Mutagenetix > Incidental Mutation

Incidental Mutation 'P0014:Armh4'

7588

Institutional Source

Beutler Lab

Gene Symbol

Armh4

Ensembl Gene

ENSMUSG00000036242

Gene Name

armadillo-like helical domain containing 4

Synonyms

3632451O06Rik

MMRRC Submission

038267-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

49919017-50020843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49989116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 618 (E618K)

Ref Sequence

ENSEMBL: ENSMUSP00000036220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036972] [ENSMUST00000118129]

AlphaFold

Q8BT18

Predicted Effect

probably damaging
Transcript: ENSMUST00000036972
AA Change: E618K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: E618K

Domain	Start	End	E-Value	Type
Pfam:DUF4696	48	609	3.8e-224	PFAM
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	753	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118129
AA Change: E618K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: E618K

Domain	Start	End	E-Value	Type
coiled coil region	603	644	N/A	INTRINSIC
transmembrane domain	714	736	N/A	INTRINSIC
low complexity region	741	754	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226894

Meta Mutation Damage Score

0.1424

Coding Region Coverage

1x: 85.4%
3x: 80.7%
10x: 66.7%
20x: 50.4%

Validation Efficiency

95% (100/105)

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,000,083 (GRCm39)	Y1017C	probably benign	Het
Acly	T	C	11: 100,375,430 (GRCm39)	I787V	probably benign	Het
Aldob	T	C	4: 49,538,153 (GRCm39)	Q325R	probably benign	Het
Capns2	A	G	8: 93,628,842 (GRCm39)	T244A	probably damaging	Het
Clec16a	C	T	16: 10,378,020 (GRCm39)		probably benign	Het
Creb3	A	G	4: 43,563,265 (GRCm39)	T121A	possibly damaging	Het
Ddah1	A	G	3: 145,558,913 (GRCm39)	D160G	probably benign	Het
Dhx57	A	T	17: 80,582,620 (GRCm39)	H328Q	probably benign	Het
Dmxl2	A	C	9: 54,309,048 (GRCm39)	L1901R	probably damaging	Het
Dnah5	T	A	15: 28,403,619 (GRCm39)	L3448Q	probably damaging	Het
Gcdh	A	G	8: 85,615,154 (GRCm39)		probably null	Het
Lrrc8c	T	C	5: 105,755,110 (GRCm39)	V295A	probably benign	Het
Nek1	A	T	8: 61,524,781 (GRCm39)		probably benign	Het
Pkp2	C	T	16: 16,058,386 (GRCm39)	P356L	probably benign	Het
Sipa1l3	T	C	7: 29,082,640 (GRCm39)	T752A	probably damaging	Het
Slc38a2	C	A	15: 96,588,042 (GRCm39)	W494L	probably damaging	Het
Ttn	T	C	2: 76,628,814 (GRCm39)	D12734G	probably damaging	Het
Uggt2	A	G	14: 119,281,950 (GRCm39)	S742P	probably damaging	Het
Vwa3b	C	T	1: 37,212,995 (GRCm39)		probably benign	Het

