Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Armc9'

216931

Institutional Source

Beutler Lab

Gene Symbol

Armc9

Ensembl Gene

ENSMUSG00000062590

Gene Name

armadillo repeat containing 9

Synonyms

4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

R1962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86082502-86206006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86135696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 551 (C551S)

Ref Sequence

ENSEMBL: ENSMUSP00000117267 (fasta)

Gene Model

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

AlphaFold

Q9D2I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027434
AA Change: C551S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: C551S

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: C551S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: C551S

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: ENSMUST00000131412
AA Change: C551S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: C551S

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 benign
Transcript: ENSMUST00000150059
AA Change: C123S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
AA Change: C123S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155168

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156675
AA Change: C31S

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119749
Gene: ENSMUSG00000062590
AA Change: C31S

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,940,468 (GRCm39)	I354M	probably damaging	Het
Abca8a	T	C	11: 109,917,731 (GRCm39)		probably null	Het
Abca8b	T	C	11: 109,870,724 (GRCm39)	R143G	probably benign	Het
Actn4	T	C	7: 28,594,047 (GRCm39)	D840G	probably damaging	Het
Agpat5	T	C	8: 18,928,026 (GRCm39)	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,512,983 (GRCm39)	V93A	probably benign	Het
Arap2	T	C	5: 62,834,007 (GRCm39)	K820R	possibly damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Brms1	C	T	19: 5,096,027 (GRCm39)	R34W	probably damaging	Het
Cbx2	A	G	11: 118,919,395 (GRCm39)	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,196,988 (GRCm39)	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,356,885 (GRCm39)	V47E	probably damaging	Het
Cep170b	C	T	12: 112,704,495 (GRCm39)	S751L	probably damaging	Het
Cfap46	A	T	7: 139,246,957 (GRCm39)	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,239,679 (GRCm39)	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Dchs1	A	G	7: 105,413,408 (GRCm39)	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,725,060 (GRCm39)	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,281,263 (GRCm39)	K2775E	possibly damaging	Het
Dst	C	A	1: 34,230,097 (GRCm39)	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,127,853 (GRCm39)		probably null	Het
Dusp16	G	T	6: 134,695,099 (GRCm39)	Y577*	probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eml5	A	G	12: 98,842,570 (GRCm39)	F176S	probably damaging	Het
Esco2	C	A	14: 66,068,982 (GRCm39)	R109S	probably damaging	Het
Galnt7	C	T	8: 57,985,748 (GRCm39)	E541K	probably benign	Het
Gbf1	C	T	19: 46,255,658 (GRCm39)	T707I	probably damaging	Het
Gdf5	A	G	2: 155,783,672 (GRCm39)	C427R	probably damaging	Het
Glyctk	T	C	9: 106,035,064 (GRCm39)	M1V	probably null	Het
Gm5478	T	C	15: 101,552,830 (GRCm39)	E367G	probably damaging	Het
Golga7b	G	A	19: 42,251,768 (GRCm39)	V5I	probably benign	Het
Gpt2	T	C	8: 86,219,764 (GRCm39)	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,730,315 (GRCm39)	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,194,918 (GRCm39)	E160G	probably benign	Het
Ift81	A	T	5: 122,698,772 (GRCm39)	Y532N	probably benign	Het
Igf1	G	A	10: 87,700,726 (GRCm39)	C66Y	probably damaging	Het
Igf1r	T	C	7: 67,857,023 (GRCm39)	V995A	probably damaging	Het
Ip6k1	T	C	9: 107,918,287 (GRCm39)		probably null	Het
Jaml	T	C	9: 45,015,495 (GRCm39)	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,225,253 (GRCm39)		probably benign	Het
