Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Armc5'

471054

Institutional Source

Beutler Lab

Gene Symbol

Armc5

Ensembl Gene

ENSMUSG00000042178

Gene Name

armadillo repeat containing 5

Synonyms

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127836514-127844272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127841444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 484 (E484G)

Ref Sequence

ENSEMBL: ENSMUSP00000040568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000070656] [ENSMUST00000078816] [ENSMUST00000164710] [ENSMUST00000167965] [ENSMUST00000169919]

AlphaFold

Q5EBP3

Predicted Effect

probably benign
Transcript: ENSMUST00000044660
AA Change: E484G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178
AA Change: E484G

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: ENSMUST00000070656

SMART Domains

Protein: ENSMUSP00000068529
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	19	183	1.7e-7	PFAM
LIM	210	261	5.18e-22	SMART
LIM	269	320	4.37e-20	SMART
LIM	328	379	3.69e-18	SMART
LIM	387	438	6.89e-18	SMART

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

probably benign
Transcript: ENSMUST00000164710

SMART Domains

Protein: ENSMUSP00000130964
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	28	48	N/A	INTRINSIC
Pfam:Paxillin	49	178	1.4e-10	PFAM
low complexity region	197	209	N/A	INTRINSIC
LIM	249	300	5.18e-22	SMART
LIM	308	359	4.37e-20	SMART
LIM	367	418	3.69e-18	SMART
LIM	426	477	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167965

SMART Domains

Protein: ENSMUSP00000132100
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
Pfam:Paxillin	34	200	7.3e-8	PFAM
LIM	227	278	5.18e-22	SMART
LIM	286	337	4.37e-20	SMART
LIM	345	396	3.69e-18	SMART
LIM	404	455	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168825

SMART Domains

Protein: ENSMUSP00000132685
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	76	92	N/A	INTRINSIC
low complexity region	113	125	N/A	INTRINSIC
LIM	165	216	5.18e-22	SMART
LIM	224	275	4.37e-20	SMART
LIM	283	334	3.69e-18	SMART
LIM	342	393	6.89e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169919

SMART Domains

Protein: ENSMUSP00000131705
Gene: ENSMUSG00000030782

Domain	Start	End	E-Value	Type
low complexity region	24	37	N/A	INTRINSIC
low complexity region	44	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206509

Meta Mutation Damage Score

0.1350

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,617,943 (GRCm39)	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Hsd3b2	T	A	3: 98,618,875 (GRCm39)	I357F	probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,661,436 (GRCm39)		probably benign	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Uncx	C	T	5: 139,533,384 (GRCm39)	S483L	probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het
Zfp790	G	T	7: 29,528,929 (GRCm39)	G538V	probably damaging	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
R4663:Armc5	UTSW	7	127,837,717 (GRCm39)	missense	probably benign	0.14
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
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'- TCTTAAAGGTGTGTAAAGAGCTGTG -3'
(R):5'- AGTCACCAGAGCTCCACTTG -3'

Sequencing Primer
(F):5'- TCACTAGGCTGTCCTGGAAC -3'
(R):5'- AGAGCTCCACTTGGGTCAG -3'

Posted On

2017-03-31