Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Armc5'

353012

Institutional Source

Beutler Lab

Gene Symbol

Armc5

Ensembl Gene

ENSMUSG00000042178

Gene Name

armadillo repeat containing 5

Synonyms

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127836514-127844272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127837717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 140 (A140E)

Ref Sequence

ENSEMBL: ENSMUSP00000040568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]

AlphaFold

Q5EBP3

Predicted Effect

probably benign
Transcript: ENSMUST00000044660
AA Change: A140E

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178
AA Change: A140E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	62	104	N/A	INTRINSIC
ARM	137	179	2.89e-1	SMART
ARM	180	221	3.32e-1	SMART
ARM	222	263	2.93e-2	SMART
Blast:ARM	265	306	1e-8	BLAST
low complexity region	313	338	N/A	INTRINSIC
ARM	353	399	4.88e0	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	670	690	N/A	INTRINSIC
Pfam:BTB	742	854	9.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078816

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944

Domain	Start	End	E-Value	Type
ZnF_C2H2	88	110	1.89e-1	SMART
ZnF_C2H2	116	138	7.49e-5	SMART
ZnF_C2H2	144	166	1.12e-3	SMART
ZnF_C2H2	172	194	2.4e-3	SMART
ZnF_C2H2	200	222	1.95e-3	SMART
ZnF_C2H2	228	250	3.89e-3	SMART
ZnF_C2H2	256	278	1.1e-2	SMART
ZnF_C2H2	284	306	1.33e-1	SMART
ZnF_C2H2	312	334	2.53e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206509

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with defects in mesoderm formation and gastrulation. The few survbiving mice are smaller than normal. Mice heterozygous for the same allele exhibit abnormal adrenocortical morphology and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	T	2: 113,992,147 (GRCm39)	Y76*	probably null	Het
Auts2	T	C	5: 131,468,476 (GRCm39)	H947R	probably damaging	Het
Bag2	T	C	1: 33,786,074 (GRCm39)	T83A	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	A	G	8: 104,937,799 (GRCm39)	Y126C	probably damaging	Het
Cars1	T	C	7: 143,129,697 (GRCm39)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,122,332 (GRCm39)	I45V	probably benign	Het
Cd320	G	A	17: 34,067,152 (GRCm39)	G214R	probably null	Het
Ckm	G	A	7: 19,153,419 (GRCm39)	V237M	probably damaging	Het
Cplane1	T	C	15: 8,247,939 (GRCm39)	V1496A	probably benign	Het
Cspg4	T	C	9: 56,793,960 (GRCm39)	V565A	possibly damaging	Het
Dnaaf10	T	C	11: 17,182,853 (GRCm39)	V338A	probably benign	Het
Eddm13	T	G	7: 6,261,624 (GRCm39)	I35S	possibly damaging	Het
Ephb6	A	G	6: 41,594,799 (GRCm39)	Y638C	probably damaging	Het
Fat2	G	C	11: 55,187,039 (GRCm39)	S1269*	probably null	Het
Fbxo3	T	C	2: 103,883,820 (GRCm39)	V348A	probably damaging	Het
Gas6	G	A	8: 13,520,254 (GRCm39)	P478L	probably damaging	Het
Herc1	T	C	9: 66,340,660 (GRCm39)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,542,331 (GRCm39)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,439,563 (GRCm39)	C488F	probably benign	Het
Ift172	T	C	5: 31,441,559 (GRCm39)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,625,440 (GRCm39)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,675,863 (GRCm39)	M57I	probably benign	Het
Insyn2a	A	T	7: 134,500,877 (GRCm39)	Y409*	probably null	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,213,715 (GRCm39)	Y237C	unknown	Het
Lats1	G	A	10: 7,588,347 (GRCm39)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,619,079 (GRCm39)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lrriq1	T	C	10: 102,899,273 (GRCm39)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,063,623 (GRCm39)	Y43*	probably null	Het
Mettl25b	A	G	3: 87,835,055 (GRCm39)	S82P	probably damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,588,334 (GRCm39)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,155,066 (GRCm39)	E947G	probably damaging	Het
Nat14	T	A	7: 4,927,446 (GRCm39)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,856,672 (GRCm39)		probably null	Het
Or11g27	A	T	14: 50,771,061 (GRCm39)	Y64F	probably damaging	Het
Or4k15	A	G	14: 50,364,939 (GRCm39)	R302G	probably benign	Het
Or8g19	A	T	9: 39,056,145 (GRCm39)	I250F	probably damaging	Het
Pdcl	T	C	2: 37,245,778 (GRCm39)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,421 (GRCm39)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,860,296 (GRCm39)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,726,340 (GRCm39)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,466,631 (GRCm39)		probably null	Het
Psmb2	T	C	4: 126,571,558 (GRCm39)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,315,677 (GRCm39)	K46*	probably null	Het
Ryr2	T	C	13: 11,764,395 (GRCm39)	H1401R	possibly damaging	Het
Septin4	T	A	11: 87,458,429 (GRCm39)	Y268N	probably damaging	Het
Sh3d19	G	A	3: 86,030,570 (GRCm39)	D696N	probably benign	Het
Slc16a2	T	C	X: 102,751,585 (GRCm39)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,735,106 (GRCm39)	A335T	probably damaging	Het
Slc49a3	T	C	5: 108,590,011 (GRCm39)	M464V	probably benign	Het
Slc6a5	C	A	7: 49,588,146 (GRCm39)	Y493*	probably null	Het
Slf1	A	T	13: 77,274,723 (GRCm39)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,214,376 (GRCm39)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,264,193 (GRCm39)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,488,616 (GRCm39)	T913M	probably damaging	Het
Snx7	T	C	3: 117,594,528 (GRCm39)	T408A	probably benign	Het
Spdya	T	A	17: 71,885,339 (GRCm39)	S264R	probably benign	Het
Spg11	A	T	2: 121,928,580 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,904,350 (GRCm39)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,234,881 (GRCm39)		probably benign	Het
Tenm3	C	A	8: 48,689,005 (GRCm39)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,221,005 (GRCm39)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,240,751 (GRCm39)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,216,337 (GRCm39)	S118T	probably benign	Het
Ttn	C	T	2: 76,569,225 (GRCm39)	V27223I	probably benign	Het
Ttn	T	C	2: 76,606,839 (GRCm39)	T18024A	probably damaging	Het
Vmn2r15	C	T	5: 109,441,940 (GRCm39)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,334,901 (GRCm39)	Y253F	probably benign	Het
Zfand6	C	T	7: 84,267,093 (GRCm39)	R163H	probably benign	Het