Kdm6b	T	C	11: 69,292,191 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,599,900 (GRCm39)	R404H	probably damaging	Het
Larp4b	C	A	13: 9,186,878 (GRCm39)	H69N	probably benign	Het
Lcat	A	T	8: 106,668,355 (GRCm39)	W222R	probably damaging	Het
Lrrc40	T	A	3: 157,746,086 (GRCm39)	C54S	probably benign	Het
Mcpt9	T	A	14: 56,265,024 (GRCm39)	H159L	probably benign	Het
Megf8	T	C	7: 25,062,976 (GRCm39)	V2444A	probably damaging	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mical2	A	T	7: 112,012,051 (GRCm39)	I634L	probably benign	Het
Mov10	C	T	3: 104,704,293 (GRCm39)	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,384,688 (GRCm39)	L546Q	probably damaging	Het
Myo6	T	C	9: 80,168,117 (GRCm39)	V427A	probably damaging	Het
Myom2	T	A	8: 15,182,599 (GRCm39)		probably null	Het
Mzt2	G	A	16: 15,666,543 (GRCm39)	R125C	probably damaging	Het
Neb	T	A	2: 52,162,949 (GRCm39)	R2031*	probably null	Het
Nphp3	T	C	9: 103,898,537 (GRCm39)	S447P	probably benign	Het
Nrp2	T	A	1: 62,758,090 (GRCm39)	D25E	probably benign	Het
Nts	A	G	10: 102,320,918 (GRCm39)	L57S	probably damaging	Het
Nudt9	G	A	5: 104,212,971 (GRCm39)	R348H	probably benign	Het
Or10d5j	T	C	9: 39,867,979 (GRCm39)	Y84C	probably benign	Het
Or13a1	C	T	6: 116,470,725 (GRCm39)	P52S	probably benign	Het
Or3a1b	C	A	11: 74,012,650 (GRCm39)	D178E	probably benign	Het
Or4k49	T	C	2: 111,495,234 (GRCm39)	I221T	probably damaging	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Pafah1b1	T	C	11: 74,590,177 (GRCm39)		probably benign	Het
Piezo2	C	A	18: 63,211,911 (GRCm39)	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,498,016 (GRCm39)	F486S	probably benign	Het
Podnl1	C	T	8: 84,853,926 (GRCm39)	H99Y	probably benign	Het
Prdm6	A	T	18: 53,701,233 (GRCm39)	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,588,854 (GRCm39)		probably null	Het
Psmd4	G	T	3: 94,944,012 (GRCm39)	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,667 (GRCm39)	T242M	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scfd1	T	C	12: 51,469,769 (GRCm39)	V438A	probably benign	Het
Scn9a	A	G	2: 66,314,655 (GRCm39)	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Shank1	T	A	7: 43,993,747 (GRCm39)		probably null	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Sncaip	C	T	18: 53,004,434 (GRCm39)	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,593,057 (GRCm39)	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,692,672 (GRCm39)	R575S	probably benign	Het
Syt9	T	A	7: 107,024,314 (GRCm39)	V69D	probably damaging	Het
Tanc2	A	G	11: 105,689,558 (GRCm39)	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,130,727 (GRCm39)	L70S	probably benign	Het
Tmem44	C	T	16: 30,362,219 (GRCm39)		probably null	Het
Tor1b	A	G	2: 30,846,931 (GRCm39)	R293G	probably benign	Het
Trim29	T	C	9: 43,222,615 (GRCm39)	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378 (GRCm39)	Y271*	probably null	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Ubqln5	T	C	7: 103,778,134 (GRCm39)	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,402,193 (GRCm39)	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,570,827 (GRCm39)	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,774,185 (GRCm39)	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,200,793 (GRCm39)	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,398,369 (GRCm39)	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,285,595 (GRCm39)	Y138*	probably null	Het
Vmn2r-ps158	T	C	7: 42,696,824 (GRCm39)	V620A	probably benign	Het
Xrra1	A	C	7: 99,560,227 (GRCm39)	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,242,362 (GRCm39)	C688*	probably null	Het
Zfp3	T	A	11: 70,662,954 (GRCm39)	Y304*	probably null	Het
Zfp407	A	T	18: 84,577,461 (GRCm39)	D1217E	probably benign	Het
Zfp658	T	C	7: 43,223,245 (GRCm39)	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,659,252 (GRCm39)	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,796,463 (GRCm39)	K820N	possibly damaging	Het

