Mutagenetix > Incidental Mutations

Incidental Mutation 'R0689:Myo9b'

61280

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

038874-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R0689 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71330756 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 574 (D574N)

Ref Sequence

ENSEMBL: ENSMUSP00000131635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071935] [ENSMUST00000168839] [ENSMUST00000170242] [ENSMUST00000212935]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071935
AA Change: D574N

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

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: D574N

Domain	Start	End	E-Value	Type
RA	15	114	3.7e-30	SMART
MYSc	140	954	N/A	SMART
IQ	955	977	1.2e-3	SMART
IQ	978	1000	1.6e-5	SMART
IQ	1001	1022	4.3e-5	SMART
IQ	1023	1045	8.4e-5	SMART
low complexity region	1050	1064	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC
low complexity region	1211	1222	N/A	INTRINSIC
low complexity region	1232	1246	N/A	INTRINSIC
Blast:MYSc	1247	1323	3e-19	BLAST
low complexity region	1348	1359	N/A	INTRINSIC
coiled coil region	1563	1590	N/A	INTRINSIC
C1	1591	1639	1.7e-14	SMART
RhoGAP	1668	1843	4.7e-71	SMART
coiled coil region	1901	1925	N/A	INTRINSIC
low complexity region	1940	1952	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168839
AA Change: D574N

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

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: D574N

Domain	Start	End	E-Value	Type
RA	15	114	5.79e-28	SMART
MYSc	140	954	N/A	SMART
IQ	955	977	2.46e-1	SMART
IQ	978	1000	3.35e-3	SMART
IQ	1001	1022	8.84e-3	SMART
IQ	1023	1045	1.77e-2	SMART
low complexity region	1050	1064	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC
low complexity region	1211	1222	N/A	INTRINSIC
low complexity region	1234	1257	N/A	INTRINSIC
Blast:MYSc	1258	1334	3e-19	BLAST
low complexity region	1361	1372	N/A	INTRINSIC
low complexity region	1581	1601	N/A	INTRINSIC
C1	1605	1653	3.58e-12	SMART
RhoGAP	1682	1857	7.78e-69	SMART
coiled coil region	1915	1939	N/A	INTRINSIC
low complexity region	1954	1966	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170242
AA Change: D574N

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

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: D574N

Domain	Start	End	E-Value	Type
RA	15	114	5.79e-28	SMART
MYSc	140	954	N/A	SMART
IQ	955	977	2.46e-1	SMART
IQ	978	1000	3.35e-3	SMART
IQ	1001	1022	8.84e-3	SMART
IQ	1023	1045	1.77e-2	SMART
low complexity region	1050	1064	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC
low complexity region	1211	1222	N/A	INTRINSIC
low complexity region	1234	1257	N/A	INTRINSIC
Blast:MYSc	1258	1334	3e-19	BLAST
low complexity region	1361	1372	N/A	INTRINSIC
low complexity region	1581	1601	N/A	INTRINSIC
C1	1605	1653	3.58e-12	SMART
RhoGAP	1682	1857	7.78e-69	SMART
coiled coil region	1931	1955	N/A	INTRINSIC
low complexity region	1970	1982	N/A	INTRINSIC
low complexity region	1992	2003	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212173

