Mutagenetix > Incidental Mutation

Incidental Mutation 'R4934:Armc9'

380758

Institutional Source

Beutler Lab

Gene Symbol

Armc9

Ensembl Gene

ENSMUSG00000062590

Gene Name

armadillo repeat containing 9

Synonyms

4831423D23Rik, 4930438O05Rik, 5730415N24Rik, 3830422A13Rik

MMRRC Submission

042534-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.660) question?

Stock #

R4934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86082502-86206006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86140801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 63 (D63N)

Ref Sequence

ENSEMBL: ENSMUSP00000119749 (fasta)

Gene Model

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

AlphaFold

Q9D2I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000027434
AA Change: D584N

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

SMART Domains

Protein: ENSMUSP00000027434
Gene: ENSMUSG00000062590
AA Change: D584N

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: D584N

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

SMART Domains

Protein: ENSMUSP00000108934
Gene: ENSMUSG00000062590
AA Change: D584N

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: D584N

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

SMART Domains

Protein: ENSMUSP00000117267
Gene: ENSMUSG00000062590
AA Change: D584N

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: D156N

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

SMART Domains

Protein: ENSMUSP00000116908
Gene: ENSMUSG00000062590
AA Change: D156N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155168

Predicted Effect

probably damaging
Transcript: ENSMUST00000156675
AA Change: D63N

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

SMART Domains

Protein: ENSMUSP00000119749
Gene: ENSMUSG00000062590
AA Change: D63N

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

Meta Mutation Damage Score

0.1715

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

99% (134/135)