Other mutations in Armc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Armc9	APN	1	86,126,061 (GRCm39)	missense	probably damaging	1.00
IGL00771:Armc9	APN	1	86,127,557 (GRCm39)	splice site	probably null
IGL01689:Armc9	APN	1	86,202,140 (GRCm39)	missense	probably benign
IGL02143:Armc9	APN	1	86,104,587 (GRCm39)	missense	possibly damaging	0.58
IGL02680:Armc9	APN	1	86,180,000 (GRCm39)	missense	probably damaging	1.00
IGL02812:Armc9	APN	1	86,172,293 (GRCm39)	missense	probably damaging	0.99
IGL02887:Armc9	APN	1	86,092,557 (GRCm39)	missense	probably damaging	1.00
IGL03011:Armc9	APN	1	86,127,638 (GRCm39)	critical splice donor site	probably null
IGL03309:Armc9	APN	1	86,202,155 (GRCm39)	missense	possibly damaging	0.54
R0184:Armc9	UTSW	1	86,126,092 (GRCm39)	missense	probably damaging	1.00
R0440:Armc9	UTSW	1	86,121,984 (GRCm39)	splice site	probably null
R0787:Armc9	UTSW	1	86,130,227 (GRCm39)	missense	probably damaging	0.99
R0849:Armc9	UTSW	1	86,184,992 (GRCm39)	missense	probably benign	0.00
R1687:Armc9	UTSW	1	86,084,677 (GRCm39)	start codon destroyed	probably null	1.00
R2176:Armc9	UTSW	1	86,127,614 (GRCm39)	missense	probably damaging	1.00
R3418:Armc9	UTSW	1	86,122,060 (GRCm39)	missense	probably damaging	1.00
R3419:Armc9	UTSW	1	86,122,060 (GRCm39)	missense	probably damaging	1.00
R4079:Armc9	UTSW	1	86,140,851 (GRCm39)	intron	probably benign
R4112:Armc9	UTSW	1	86,116,661 (GRCm39)	missense	possibly damaging	0.80
R4151:Armc9	UTSW	1	86,092,497 (GRCm39)	missense	probably damaging	1.00
R4675:Armc9	UTSW	1	86,130,240 (GRCm39)	missense	probably damaging	1.00
R4934:Armc9	UTSW	1	86,140,801 (GRCm39)	missense	probably damaging	1.00
R4944:Armc9	UTSW	1	86,202,256 (GRCm39)	missense	probably damaging	0.98
R5069:Armc9	UTSW	1	86,184,959 (GRCm39)	missense	probably benign	0.03
R5070:Armc9	UTSW	1	86,184,959 (GRCm39)	missense	probably benign	0.03
R5071:Armc9	UTSW	1	86,113,838 (GRCm39)	missense	probably benign	0.01
R5238:Armc9	UTSW	1	86,127,569 (GRCm39)	missense	probably benign	0.01
R5386:Armc9	UTSW	1	86,126,011 (GRCm39)	missense	probably null	1.00
R5459:Armc9	UTSW	1	86,135,694 (GRCm39)	missense	probably damaging	0.97
R6027:Armc9	UTSW	1	86,172,389 (GRCm39)	missense	probably damaging	1.00
R6144:Armc9	UTSW	1	86,172,301 (GRCm39)	missense	probably benign	0.06
R7111:Armc9	UTSW	1	86,087,717 (GRCm39)	missense	probably damaging	1.00
R7237:Armc9	UTSW	1	86,092,571 (GRCm39)	missense	possibly damaging	0.82
R7304:Armc9	UTSW	1	86,090,437 (GRCm39)	missense	probably benign
R7452:Armc9	UTSW	1	86,140,814 (GRCm39)	missense	possibly damaging	0.87
R7555:Armc9	UTSW	1	86,203,400 (GRCm39)	missense	probably damaging	1.00
R7805:Armc9	UTSW	1	86,124,041 (GRCm39)	missense	probably damaging	1.00
R8490:Armc9	UTSW	1	86,202,125 (GRCm39)	missense	probably benign	0.00
R8513:Armc9	UTSW	1	86,090,405 (GRCm39)	missense	probably damaging	1.00
R9378:Armc9	UTSW	1	86,189,766 (GRCm39)	missense	probably benign
R9439:Armc9	UTSW	1	86,084,687 (GRCm39)	missense	possibly damaging	0.46
Z1177:Armc9	UTSW	1	86,124,077 (GRCm39)	missense	probably benign	0.00
Z1177:Armc9	UTSW	1	86,104,547 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCTCTTCGGGTTCTTTCTAAG -3'
(R):5'- CTGAATGACTCCCAAGGTATCAC -3'

Sequencing Primer
(F):5'- CAAGAAGAAAACCATTTCACTGTG -3'
(R):5'- AGGTATCACAGCCGTCCATGAG -3'

Posted On

2014-08-01