Predicted Effect

probably damaging
Transcript: ENSMUST00000212935
AA Change: D574N

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

Meta Mutation Damage Score

0.5848

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,897,049	G674W	probably damaging	Het
Adcy9	A	G	16: 4,312,804		probably benign	Het
Adgrv1	C	T	13: 81,475,105	V3800I	possibly damaging	Het
Agl	A	G	3: 116,793,628	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,402,005	D400V	probably benign	Het
Bpifc	A	G	10: 85,960,547		probably benign	Het
Cachd1	G	T	4: 100,974,876	R745L	probably damaging	Het
Cadm3	T	A	1: 173,344,452	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,348,847	D215E	probably damaging	Het
Ces1g	A	G	8: 93,328,407	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668	V138M	probably benign	Het
Csmd3	A	T	15: 47,756,025	F1714I	probably benign	Het
Cyp4f18	A	G	8: 71,995,968	L279P	probably benign	Het
Dnah7a	G	A	1: 53,620,681	Q723*	probably null	Het
Dnaja2	A	G	8: 85,546,718		probably benign	Het
Dnajc6	T	C	4: 101,611,253	V162A	possibly damaging	Het
Dok4	T	C	8: 94,870,919	T3A	probably benign	Het
Efcab7	T	C	4: 99,904,784	W424R	probably damaging	Het
Fah	A	T	7: 84,593,184		probably null	Het
Fam120a	T	C	13: 48,967,638	D64G	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gas8	T	G	8: 123,524,106	L106R	probably damaging	Het
Gykl1	T	G	18: 52,694,051	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,741,979	L343I	possibly damaging	Het
Itch	T	A	2: 155,182,178	S234T	possibly damaging	Het
Itgbl1	A	T	14: 123,827,847	I61F	possibly damaging	Het
Klf6	T	A	13: 5,865,116	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,970,719	K202T	probably benign	Het
Liph	T	C	16: 21,968,068	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,293,078		probably null	Het
Olfm3	T	A	3: 115,122,545	N355K	probably benign	Het
Olfr726	A	T	14: 50,084,232	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,515,317	T500A	probably benign	Het
Pclo	A	G	5: 14,714,019	I4169V	unknown	Het
Pde4d	T	C	13: 109,740,544	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,943,278	Y157H	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,881,298		probably null	Het
Ppp1r14d	T	C	2: 119,229,612	D63G	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgip1	A	T	4: 102,966,252	D690V	probably damaging	Het
Skp1a	T	C	11: 52,243,765		probably benign	Het
Slc25a12	T	C	2: 71,311,493	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,235,550		probably benign	Het
Snx6	A	T	12: 54,763,656	S112T	probably benign	Het
Sox6	A	G	7: 115,486,551	V685A	probably damaging	Het
Taf2	A	T	15: 55,063,065	V163E	possibly damaging	Het
Tg	A	T	15: 66,839,404		probably benign	Het
Tmem30c	A	G	16: 57,270,173	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,428,583	N173D	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trerf1	C	T	17: 47,319,374		noncoding transcript	Het
Triobp	A	T	15: 78,959,988	K135*	probably null	Het
Ttll9	T	A	2: 152,983,127	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,803,610	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,811,664	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,080,520	S595P	possibly damaging	Het
Zcchc2	C	T	1: 106,030,504	Q504*	probably null	Het
Zfp2	T	C	11: 50,900,907	D103G	probably benign	Het
Zfp59	A	G	7: 27,853,717	K198R	probably benign	Het
Zfp64	C	A	2: 168,935,201		probably benign	Het