Other mutations in Armh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Armh4	APN	14	50,010,460 (GRCm39)	missense	probably damaging	1.00
IGL00981:Armh4	APN	14	50,010,447 (GRCm39)	missense	probably damaging	1.00
IGL01447:Armh4	APN	14	50,005,923 (GRCm39)	missense	probably damaging	0.99
IGL01645:Armh4	APN	14	50,011,011 (GRCm39)	missense	probably damaging	1.00
IGL02135:Armh4	APN	14	50,011,386 (GRCm39)	missense	probably damaging	0.99
IGL02154:Armh4	APN	14	50,010,399 (GRCm39)	missense	possibly damaging	0.58
IGL02163:Armh4	APN	14	50,011,614 (GRCm39)	missense	possibly damaging	0.61
IGL03234:Armh4	APN	14	50,005,973 (GRCm39)	missense	probably damaging	1.00
R0165:Armh4	UTSW	14	50,011,243 (GRCm39)	missense	probably benign
R0240:Armh4	UTSW	14	50,005,859 (GRCm39)	splice site	probably benign
R0553:Armh4	UTSW	14	49,920,143 (GRCm39)	missense	probably damaging	0.99
R0616:Armh4	UTSW	14	50,011,113 (GRCm39)	missense	possibly damaging	0.74
R0635:Armh4	UTSW	14	50,010,600 (GRCm39)	missense	probably benign	0.00
R1423:Armh4	UTSW	14	49,988,896 (GRCm39)	missense	probably damaging	1.00
R1547:Armh4	UTSW	14	50,010,953 (GRCm39)	missense	probably benign	0.01
R1642:Armh4	UTSW	14	50,005,867 (GRCm39)	splice site	probably null
R1657:Armh4	UTSW	14	50,011,017 (GRCm39)	missense	probably damaging	0.99
R1717:Armh4	UTSW	14	49,989,121 (GRCm39)	missense	probably damaging	0.99
R1875:Armh4	UTSW	14	49,919,815 (GRCm39)	missense	probably damaging	1.00
R1900:Armh4	UTSW	14	50,008,040 (GRCm39)	missense	probably damaging	1.00
R1916:Armh4	UTSW	14	50,005,932 (GRCm39)	missense	probably damaging	1.00
R1945:Armh4	UTSW	14	50,005,940 (GRCm39)	missense	probably damaging	1.00
R2102:Armh4	UTSW	14	50,011,459 (GRCm39)	missense	probably damaging	0.98
R2147:Armh4	UTSW	14	49,989,028 (GRCm39)	missense	probably benign	0.31
R2149:Armh4	UTSW	14	49,989,028 (GRCm39)	missense	probably benign	0.31
R3921:Armh4	UTSW	14	50,011,659 (GRCm39)	missense	probably benign	0.13
R4063:Armh4	UTSW	14	50,011,444 (GRCm39)	missense	probably benign	0.02
R4373:Armh4	UTSW	14	50,007,893 (GRCm39)	missense	probably damaging	1.00
R4374:Armh4	UTSW	14	50,007,893 (GRCm39)	missense	probably damaging	1.00
R4377:Armh4	UTSW	14	50,007,893 (GRCm39)	missense	probably damaging	1.00
R4589:Armh4	UTSW	14	50,011,039 (GRCm39)	missense	probably damaging	1.00
R4940:Armh4	UTSW	14	50,010,939 (GRCm39)	missense	probably benign	0.15
R4986:Armh4	UTSW	14	49,989,111 (GRCm39)	missense	probably damaging	0.97
R5047:Armh4	UTSW	14	50,007,895 (GRCm39)	missense	probably damaging	1.00
R5104:Armh4	UTSW	14	50,010,929 (GRCm39)	missense	possibly damaging	0.77
R5682:Armh4	UTSW	14	49,989,043 (GRCm39)	missense	probably damaging	1.00
R6357:Armh4	UTSW	14	50,010,769 (GRCm39)	missense	probably benign	0.10
R6478:Armh4	UTSW	14	50,010,789 (GRCm39)	missense	possibly damaging	0.61
R6673:Armh4	UTSW	14	50,008,049 (GRCm39)	missense	probably benign	0.00
R7035:Armh4	UTSW	14	50,010,507 (GRCm39)	missense	possibly damaging	0.77
R7054:Armh4	UTSW	14	50,011,155 (GRCm39)	missense	probably damaging	1.00
R7458:Armh4	UTSW	14	49,920,196 (GRCm39)	missense	probably damaging	1.00
R7536:Armh4	UTSW	14	50,011,703 (GRCm39)	splice site	probably null
R7944:Armh4	UTSW	14	50,010,670 (GRCm39)	missense	probably benign	0.25
R7945:Armh4	UTSW	14	50,010,670 (GRCm39)	missense	probably benign	0.25
R8049:Armh4	UTSW	14	50,010,993 (GRCm39)	missense	probably damaging	0.97
R8066:Armh4	UTSW	14	50,005,980 (GRCm39)	missense	possibly damaging	0.83
R8519:Armh4	UTSW	14	50,010,693 (GRCm39)	missense	probably damaging	1.00
R8765:Armh4	UTSW	14	49,920,100 (GRCm39)	missense	probably damaging	1.00
R8766:Armh4	UTSW	14	50,011,497 (GRCm39)	missense	probably damaging	1.00
R8833:Armh4	UTSW	14	50,011,318 (GRCm39)	missense	probably benign	0.17
R8936:Armh4	UTSW	14	50,008,024 (GRCm39)	missense	probably damaging	0.98
R9007:Armh4	UTSW	14	50,011,695 (GRCm39)	missense	probably damaging	0.99
R9122:Armh4	UTSW	14	50,011,459 (GRCm39)	missense	possibly damaging	0.64
R9406:Armh4	UTSW	14	50,010,945 (GRCm39)	missense	possibly damaging	0.93
R9741:Armh4	UTSW	14	50,008,081 (GRCm39)	missense	probably benign	0.06
X0026:Armh4	UTSW	14	49,920,193 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-10-05