Mutagenetix > Incidental Mutation

Incidental Mutation 'R0584:Armh1'

56548

Institutional Source

Beutler Lab

Gene Symbol

Armh1

Ensembl Gene

ENSMUSG00000060268

Gene Name

armadillo-like helical domain containing 1

Synonyms

LOC381544, LOC381543, Ncrna00082, Gm1661

MMRRC Submission

038774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117070531-117109322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117087047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 206 (L206Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128613 (fasta)

Gene Model

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

AlphaFold

E9Q963

Predicted Effect

probably damaging
Transcript: ENSMUST00000077500
AA Change: L206Q

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

SMART Domains

Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
AA Change: L206Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165128
AA Change: L206Q

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

SMART Domains

Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: L206Q

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

Meta Mutation Damage Score

0.1429

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,847,564 (GRCm39)	S1745P	probably damaging	Het
Agfg2	G	A	5: 137,665,992 (GRCm39)	T89I	probably damaging	Het
Agtr1a	A	G	13: 30,565,017 (GRCm39)	I27M	probably damaging	Het
Asxl2	A	T	12: 3,546,632 (GRCm39)	E472V	probably damaging	Het
Atp2c2	T	A	8: 120,465,157 (GRCm39)	V313E	probably benign	Het
Casp12	A	G	9: 5,352,268 (GRCm39)	I87V	probably null	Het
Ccl25	C	T	8: 4,404,085 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,263,571 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,078 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,881,315 (GRCm39)	Y2587H	probably damaging	Het
Dppa3	T	C	6: 122,606,951 (GRCm39)	I147T	probably benign	Het
Fam120b	T	C	17: 15,622,384 (GRCm39)	S121P	probably damaging	Het
Fam209	C	T	2: 172,316,081 (GRCm39)	T152M	probably benign	Het
Fam98a	A	G	17: 75,851,772 (GRCm39)	L103P	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fitm1	T	C	14: 55,814,113 (GRCm39)	V203A	probably benign	Het
Gcn1	G	A	5: 115,733,074 (GRCm39)	R1037Q	probably damaging	Het
Gm11563	A	G	11: 99,549,451 (GRCm39)	I101T	unknown	Het
Gpd1l	A	G	9: 114,743,412 (GRCm39)	F163L	probably damaging	Het
Grp	C	A	18: 66,006,766 (GRCm39)	A30E	possibly damaging	Het
H1f7	C	A	15: 98,154,958 (GRCm39)	E64*	probably null	Het
Icosl	T	C	10: 77,907,709 (GRCm39)	Y90H	possibly damaging	Het
Itsn2	A	G	12: 4,747,180 (GRCm39)	T1194A	probably benign	Het
Lrp6	A	G	6: 134,433,039 (GRCm39)	S1431P	probably damaging	Het
Ltbp1	T	C	17: 75,670,467 (GRCm39)	S1503P	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Myh13	G	T	11: 67,251,200 (GRCm39)	E1360*	probably null	Het
Nop58	A	G	1: 59,745,919 (GRCm39)	D400G	probably benign	Het
Or5p79	T	C	7: 108,221,622 (GRCm39)	L201P	probably benign	Het
Or6c205	T	C	10: 129,086,817 (GRCm39)	V138A	probably benign	Het
Oscp1	A	G	4: 125,977,387 (GRCm39)		probably null	Het
Pde9a	A	T	17: 31,678,951 (GRCm39)	Y264F	probably damaging	Het
Pkhd1	T	A	1: 20,309,660 (GRCm39)	K2763*	probably null	Het
Prkci	T	A	3: 31,079,289 (GRCm39)	C42*	probably null	Het
Ptprr	T	C	10: 116,087,063 (GRCm39)	V270A	probably damaging	Het
Rsf1	T	A	7: 97,311,335 (GRCm39)	N688K	possibly damaging	Het
S1pr3	A	T	13: 51,573,697 (GRCm39)	M293L	probably benign	Het
Scn10a	A	C	9: 119,499,597 (GRCm39)	L232R	probably damaging	Het
Sirt5	T	A	13: 43,548,204 (GRCm39)		probably null	Het
Sp6	C	T	11: 96,913,091 (GRCm39)	T268M	probably damaging	Het
Spag5	A	G	11: 78,194,921 (GRCm39)	N76S	possibly damaging	Het
Tecta	T	C	9: 42,259,204 (GRCm39)	N1560D	possibly damaging	Het
Togaram1	T	C	12: 65,014,279 (GRCm39)	L510P	probably damaging	Het
Umps	A	G	16: 33,779,494 (GRCm39)	I401T	probably damaging	Het
Vars2	A	G	17: 35,977,578 (GRCm39)	V118A	possibly damaging	Het

Other mutations in Armh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Armh1	APN	4	117,094,860 (GRCm39)	missense	probably benign	0.37
R0350:Armh1	UTSW	4	117,072,753 (GRCm39)	nonsense	probably null
R1570:Armh1	UTSW	4	117,087,189 (GRCm39)	missense	probably damaging	1.00
R4335:Armh1	UTSW	4	117,071,660 (GRCm39)	missense	probably damaging	0.99
R4898:Armh1	UTSW	4	117,094,977 (GRCm39)	missense	probably damaging	1.00
R5939:Armh1	UTSW	4	117,087,119 (GRCm39)	missense	probably damaging	1.00
R6300:Armh1	UTSW	4	117,088,979 (GRCm39)	missense	probably damaging	1.00
R6815:Armh1	UTSW	4	117,087,134 (GRCm39)	missense	probably damaging	1.00
R7526:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7529:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7630:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7632:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7659:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7660:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7662:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7663:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7665:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7666:Armh1	UTSW	4	117,070,938 (GRCm39)	missense	probably benign	0.02
R7713:Armh1	UTSW	4	117,071,425 (GRCm39)	missense	possibly damaging	0.65
R8030:Armh1	UTSW	4	117,087,184 (GRCm39)	missense	probably benign	0.31
R8433:Armh1	UTSW	4	117,085,535 (GRCm39)	missense	probably benign	0.43
R8693:Armh1	UTSW	4	117,088,960 (GRCm39)	missense	probably damaging	1.00
R8756:Armh1	UTSW	4	117,094,861 (GRCm39)	missense	probably benign
R8832:Armh1	UTSW	4	117,094,867 (GRCm39)	missense	probably damaging	0.97
R8957:Armh1	UTSW	4	117,087,104 (GRCm39)	missense	probably damaging	1.00
R9064:Armh1	UTSW	4	117,094,855 (GRCm39)	missense	probably benign	0.00
Z1088:Armh1	UTSW	4	117,070,992 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGCTTCTCCTGTCAAATGGATGC -3'
(R):5'- CTGGTGAGAAAGACTTTCTACGCCC -3'

Sequencing Primer
(F):5'- ACAAATCACTCTGGCGGG -3'
(R):5'- cacaacacacacacacacac -3'

Posted On

2013-07-11