Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Armcx1'

275008

Institutional Source

Beutler Lab

Gene Symbol

Armcx1

Ensembl Gene

ENSMUSG00000033460

Gene Name

armadillo repeat containing, X-linked 1

Synonyms

3010033I09Rik

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3807 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

133618712-133622666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133622014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 372 (V372A)

Ref Sequence

ENSEMBL: ENSMUSP00000108826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035748] [ENSMUST00000051256] [ENSMUST00000113197] [ENSMUST00000113198] [ENSMUST00000113199] [ENSMUST00000113201]

AlphaFold

Q9CX83

Predicted Effect

probably damaging
Transcript: ENSMUST00000035748
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043965
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	7.7e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000051256
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053909
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	7.7e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113197
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108822
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	7.7e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113198
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108823
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	7.7e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113199
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108824
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	7.7e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113201
AA Change: V372A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108826
Gene: ENSMUSG00000033460
AA Change: V372A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	31	60	N/A	INTRINSIC
low complexity region	143	163	N/A	INTRINSIC
low complexity region	173	182	N/A	INTRINSIC
Pfam:Arm_2	197	450	1.4e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129697

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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 ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 112,717,002 (GRCm39)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,034 (GRCm39)	I563T	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,055,922 (GRCm39)	N329K	probably benign	Het
Ccdc113	A	T	8: 96,269,281 (GRCm39)	N193I	probably damaging	Het
Cebpz	A	T	17: 79,242,847 (GRCm39)	L269Q	probably damaging	Het
Cttn	C	T	7: 143,999,588 (GRCm39)	V290M	probably damaging	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dmbt1	T	A	7: 130,713,819 (GRCm39)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,541,418 (GRCm39)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,713,979 (GRCm39)		probably null	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Erich1	T	C	8: 14,083,695 (GRCm39)	N125S	probably benign	Het
Fam149a	T	A	8: 45,834,647 (GRCm39)	T51S	possibly damaging	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Frem2	A	T	3: 53,560,870 (GRCm39)	D1212E	probably benign	Het
Garin3	G	A	11: 46,295,780 (GRCm39)	A51T	possibly damaging	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,663,380 (GRCm39)	R100H	unknown	Het
Gria1	T	C	11: 57,201,504 (GRCm39)	W712R	probably damaging	Het
Herc2	A	G	7: 55,857,557 (GRCm39)	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,890,116 (GRCm39)	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,066,661 (GRCm39)		probably null	Het
Lrrc56	A	G	7: 140,789,298 (GRCm39)	T393A	probably benign	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Med14	T	C	X: 12,553,416 (GRCm39)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,515,599 (GRCm39)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,434,357 (GRCm39)	R306*	probably null	Het
Nolc1	CAG	CAGAAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,810 (GRCm39)		probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,366,033 (GRCm39)	V586E	probably damaging	Het
Or2d2b	A	G	7: 106,705,670 (GRCm39)	S133P	probably benign	Het
Or5h24	A	C	16: 58,919,206 (GRCm39)	*50G	probably null	Het
Pcdhb4	T	C	18: 37,442,367 (GRCm39)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Psme4	T	A	11: 30,806,027 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rgs11	A	T	17: 26,422,474 (GRCm39)	I69F	probably damaging	Het
Ryr1	C	T	7: 28,719,577 (GRCm39)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,826,537 (GRCm39)	V1359I	probably benign	Het
Sis	A	T	3: 72,832,929 (GRCm39)	V956E	probably benign	Het
Slc35f3	T	A	8: 127,115,978 (GRCm39)	W302R	probably damaging	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Tdp2	C	A	13: 25,015,776 (GRCm39)	S21*	probably null	Het
Tfrc	A	T	16: 32,435,644 (GRCm39)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,864,644 (GRCm39)	I917F	probably damaging	Het
Vbp1	T	C	X: 74,566,948 (GRCm39)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,723,114 (GRCm39)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,367,715 (GRCm39)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,903,241 (GRCm39)	K1057E	possibly damaging	Het

Predicted Primers

PCR Primer
(F):5'- GCTGGATTAAGACTCCTTACCAAC -3'
(R):5'- CACCAGATCCTTATGGCTTGC -3'

Sequencing Primer
(F):5'- TTAAGACTCCTTACCAACATGACTG -3'
(R):5'- ACCAGATCCTTATGGCTTGCTAATG -3'

Posted On

2015-04-02