Mutagenetix > Incidental Mutations

Incidental Mutation 'R6027:Armc9'

480086

Institutional Source

Beutler Lab

Gene Symbol

Armc9

Ensembl Gene

ENSMUSG00000062590

Gene Name

armadillo repeat containing 9

Synonyms

5730415N24Rik, 3830422A13Rik, 4831423D23Rik, 4930438O05Rik

MMRRC Submission

044199-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R6027 (G1)

Quality Score

112.008

Status

Validated

Chromosome

Chromosomal Location

86154780-86278284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 86244667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 105 (L105F)

Ref Sequence

ENSEMBL: ENSMUSP00000119749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027434] [ENSMUST00000113309] [ENSMUST00000126579] [ENSMUST00000131412] [ENSMUST00000150059] [ENSMUST00000156675]

AlphaFold

Q9D2I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027434
AA Change: L626F

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

SMART Domains

Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: L626F

Domain	Start	End	E-Value	Type
LisH	7	39	1.8e-4	SMART
low complexity region	175	190	N/A	INTRINSIC
coiled coil region	206	242	N/A	INTRINSIC
SCOP:d1jdha_	377	575	8e-14	SMART
low complexity region	793	807	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113309
AA Change: L626F

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

SMART Domains

Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: L626F

Domain	Start	End	E-Value	Type
LisH	7	39	1.8e-4	SMART
low complexity region	175	190	N/A	INTRINSIC
coiled coil region	206	242	N/A	INTRINSIC
SCOP:d1jdha_	377	575	8e-14	SMART
low complexity region	794	808	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123618

Predicted Effect

probably damaging
Transcript: ENSMUST00000126579
AA Change: L34F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131412
AA Change: L626F

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

SMART Domains

Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: L626F

Domain	Start	End	E-Value	Type
LisH	7	39	1.8e-4	SMART
low complexity region	175	190	N/A	INTRINSIC
coiled coil region	206	242	N/A	INTRINSIC
SCOP:d1jdha_	377	575	4e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135973

Predicted Effect

probably damaging
Transcript: ENSMUST00000150059
AA Change: L215F

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

SMART Domains

Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
AA Change: L215F

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	1	168	4e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000156675
AA Change: L105F

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

SMART Domains

Protein: ENSMUSP00000119749
Gene: ENSMUSG00000062590
AA Change: L105F

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	6	100	3e-3	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,398,177	V2299A	probably benign	Het
Acacb	A	G	5: 114,165,600	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879	T763A	possibly damaging	Het
Asah2	T	C	19: 32,044,951	N228D	probably benign	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578		probably null	Het
Csmd2	G	A	4: 128,559,946	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341		probably benign	Het
Dhrs4	A	G	14: 55,486,123	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947		probably null	Het
Efcab6	A	G	15: 83,967,721	F319L	probably benign	Het
Elane	A	T	10: 79,887,018	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597	Y197*	probably null	Het
Eno4	A	G	19: 58,946,830	D158G	probably damaging	Het
Fam217a	T	A	13: 34,910,994	T170S	possibly damaging	Het
Fbxo7	A	G	10: 86,048,086	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611	N194K	possibly damaging	Het
Gm15448	T	C	7: 3,824,639	Y173C	possibly damaging	Het
Gnptab	A	G	10: 88,433,225	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059		probably null	Het
Kif1a	A	T	1: 93,025,643	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290		probably benign	Het
Lypla1	T	C	1: 4,837,076		probably null	Het
Man2b1	C	T	8: 85,096,752	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220	P1716S	possibly damaging	Het
Olfr1085	T	G	2: 86,657,804	Y218S	probably damaging	Het
Olfr157	A	G	4: 43,835,842	V216A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
P2ry6	T	G	7: 100,938,508	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677	I822V	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808		probably benign	Het
Sarm1	T	A	11: 78,483,558	M577L	probably benign	Het
Scin	T	C	12: 40,077,516	Y425C	probably damaging	Het
Serpina12	T	A	12: 104,031,077	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,582,852	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564		probably null	Het
Slc7a1	A	C	5: 148,333,964	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436	D194E	probably benign	Het

