Mutagenetix > Incidental Mutations

Incidental Mutation 'R5939:Armh1'

462419

Institutional Source

Beutler Lab

Gene Symbol

Armh1

Ensembl Gene

ENSMUSG00000060268

Gene Name

armadillo-like helical domain containing 1

Synonyms

LOC381543, LOC381544, Ncrna00082

MMRRC Submission

043243-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117213333-117252125 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117229922 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 182 (Y182C)

Ref Sequence

ENSEMBL: ENSMUSP00000128613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077500] [ENSMUST00000165128]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077500
AA Change: Y182C

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

SMART Domains

Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
AA Change: Y182C

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	156	272	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165128
AA Change: Y182C

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

SMART Domains

Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: Y182C

Domain	Start	End	E-Value	Type
low complexity region	162	176	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,914,122	F225I	probably damaging	Het
Ager	G	T	17: 34,598,201	C38F	probably damaging	Het
Arel1	C	A	12: 84,926,292	R577L	probably damaging	Het
BC005561	T	C	5: 104,519,207	Y532H	possibly damaging	Het
Cabp2	G	T	19: 4,086,470	C172F	possibly damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
D630045J12Rik	A	C	6: 38,194,969	S755A	possibly damaging	Het
Duox1	A	T	2: 122,346,351	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,036,526	F305L	probably benign	Het
Gm10428	A	C	11: 62,753,462		probably benign	Het
Gnal	G	A	18: 67,191,385	V204M	probably damaging	Het
Intu	T	C	3: 40,692,584	V629A	probably damaging	Het
Lrguk	G	T	6: 34,078,753	C435F	probably damaging	Het
Man1c1	C	T	4: 134,565,836	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,508,361	H1779R	probably benign	Het
Neb	T	C	2: 52,257,594	T2776A	probably benign	Het
Nek10	A	T	14: 14,931,290	Y754F	possibly damaging	Het
Nr3c1	A	G	18: 39,420,653	I664T	probably benign	Het
Nrip1	T	C	16: 76,292,122	E849G	probably damaging	Het
Nrros	A	G	16: 32,143,454	F546L	probably benign	Het
Olfr1120	A	C	2: 87,357,704	I87L	possibly damaging	Het
Olfr1167	T	C	2: 88,149,509	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,478,064	T26A	probably benign	Het
Penk	A	G	4: 4,138,010	F45S	probably benign	Het
Ppp2r3a	A	T	9: 101,212,625	N166K	probably benign	Het
Psmb1	A	G	17: 15,498,178	F29L	probably damaging	Het
Rab23	T	C	1: 33,723,909	V20A	probably damaging	Het
Ryr1	C	T	7: 29,116,127	A113T	probably damaging	Het
Ryr2	C	T	13: 11,790,332	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,754,948	N586S	probably benign	Het
Slc9c1	A	G	16: 45,547,668	I207V	probably benign	Het
Spef2	G	A	15: 9,614,215	T1215I	probably benign	Het
Tmc7	C	T	7: 118,545,727	A537T	probably benign	Het
Tmem246	T	A	4: 49,586,412	Q252L	probably damaging	Het
Tmem70	T	C	1: 16,677,391	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,539,827	F642I	probably damaging	Het
Xirp1	T	G	9: 120,018,509	D436A	probably benign	Het

Other mutations in Armh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Armh1	APN	4	117237663	missense	probably benign	0.37
R0350:Armh1	UTSW	4	117215556	nonsense	probably null
R0584:Armh1	UTSW	4	117229850	missense	probably damaging	1.00
R1570:Armh1	UTSW	4	117229992	missense	probably damaging	1.00
R4335:Armh1	UTSW	4	117214463	missense	probably damaging	0.99
R4898:Armh1	UTSW	4	117237780	missense	probably damaging	1.00
R6300:Armh1	UTSW	4	117231782	missense	probably damaging	1.00
R6815:Armh1	UTSW	4	117229937	missense	probably damaging	1.00
R7526:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7529:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7630:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7632:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7659:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7660:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7662:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7663:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7665:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7666:Armh1	UTSW	4	117213741	missense	probably benign	0.02
R7713:Armh1	UTSW	4	117214228	missense	possibly damaging	0.65
R8030:Armh1	UTSW	4	117229987	missense	probably benign	0.31
R8433:Armh1	UTSW	4	117228338	missense	probably benign	0.43
Z1088:Armh1	UTSW	4	117213795	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGGTCTGTGGGAAGCACC -3'
(R):5'- TAAACAAGCTCAGTCGAGATGC -3'

Sequencing Primer
(F):5'- CCGCTGGGAAAGGTAAGACTG -3'
(R):5'- GCTCAGTCGAGATGCTCTTAAAGC -3'

Posted On

2017-02-28