Other mutations in Myo9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Myo9b	APN	8	71348735	missense	probably benign
IGL01020:Myo9b	APN	8	71352000	missense	probably benign
IGL01479:Myo9b	APN	8	71359342	missense	probably damaging	1.00
IGL01704:Myo9b	APN	8	71359642	missense	probably damaging	0.98
IGL01761:Myo9b	APN	8	71349152	missense	probably damaging	0.96
IGL01766:Myo9b	APN	8	71290517	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71356318	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71355257	missense	possibly damaging	0.93
IGL01838:Myo9b	APN	8	71334390	missense	probably damaging	0.99
IGL02318:Myo9b	APN	8	71354124	missense	probably damaging	0.98
IGL02333:Myo9b	APN	8	71358993	missense	possibly damaging	0.65
IGL02340:Myo9b	APN	8	71291045	missense	probably damaging	1.00
IGL02514:Myo9b	APN	8	71291006	missense	probably damaging	1.00
IGL02593:Myo9b	APN	8	71290773	missense	probably damaging	1.00
IGL03075:Myo9b	APN	8	71354527	missense	probably damaging	1.00
IGL03332:Myo9b	APN	8	71348774	missense	possibly damaging	0.78
avantgarde	UTSW	8	71344162	missense	probably damaging	1.00
Freaky	UTSW	8	71290819	missense	probably damaging	1.00
iconoclastic	UTSW	8	71290475	missense	probably benign	0.37
unconventional	UTSW	8	71348597	missense	probably benign	0.00
PIT4418001:Myo9b	UTSW	8	71322947	missense	probably damaging	1.00
PIT4651001:Myo9b	UTSW	8	71342812	missense	possibly damaging	0.83
R0023:Myo9b	UTSW	8	71333768	missense	probably damaging	1.00
R0103:Myo9b	UTSW	8	71323849	splice site	probably benign
R0103:Myo9b	UTSW	8	71323849	splice site	probably benign
R0144:Myo9b	UTSW	8	71346043	missense	probably damaging	1.00
R0207:Myo9b	UTSW	8	71355225	splice site	probably benign
R0226:Myo9b	UTSW	8	71353832	missense	probably damaging	1.00
R0227:Myo9b	UTSW	8	71344162	missense	probably damaging	1.00
R0244:Myo9b	UTSW	8	71321813	missense	probably damaging	1.00
R0277:Myo9b	UTSW	8	71355952	splice site	probably benign
R0362:Myo9b	UTSW	8	71347770	missense	probably damaging	1.00
R0844:Myo9b	UTSW	8	71290475	missense	probably benign	0.37
R1051:Myo9b	UTSW	8	71355822	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71291036	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71291036	missense	probably damaging	1.00
R1526:Myo9b	UTSW	8	71355764	missense	probably damaging	1.00
R1544:Myo9b	UTSW	8	71290976	missense	probably damaging	1.00
R1565:Myo9b	UTSW	8	71315192	missense	possibly damaging	0.46
R1645:Myo9b	UTSW	8	71322978	missense	probably damaging	1.00
R1745:Myo9b	UTSW	8	71354047	missense	probably damaging	1.00
R1820:Myo9b	UTSW	8	71333358	missense	probably damaging	1.00
R2037:Myo9b	UTSW	8	71290866	missense	probably damaging	1.00
R2050:Myo9b	UTSW	8	71290550	missense	probably damaging	1.00
R2056:Myo9b	UTSW	8	71359690	missense	possibly damaging	0.78
R2129:Myo9b	UTSW	8	71333699	missense	probably damaging	1.00
R2423:Myo9b	UTSW	8	71327940	missense	probably damaging	1.00
R2869:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2869:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71290966	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71290966	missense	probably benign	0.01
R2873:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2874:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2920:Myo9b	UTSW	8	71325857	missense	probably damaging	0.98
R2926:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2939:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2940:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3033:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3040:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3689:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3691:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3735:Myo9b	UTSW	8	71348597	missense	probably benign	0.00
R4194:Myo9b	UTSW	8	71359624	missense	possibly damaging	0.71
R4258:Myo9b	UTSW	8	71355765	missense	probably damaging	1.00
R4457:Myo9b	UTSW	8	71290999	missense	probably damaging	1.00
R4478:Myo9b	UTSW	8	71291081	missense	probably damaging	1.00
R4496:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R4544:Myo9b	UTSW	8	71327941	missense	probably damaging	1.00
R4580:Myo9b	UTSW	8	71315135	missense	probably damaging	1.00
R4736:Myo9b	UTSW	8	71356592	missense	probably damaging	1.00
R5068:Myo9b	UTSW	8	71349055	missense	probably damaging	1.00
R5124:Myo9b	UTSW	8	71355839	missense	probably damaging	1.00
R5194:Myo9b	UTSW	8	71349089	missense	probably benign	0.01
R5296:Myo9b	UTSW	8	71333388	missense	possibly damaging	0.69
R5528:Myo9b	UTSW	8	71323274	missense	probably benign	0.06
R5664:Myo9b	UTSW	8	71359882	missense	probably benign	0.13
R5677:Myo9b	UTSW	8	71343686	missense	probably damaging	1.00
R5680:Myo9b	UTSW	8	71290372	missense	probably benign	0.00
R5982:Myo9b	UTSW	8	71348396	missense	probably benign	0.05
R6344:Myo9b	UTSW	8	71327914	missense	probably damaging	1.00
R6352:Myo9b	UTSW	8	71348410	missense	probably benign	0.16
R6352:Myo9b	UTSW	8	71348411	missense	probably benign
R6411:Myo9b	UTSW	8	71322955	nonsense	probably null
R6425:Myo9b	UTSW	8	71333628	missense	probably damaging	1.00
R6505:Myo9b	UTSW	8	71355857	missense	possibly damaging	0.88
R6743:Myo9b	UTSW	8	71352159	splice site	probably null
R6811:Myo9b	UTSW	8	71356578	missense	probably damaging	1.00
R6813:Myo9b	UTSW	8	71323305	missense	probably damaging	1.00
R6954:Myo9b	UTSW	8	71290819	missense	probably damaging	1.00
R7124:Myo9b	UTSW	8	71333701	nonsense	probably null
R7255:Myo9b	UTSW	8	71290891	missense	probably damaging	1.00
R7293:Myo9b	UTSW	8	71325905	missense	probably benign	0.00
R7342:Myo9b	UTSW	8	71355774	missense	probably damaging	1.00
R7451:Myo9b	UTSW	8	71352188	missense	probably benign	0.28
R7482:Myo9b	UTSW	8	71342798	missense	probably benign	0.00
R7508:Myo9b	UTSW	8	71354801	missense	probably benign	0.00
X0066:Myo9b	UTSW	8	71323898	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTCCATCAGCAATAGAGCAGCC -3'
(R):5'- AGCATCCCGTGAAGATGTGCTCAG -3'

Sequencing Primer
(F):5'- agtgagggaatgggggtg -3'
(R):5'- CATGTACCTGCTGTTTACAGAG -3'

Posted On

2013-07-30