Allele List at MGI

Other mutations in this stock

Total: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	A	T	1: 31,261,580 (GRCm39)		probably benign	Het
Acy1	T	A	9: 106,312,321 (GRCm39)	I14F	probably null	Het
Ago1	T	C	4: 126,342,652 (GRCm39)	D193G	possibly damaging	Het
Arhgap45	A	T	10: 79,856,791 (GRCm39)	H201L	probably damaging	Het
Asb17	A	T	3: 153,556,336 (GRCm39)	I148F	possibly damaging	Het
Atf7ip2	A	G	16: 10,059,447 (GRCm39)	E329G	possibly damaging	Het
Atp2a1	T	A	7: 126,052,600 (GRCm39)	D373V	probably benign	Het
Cacna1e	G	T	1: 154,357,380 (GRCm39)	Y603*	probably null	Het
Cbln4	G	A	2: 171,880,901 (GRCm39)	T131I	probably damaging	Het
Ccdc126	A	G	6: 49,311,181 (GRCm39)	E63G	probably damaging	Het
Ccl4	T	A	11: 83,553,504 (GRCm39)	S6T	unknown	Het
Ccnb1	A	T	13: 100,918,209 (GRCm39)	I146K	possibly damaging	Het
Ccr8	T	A	9: 119,923,815 (GRCm39)	M310K	probably benign	Het
Cd180	A	T	13: 102,875,672 (GRCm39)		probably null	Het
Cd46	G	C	1: 194,765,107 (GRCm39)		probably benign	Het
Cebpb	A	G	2: 167,531,005 (GRCm39)	M22V	probably benign	Het
Cep152	A	G	2: 125,453,016 (GRCm39)	I352T	possibly damaging	Het
Cep295	T	G	9: 15,244,456 (GRCm39)	E1333D	probably damaging	Het
Ces4a	A	G	8: 105,864,613 (GRCm39)	H30R	probably benign	Het
Chrm3	A	G	13: 9,927,450 (GRCm39)	Y529H	probably damaging	Het
Chrnb4	T	C	9: 54,942,101 (GRCm39)	Y391C	probably benign	Het
Clca3a2	A	G	3: 144,523,692 (GRCm39)	Y98H	probably damaging	Het
Clvs1	C	T	4: 9,424,216 (GRCm39)	H221Y	possibly damaging	Het
Col3a1	G	A	1: 45,379,112 (GRCm39)		probably benign	Het
Cpn2	T	G	16: 30,079,344 (GRCm39)	N119T	probably damaging	Het
Cspg4b	C	A	13: 113,504,882 (GRCm39)	Q2004K	probably damaging	Het
Cubn	T	A	2: 13,494,721 (GRCm39)	Q109H	probably benign	Het
Cyp26b1	A	G	6: 84,553,954 (GRCm39)	V221A	possibly damaging	Het
Cyp2e1	T	G	7: 140,350,030 (GRCm39)	N238K	probably damaging	Het
Dst	C	T	1: 34,247,669 (GRCm39)	A1693V	probably damaging	Het
Dync2li1	A	G	17: 84,956,683 (GRCm39)	Q281R	probably benign	Het
Enpp2	C	T	15: 54,745,543 (GRCm39)	G318S	probably damaging	Het
Entrep1	T	C	19: 23,950,789 (GRCm39)	*597W	probably null	Het
F13a1	G	T	13: 37,061,736 (GRCm39)	P676T	probably benign	Het
Fam227a	T	C	15: 79,521,262 (GRCm39)	H267R	possibly damaging	Het
Fam78a	G	A	2: 31,959,427 (GRCm39)	R228C	probably damaging	Het
Fbxw25	T	C	9: 109,480,705 (GRCm39)	N325S	possibly damaging	Het
Foxred1	T	C	9: 35,121,210 (GRCm39)		probably benign	Het
Fstl5	T	A	3: 76,496,272 (GRCm39)	V345E	probably damaging	Het
Fzd8	GAAAAACTCA	GA	18: 9,214,492 (GRCm39)		probably null	Het
Hand1	T	C	11: 57,722,078 (GRCm39)	R179G	possibly damaging	Het
Hk1	G	T	10: 62,194,165 (GRCm39)		probably benign	Het
Hmcn1	A	C	1: 150,598,286 (GRCm39)	L1672R	probably damaging	Het
Hps5	G	A	7: 46,418,775 (GRCm39)	Q297*	probably null	Het
Iars1	T	A	13: 49,871,460 (GRCm39)	F699I	probably benign	Het
Ift140	G	A	17: 25,267,462 (GRCm39)	G620E	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4a	T	G	1: 37,426,922 (GRCm39)	Y628D	possibly damaging	Het
Itk	C	T	11: 46,280,152 (GRCm39)	R29H	probably damaging	Het
Kcnv1	A	G	15: 44,972,644 (GRCm39)	F413S	probably damaging	Het
Klhl3	A	T	13: 58,250,231 (GRCm39)	Y4*	probably null	Het
Lonrf1	C	A	8: 36,701,103 (GRCm39)	C369F	probably damaging	Het
Magohb	A	T	6: 131,261,558 (GRCm39)		probably benign	Het
Map3k4	G	A	17: 12,490,787 (GRCm39)	R215C	probably damaging	Het
Map3k8	A	T	18: 4,339,548 (GRCm39)	S274R	possibly damaging	Het
Masp1	T	G	16: 23,283,826 (GRCm39)	M470L	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Muc4	A	T	16: 32,576,472 (GRCm39)		probably benign	Het
Myo1c	T	A	11: 75,562,676 (GRCm39)	V981E	probably damaging	Het
Nedd9	A	T	13: 41,492,411 (GRCm39)	I27K	probably damaging	Het
Nkd2	C	A	13: 73,970,841 (GRCm39)	G247V	probably damaging	Het
Nucb2	A	C	7: 116,139,199 (GRCm39)	Q398P	possibly damaging	Het
Numa1	T	A	7: 101,660,064 (GRCm39)	D376E	probably benign	Het
Or2w1	G	A	13: 21,317,241 (GRCm39)	V99I	probably benign	Het
Or4c101	C	T	2: 88,389,930 (GRCm39)	T39I	probably benign	Het
