Mutagenetix > Incidental Mutation

Incidental Mutation 'R4332:Armc10'

323621

Institutional Source

Beutler Lab

Gene Symbol

Armc10

Ensembl Gene

ENSMUSG00000038525

Gene Name

armadillo repeat containing 10

Synonyms

2810037C14Rik

MMRRC Submission

041099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21851004-21867697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21866579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 281 (V281E)

Ref Sequence

ENSEMBL: ENSMUSP00000120269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060899] [ENSMUST00000072896] [ENSMUST00000095495] [ENSMUST00000115217] [ENSMUST00000148873]

AlphaFold

Q9D0L7

Predicted Effect

probably benign
Transcript: ENSMUST00000060899

SMART Domains

Protein: ENSMUSP00000054458
Gene: ENSMUSG00000044968

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
Pfam:Lactamase_B_3	126	343	1.5e-14	PFAM
Pfam:Lactamase_B_2	142	344	2.7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072896
AA Change: V295E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072669
Gene: ENSMUSG00000038525
AA Change: V295E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Arm_2	48	300	2e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095495

SMART Domains

Protein: ENSMUSP00000093149
Gene: ENSMUSG00000038525

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Arm_2	48	234	6.5e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115217

SMART Domains

Protein: ENSMUSP00000110872
Gene: ENSMUSG00000044968

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
Pfam:Lactamase_B_3	126	343	1.3e-13	PFAM
Pfam:Lactamase_B_2	142	344	1.4e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148873
AA Change: V281E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120269
Gene: ENSMUSG00000038525
AA Change: V281E

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Arm_2	38	286	4.7e-113	PFAM

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,356 (GRCm39)	I175T	possibly damaging	Het
A2m	A	G	6: 121,634,406 (GRCm39)	D646G	probably benign	Het
Acat2	T	C	17: 13,181,782 (GRCm39)		probably benign	Het
Best3	T	A	10: 116,838,429 (GRCm39)	F162L	probably benign	Het
Ces1g	T	C	8: 94,046,446 (GRCm39)	M360V	probably benign	Het
Chd7	G	T	4: 8,854,143 (GRCm39)	R1905L	probably damaging	Het
Dhx36	C	T	3: 62,392,412 (GRCm39)	R538Q	probably damaging	Het
Efna2	G	A	10: 80,024,315 (GRCm39)	R161Q	probably damaging	Het
Farsb	T	C	1: 78,445,903 (GRCm39)	T159A	possibly damaging	Het
Fry	C	T	5: 150,305,128 (GRCm39)	A611V	probably damaging	Het
Fsip2	A	G	2: 82,808,201 (GRCm39)	T1507A	probably benign	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm7367	T	C	7: 59,805,364 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,095 (GRCm39)		noncoding transcript	Het
Gmfg	A	T	7: 28,136,997 (GRCm39)	M1L	probably benign	Het
Gpr149	C	A	3: 62,511,794 (GRCm39)	L68F	possibly damaging	Het
Hmga2	T	C	10: 120,200,117 (GRCm39)		probably benign	Het
Il12a	C	A	3: 68,602,594 (GRCm39)		probably benign	Het
Itprid1	G	A	6: 55,945,220 (GRCm39)	G647D	possibly damaging	Het
Itsn2	T	A	12: 4,762,611 (GRCm39)	M1597K	possibly damaging	Het
Kyat3	A	G	3: 142,431,187 (GRCm39)	I154M	probably damaging	Het
Npas3	A	C	12: 54,108,852 (GRCm39)	I419L	probably damaging	Het
Ogfrl1	T	A	1: 23,414,910 (GRCm39)	Y199F	probably damaging	Het
Or14a259	A	C	7: 86,013,080 (GRCm39)	V155G	probably benign	Het
Or5aq7	A	G	2: 86,938,089 (GRCm39)	V214A	possibly damaging	Het
Or6b6	T	C	7: 106,571,354 (GRCm39)	M66V	probably benign	Het
P2rx3	G	A	2: 84,855,205 (GRCm39)	P84S	probably benign	Het
P3h3	A	G	6: 124,819,099 (GRCm39)	V657A	probably damaging	Het
Pabpc2	A	G	18: 39,908,393 (GRCm39)	M553V	probably benign	Het
Pcdhb1	T	C	18: 37,398,583 (GRCm39)	F178S	probably damaging	Het
Plppr4	A	T	3: 117,116,474 (GRCm39)	M403K	probably benign	Het
Ralgapa2	G	A	2: 146,102,288 (GRCm39)	T1956M	probably benign	Het
Rbm12b1	G	T	4: 12,145,655 (GRCm39)	K542N	probably benign	Het
Rdh8	C	T	9: 20,733,925 (GRCm39)	A37V	probably damaging	Het
Rnf213	A	G	11: 119,327,502 (GRCm39)	T1830A	probably damaging	Het
Sardh	G	T	2: 27,105,126 (GRCm39)	Q666K	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	T	G	11: 87,458,730 (GRCm39)	L368R	possibly damaging	Het
Serpinb11	G	A	1: 107,297,294 (GRCm39)		probably null	Het
Slc6a6	G	A	6: 91,700,452 (GRCm39)	G60D	probably damaging	Het
Tfr2	A	G	5: 137,569,996 (GRCm39)	D134G	probably damaging	Het
Tmprss15	T	C	16: 78,831,222 (GRCm39)	T378A	probably benign	Het
Tmprss7	T	G	16: 45,506,690 (GRCm39)	K124T	probably benign	Het
Urb1	A	G	16: 90,571,425 (GRCm39)	L1128P	probably damaging	Het
Usp32	C	T	11: 84,994,804 (GRCm39)	C36Y	possibly damaging	Het
Vmn2r50	T	A	7: 9,786,922 (GRCm39)	T62S	probably benign	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het

