCm39)	D896G	unknown	Het
Usp48	A	T	4: 137,371,739 (GRCm39)	H955L	probably damaging	Het
Vps54	T	C	11: 21,213,307 (GRCm39)	I30T	probably benign	Het
Zfp106	G	A	2: 120,366,096 (GRCm39)	R59*	probably null	Het
Zmym4	A	T	4: 126,783,332 (GRCm39)	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,525,448 (GRCm39)	Y390N	probably damaging	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
R4553:Armcx5	UTSW	X	134,647,256 (GRCm39)	missense	probably damaging	1.00
R8298:Armcx5	UTSW	X	134,646,453 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTCAGATGCTCTGCCTACATC -3'
(R):5'- CTTCTTTAGGCCAGAACCAGG -3'

Sequencing Primer
(F):5'- GTGGTCATTACTGTAACCAAGTCTG -3'
(R):5'- AGGACCCTACACTAGGCTCTTC -3'

Posted On

2019-12-20