Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Armcx2'

276546

Institutional Source

Beutler Lab

Gene Symbol

Armcx2

Ensembl Gene

ENSMUSG00000033436

Gene Name

armadillo repeat containing, X-linked 2

Synonyms

3230401N03Rik

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R3870 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

133704894-133709970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133707048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 195 (V195E)

Ref Sequence

ENSEMBL: ENSMUSP00000127305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035559] [ENSMUST00000113193] [ENSMUST00000119010] [ENSMUST00000168264]

AlphaFold

Q6A058

Predicted Effect

probably benign
Transcript: ENSMUST00000035559
AA Change: V195E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049147
Gene: ENSMUSG00000033436
AA Change: V195E

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113193
AA Change: V195E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108818
Gene: ENSMUSG00000033436
AA Change: V195E

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119010
AA Change: V195E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112507
Gene: ENSMUSG00000033436
AA Change: V195E

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	7.9e-109	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150814

Predicted Effect

probably benign
Transcript: ENSMUST00000168264
AA Change: V195E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127305
Gene: ENSMUSG00000033436
AA Change: V195E

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
low complexity region	91	103	N/A	INTRINSIC
internal_repeat_2	143	179	7.15e-5	PROSPERO
internal_repeat_1	176	196	1.38e-5	PROSPERO
low complexity region	234	249	N/A	INTRINSIC
low complexity region	254	263	N/A	INTRINSIC
low complexity region	275	294	N/A	INTRINSIC
internal_repeat_1	296	316	1.38e-5	PROSPERO
low complexity region	324	354	N/A	INTRINSIC
internal_repeat_2	360	395	7.15e-5	PROSPERO
low complexity region	396	418	N/A	INTRINSIC
low complexity region	431	453	N/A	INTRINSIC
low complexity region	466	485	N/A	INTRINSIC
low complexity region	498	507	N/A	INTRINSIC
Pfam:Arm_2	527	778	4.8e-108	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Glud1	T	A	14: 34,047,537 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Hrh1	A	G	6: 114,457,880 (GRCm39)	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Trim12c	T	C	7: 103,997,544 (GRCm39)	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm39)	S314P	possibly damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably damaging	Het

Other mutations in Armcx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02382:Armcx2	APN	X	133,706,416 (GRCm39)	missense	probably benign	0.00
R0660:Armcx2	UTSW	X	133,706,385 (GRCm39)	missense	possibly damaging	0.95
R0662:Armcx2	UTSW	X	133,706,385 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACAGGAATGTAGACTGCCCC -3'
(R):5'- GGGCTAAAACTGAGGCTAATCTG -3'

Sequencing Primer
(F):5'- ATGTAGACTGCCCCAGGAG -3'
(R):5'- GGAATCAGTAGTCATGCCTTCAGC -3'

Posted On

2015-04-06