Other mutations in Armc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Armc9	APN	1	86198339	missense	probably damaging	1.00
IGL00771:Armc9	APN	1	86199835	splice site	probably null
IGL01689:Armc9	APN	1	86274418	missense	probably benign
IGL02143:Armc9	APN	1	86176865	missense	possibly damaging	0.58
IGL02680:Armc9	APN	1	86252278	missense	probably damaging	1.00
IGL02812:Armc9	APN	1	86244571	missense	probably damaging	0.99
IGL02887:Armc9	APN	1	86164835	missense	probably damaging	1.00
IGL03011:Armc9	APN	1	86199916	critical splice donor site	probably null
IGL03309:Armc9	APN	1	86274433	missense	possibly damaging	0.54
R0184:Armc9	UTSW	1	86198370	missense	probably damaging	1.00
R0440:Armc9	UTSW	1	86194262	splice site	probably null
R0787:Armc9	UTSW	1	86202505	missense	probably damaging	0.99
R0849:Armc9	UTSW	1	86257270	missense	probably benign	0.00
R1687:Armc9	UTSW	1	86156955	start codon destroyed	probably null	1.00
R1962:Armc9	UTSW	1	86207974	missense	probably damaging	1.00
R2176:Armc9	UTSW	1	86199892	missense	probably damaging	1.00
R3418:Armc9	UTSW	1	86194338	missense	probably damaging	1.00
R3419:Armc9	UTSW	1	86194338	missense	probably damaging	1.00
R4079:Armc9	UTSW	1	86213129	intron	probably benign
R4112:Armc9	UTSW	1	86188939	missense	possibly damaging	0.80
R4151:Armc9	UTSW	1	86164775	missense	probably damaging	1.00
R4675:Armc9	UTSW	1	86202518	missense	probably damaging	1.00
R4934:Armc9	UTSW	1	86213079	missense	probably damaging	1.00
R4944:Armc9	UTSW	1	86274534	missense	probably damaging	0.98
R5069:Armc9	UTSW	1	86257237	missense	probably benign	0.03
R5070:Armc9	UTSW	1	86257237	missense	probably benign	0.03
R5071:Armc9	UTSW	1	86186116	missense	probably benign	0.01
R5238:Armc9	UTSW	1	86199847	missense	probably benign	0.01
R5386:Armc9	UTSW	1	86198289	missense	probably null	1.00
R5459:Armc9	UTSW	1	86207972	missense	probably damaging	0.97
R6144:Armc9	UTSW	1	86244579	missense	probably benign	0.06
R7111:Armc9	UTSW	1	86159995	missense	probably damaging	1.00
R7237:Armc9	UTSW	1	86164849	missense	possibly damaging	0.82
R7304:Armc9	UTSW	1	86162715	missense	probably benign
R7452:Armc9	UTSW	1	86213092	missense	possibly damaging	0.87
R7555:Armc9	UTSW	1	86275678	missense	probably damaging	1.00
R7805:Armc9	UTSW	1	86196319	missense	probably damaging	1.00
R8490:Armc9	UTSW	1	86274403	missense	probably benign	0.00
R8513:Armc9	UTSW	1	86162683	missense	probably damaging	1.00
R9378:Armc9	UTSW	1	86262044	missense	probably benign
R9439:Armc9	UTSW	1	86156965	missense	possibly damaging	0.46
Z1177:Armc9	UTSW	1	86176825	missense	probably damaging	0.97
Z1177:Armc9	UTSW	1	86196355	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGGCCTGAGACCTTATTTC -3'
(R):5'- TCCACTTCCGTACATCAGTAGG -3'

Sequencing Primer
(F):5'- GAGACCTTATTTCATGGCAACTGC -3'
(R):5'- AGTAGGTCTATCCATCTCTGACAGG -3'

Posted On

2017-06-26