Mutagenetix > Incidental Mutation

Incidental Mutation 'R4374:Armh4'

325043

Institutional Source

Beutler Lab

Gene Symbol

Armh4

Ensembl Gene

ENSMUSG00000036242

Gene Name

armadillo-like helical domain containing 4

Synonyms

3632451O06Rik

MMRRC Submission

041118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49919017-50020843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50007893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 527 (T527S)

Ref Sequence

ENSEMBL: ENSMUSP00000113609 (fasta)

Gene Model

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

AlphaFold

Q8BT18

Predicted Effect

probably damaging
Transcript: ENSMUST00000036972
AA Change: T527S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036220
Gene: ENSMUSG00000036242
AA Change: T527S

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

probably damaging
Transcript: ENSMUST00000118129
AA Change: T527S

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

SMART Domains

Protein: ENSMUSP00000113609
Gene: ENSMUSG00000036242
AA Change: T527S

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

Meta Mutation Damage Score

0.3186

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	A	G	7: 78,973,278 (GRCm39)	M86V	probably benign	Het
Acin1	C	A	14: 54,891,351 (GRCm39)		probably benign	Het
Aebp2	T	A	6: 140,599,984 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,258,732 (GRCm39)	E452G	probably damaging	Het
Amz1	T	C	5: 140,738,194 (GRCm39)	S184P	possibly damaging	Het
Ccdc83	A	T	7: 89,875,986 (GRCm39)	L295*	probably null	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cpsf7	A	T	19: 10,517,001 (GRCm39)	I368F	probably damaging	Het
Csf1r	G	A	18: 61,252,078 (GRCm39)	C520Y	probably damaging	Het
Dapk1	A	G	13: 60,867,498 (GRCm39)	D235G	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Fktn	T	C	4: 53,720,201 (GRCm39)	S72P	probably damaging	Het
Frem2	C	A	3: 53,452,923 (GRCm39)	V2189F	possibly damaging	Het
Gm10845	G	T	14: 80,100,563 (GRCm39)		noncoding transcript	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lama1	A	G	17: 68,111,513 (GRCm39)	M2255V	probably benign	Het
Lrsam1	G	T	2: 32,845,203 (GRCm39)	T104K	possibly damaging	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Myo7a	G	A	7: 97,751,881 (GRCm39)	T54M	probably damaging	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or5k15	A	C	16: 58,710,242 (GRCm39)	C114G	probably benign	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pfkp	A	G	13: 6,671,025 (GRCm39)	S135P	probably damaging	Het
Phf20l1	C	T	15: 66,476,686 (GRCm39)	T260I	possibly damaging	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Ppp6r2	T	G	15: 89,149,361 (GRCm39)	C216W	probably damaging	Het
Pramel7	C	T	2: 87,320,415 (GRCm39)	A293T	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Setbp1	T	C	18: 78,903,137 (GRCm39)	R177G	probably damaging	Het
Sh2b3	G	T	5: 121,966,549 (GRCm39)		probably benign	Het
Tbc1d30	A	G	10: 121,130,617 (GRCm39)	F271S	probably damaging	Het
Tpo	T	C	12: 30,153,151 (GRCm39)	E401G	possibly damaging	Het
Zdhhc13	T	C	7: 48,458,589 (GRCm39)	Y308H	probably damaging	Het
Zfp112	C	T	7: 23,825,798 (GRCm39)	H589Y	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
P0014:Armh4	UTSW	14	49,989,116 (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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGTAGGGAACATGTGTG -3'
(R):5'- TCTCTGAAAGAGCTGGCTGC -3'

Sequencing Primer
(F):5'- AACATGTGTGTGCTGGTGAAAG -3'
(R):5'- TCCTTTTCAGACATCACTCAAGAG -3'

Posted On

2015-07-06