Other mutations in Armc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Armc5	APN	7	127,843,255 (GRCm39)	missense	probably benign	0.00
R0538:Armc5	UTSW	7	127,843,463 (GRCm39)	missense	probably damaging	1.00
R0718:Armc5	UTSW	7	127,839,242 (GRCm39)	unclassified	probably benign
R0920:Armc5	UTSW	7	127,839,491 (GRCm39)	missense	probably damaging	1.00
R1922:Armc5	UTSW	7	127,839,677 (GRCm39)	missense	probably benign
R2943:Armc5	UTSW	7	127,839,752 (GRCm39)	missense	probably damaging	1.00
R4679:Armc5	UTSW	7	127,839,276 (GRCm39)	missense	possibly damaging	0.95
R4910:Armc5	UTSW	7	127,839,900 (GRCm39)	missense	possibly damaging	0.67
R5466:Armc5	UTSW	7	127,839,336 (GRCm39)	missense	probably damaging	0.99
R5954:Armc5	UTSW	7	127,841,444 (GRCm39)	missense	probably benign	0.18
R6912:Armc5	UTSW	7	127,839,597 (GRCm39)	missense	probably damaging	1.00
R6940:Armc5	UTSW	7	127,839,470 (GRCm39)	nonsense	probably null
R8410:Armc5	UTSW	7	127,839,323 (GRCm39)	missense	probably damaging	1.00
R8768:Armc5	UTSW	7	127,841,783 (GRCm39)	missense	probably benign	0.07
R8783:Armc5	UTSW	7	127,837,425 (GRCm39)	missense	probably damaging	0.96
Z1177:Armc5	UTSW	7	127,843,835 (GRCm39)	missense	probably damaging	1.00
Z1177:Armc5	UTSW	7	127,840,002 (GRCm39)	missense	probably damaging	0.98
Z1177:Armc5	UTSW	7	127,839,797 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGACTCGCTCTCGTTTTG -3'
(R):5'- CATCACACCTGAGGAGATGAG -3'

Sequencing Primer
(F):5'- CAGAGGGGATTGAGCGCTTC -3'
(R):5'- AGATGAGTGGCGCTGCAC -3'

Posted On

2015-10-08