Or4n5	T	C	14: 50,133,206 (GRCm39)	T18A	probably benign	Het
Or4p23	A	T	2: 88,576,398 (GRCm39)	L278*	probably null	Het
Or4q3	C	T	14: 50,583,345 (GRCm39)	V185M	probably damaging	Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or6c76b	A	T	10: 129,692,896 (GRCm39)	N170Y	possibly damaging	Het
Or8d23	A	T	9: 38,842,129 (GRCm39)	I221F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pamr1	C	T	2: 102,472,549 (GRCm39)	T616I	probably benign	Het
Pcnx1	G	A	12: 82,038,599 (GRCm39)	V1955I	possibly damaging	Het
Pira13	A	G	7: 3,825,676 (GRCm39)	Y398H	probably damaging	Het
Plekha3	T	A	2: 76,510,571 (GRCm39)	D35E	possibly damaging	Het
Pnpla2	T	G	7: 141,038,085 (GRCm39)	N184K	probably damaging	Het
Polr3a	C	T	14: 24,502,692 (GRCm39)	E1216K	probably benign	Het
Ppp1r21	A	T	17: 88,852,803 (GRCm39)	S61C	probably damaging	Het
Ppp1r21	G	C	17: 88,852,804 (GRCm39)	S61T	probably damaging	Het
Prdm13	G	T	4: 21,678,223 (GRCm39)		probably benign	Het
Prss53	T	C	7: 127,487,879 (GRCm39)	N201S	probably benign	Het
Rab11fip2	A	G	19: 59,924,290 (GRCm39)	L338S	probably damaging	Het
Rad50	T	C	11: 53,575,102 (GRCm39)	N546S	probably benign	Het
Ralgapa1	T	C	12: 55,809,359 (GRCm39)	D472G	possibly damaging	Het
Rexo4	A	G	2: 26,850,346 (GRCm39)	I277T	probably damaging	Het
Rimbp2	C	T	5: 128,865,579 (GRCm39)	V590I	probably benign	Het
Ripor3	A	G	2: 167,824,736 (GRCm39)	V864A	probably benign	Het
Rnpc3	G	A	3: 113,418,628 (GRCm39)	H107Y	possibly damaging	Het
Ryr1	A	T	7: 28,767,520 (GRCm39)	D2927E	probably damaging	Het
Samd9l	G	A	6: 3,375,621 (GRCm39)	Q547*	probably null	Het
Scaper	T	C	9: 55,716,459 (GRCm39)	E724G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,409 (GRCm39)	V1016I	probably damaging	Het
Selenoo	T	A	15: 88,982,970 (GRCm39)	M499K	probably damaging	Het
Sema4a	T	A	3: 88,345,568 (GRCm39)	D505V	probably damaging	Het
Sema5a	T	C	15: 32,679,310 (GRCm39)	M863T	probably damaging	Het
Slc24a5	T	C	2: 124,929,940 (GRCm39)	C414R	probably damaging	Het
Slc34a2	A	G	5: 53,224,942 (GRCm39)	D361G	probably damaging	Het
Slc5a1	T	C	5: 33,261,858 (GRCm39)	Y20H	probably benign	Het
Slx4ip	A	T	2: 136,910,267 (GRCm39)		probably benign	Het
Snx14	T	A	9: 88,280,341 (GRCm39)	E538V	probably damaging	Het
Sspo	C	A	6: 48,442,486 (GRCm39)	L1994I	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stap2	A	G	17: 56,304,901 (GRCm39)	S294P	possibly damaging	Het
Stat1	C	A	1: 52,193,082 (GRCm39)	Y651*	probably null	Het
Syne2	A	G	12: 75,946,046 (GRCm39)	T373A	probably benign	Het
Tacc2	A	G	7: 130,330,318 (GRCm39)	S201G	probably damaging	Het
Tdpoz3	G	A	3: 93,734,287 (GRCm39)	E321K	probably benign	Het
Thumpd1	T	C	7: 119,316,002 (GRCm39)	T316A	probably benign	Het
Tlr3	A	T	8: 45,850,072 (GRCm39)	C866S	probably benign	Het
Tmprss11g	T	A	5: 86,644,401 (GRCm39)	I148F	probably benign	Het
Topbp1	T	A	9: 103,205,568 (GRCm39)		probably benign	Het
Tpm1	T	C	9: 66,935,331 (GRCm39)		probably null	Het
Traf3ip2	T	A	10: 39,502,096 (GRCm39)	S81R	probably damaging	Het
Trim29	T	A	9: 43,222,265 (GRCm39)	N31K	probably benign	Het
Ubn2	C	T	6: 38,467,433 (GRCm39)	P563S	probably benign	Het
Usp24	T	C	4: 106,283,743 (GRCm39)	Y2418H	probably benign	Het
Vmn2r6	T	A	3: 64,463,766 (GRCm39)	D267V	probably damaging	Het
Wapl	T	A	14: 34,414,052 (GRCm39)	C305S	probably benign	Het
Yme1l1	C	A	2: 23,058,333 (GRCm39)	S155*	probably null	Het
Ythdf3	T	A	3: 16,258,220 (GRCm39)	H126Q	probably damaging	Het
Zbtb32	A	T	7: 30,290,678 (GRCm39)	C206S	possibly damaging	Het
Zbtb47	T	C	9: 121,593,045 (GRCm39)	V455A	probably damaging	Het
Zfp518a	A	T	19: 40,902,707 (GRCm39)	I879F	probably benign	Het
Zfp938	A	T	10: 82,062,012 (GRCm39)	Y203N	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
R1962:Armc9	UTSW	1	86,135,696 (GRCm39)	missense	probably damaging	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
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'- ATTCGGCCAAGAGAGTAACTGTG -3'
(R):5'- TATAGGAGGCCTCGTGTGAG -3'

Sequencing Primer
(F):5'- CCAAGAGAGTAACTGTGTGTGCC -3'
(R):5'- TGTGAGGGTTAGAGCCACCTC -3'

Posted On

2016-04-15