Other mutations in Armc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Armc10	APN	5	21,866,579 (GRCm39)	missense	probably damaging	1.00
IGL01647:Armc10	APN	5	21,851,091 (GRCm39)	utr 5 prime	probably benign
IGL02296:Armc10	APN	5	21,865,631 (GRCm39)	missense	probably benign	0.00
R0220:Armc10	UTSW	5	21,866,582 (GRCm39)	missense	probably benign	0.05
R0308:Armc10	UTSW	5	21,852,295 (GRCm39)	intron	probably benign
R1757:Armc10	UTSW	5	21,858,455 (GRCm39)	missense	probably damaging	1.00
R4486:Armc10	UTSW	5	21,858,432 (GRCm39)	missense	probably damaging	1.00
R4656:Armc10	UTSW	5	21,866,548 (GRCm39)	missense	probably benign	0.11
R4741:Armc10	UTSW	5	21,856,834 (GRCm39)	missense	probably damaging	1.00
R4906:Armc10	UTSW	5	21,866,522 (GRCm39)	missense	probably damaging	1.00
R5273:Armc10	UTSW	5	21,858,426 (GRCm39)	missense	possibly damaging	0.89
R5988:Armc10	UTSW	5	21,865,581 (GRCm39)	missense	probably damaging	1.00
R7088:Armc10	UTSW	5	21,858,390 (GRCm39)	missense	probably damaging	0.96
R7212:Armc10	UTSW	5	21,865,581 (GRCm39)	missense	probably damaging	1.00
R8063:Armc10	UTSW	5	21,853,768 (GRCm39)	critical splice donor site	probably null
R8715:Armc10	UTSW	5	21,858,516 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGAGATTCTTCTTCGGGCTC -3'
(R):5'- ATCCACATCCTCGGAAGGTTC -3'

Sequencing Primer
(F):5'- CGGGCTCTTACACTGTTTCAG -3'
(R):5'- GAAGGTTCCAGACTCTACTCAATC -3'

Posted On

2015-06-24