Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Myo9b'

65302

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 71355952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148316 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071935

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677

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 benign
Transcript: ENSMUST00000168839

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677

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 benign
Transcript: ENSMUST00000170242

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677

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

probably benign
Transcript: ENSMUST00000212412

Predicted Effect

probably benign
Transcript: ENSMUST00000212935

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 125,318,643	K69R	unknown	Het
4932438A13Rik	T	A	3: 36,943,182	C1129*	probably null	Het
Abca13	A	C	11: 9,294,701	D2188A	probably benign	Het
Acad11	T	C	9: 104,124,025	M708T	probably damaging	Het
Adam7	T	C	14: 68,510,857		probably null	Het
Adgre1	T	A	17: 57,444,060	I578N	probably benign	Het
Agbl4	T	C	4: 111,617,222	S403P	probably damaging	Het
Ak3	A	G	19: 29,047,792	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,747,380		probably benign	Het
Arhgef1	A	T	7: 24,923,799		probably benign	Het
Arsk	T	C	13: 76,074,932	N182S	probably benign	Het
Aspscr1	G	A	11: 120,678,420	V15I	probably damaging	Het
Asxl2	A	G	12: 3,442,487	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,568,252	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,526,909	K672E	probably benign	Het
Bmp2k	A	G	5: 97,087,823		probably benign	Het
Casp6	T	A	3: 129,910,523	V86E	probably benign	Het
Cdca5	A	G	19: 6,090,712	E260G	unknown	Het
Cpb2	T	A	14: 75,265,458	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477	S183T	unknown	Het
Dhtkd1	T	A	2: 5,914,888	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046	D1823G	probably benign	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Erc1	T	C	6: 119,620,328	K1003E	probably damaging	Het
Ezr	G	A	17: 6,754,765	Q105*	probably null	Het
Fam83d	T	A	2: 158,785,547	D385E	probably benign	Het
Fbn2	A	G	18: 58,045,317	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,184,209	I236N	probably damaging	Het
Fcgbp	G	T	7: 28,085,493		probably null	Het
Foxe3	T	C	4: 114,925,608	N136D	probably damaging	Het
Fscn2	A	T	11: 120,368,011	I461F	probably damaging	Het
Gldc	A	G	19: 30,116,451	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,270,646	L125S	possibly damaging	Het
Gnl3	A	C	14: 31,013,427		probably null	Het
Gsto1	A	T	19: 47,857,977	I88F	probably damaging	Het
Gucy1b1	T	A	3: 82,038,156		probably null	Het
Hhla1	C	A	15: 65,948,503	V133F	probably benign	Het
Hipk3	T	A	2: 104,441,248	L446F	probably damaging	Het
Hscb	T	C	5: 110,834,690	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,991,405	D266G	probably benign	Het
Ipo4	T	C	14: 55,632,115	S363G	probably benign	Het
Kcnip3	A	G	2: 127,459,979		probably benign	Het
Klhl41	A	G	2: 69,671,296	Y367C	probably damaging	Het
Klk1b4	C	G	7: 44,211,629	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,054,322	D53G	probably damaging	Het
Llgl2	A	G	11: 115,850,720	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,643,422	T269P	probably damaging	Het
Mark1	A	G	1: 184,944,952	S34P	possibly damaging	Het
Megf11	G	A	9: 64,691,350		probably null	Het
Mplkip	A	G	13: 17,696,980	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690		probably benign	Het
Myo18b	A	G	5: 112,693,347		probably benign	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,934,935		probably benign	Het
Nfe2l3	T	A	6: 51,457,468	M336K	probably benign	Het
Nrxn1	A	C	17: 90,700,742		probably null	Het
Nsun3	A	T	16: 62,776,644		probably benign	Het
Nuak1	T	C	10: 84,374,451	E591G	probably benign	Het
Olfr1347	T	A	7: 6,488,434	M147L	probably benign	Het
Olfr1511	T	C	14: 52,390,389	Y128C	probably damaging	Het
Olfr215	A	T	6: 116,582,601	V115E	probably damaging	Het
Olfr23	A	T	11: 73,940,947	I234F	probably benign	Het
Olfr730	T	C	14: 50,186,332	N296S	probably null	Het
Olfr814	T	A	10: 129,874,067	Q230L	probably damaging	Het
Olfr982	G	A	9: 40,074,714	V140I	probably benign	Het
Orc4	A	T	2: 48,937,467	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,979,892		probably benign	Het
Palm3	T	A	8: 84,028,720	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,275,538	D2755E	probably benign	Het
Prune2	A	T	19: 17,121,389	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,388,616	I483L	probably benign	Het
Qrsl1	A	G	10: 43,896,007		probably null	Het
Rab11fip4	A	G	11: 79,686,629	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,677,238	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,857,900		probably benign	Het
Rsbn1	T	C	3: 103,914,581	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,989,702	M1K	probably null	Het
Sf3b1	T	C	1: 55,019,257	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,126,671	M777K	probably benign	Het
Sipa1	A	T	19: 5,654,065	M743K	probably benign	Het
Skint5	T	C	4: 113,937,621	H255R	probably benign	Het
Slco6b1	A	T	1: 96,988,673		noncoding transcript	Het
Slfn4	A	T	11: 83,186,951	R188S	probably damaging	Het
Sort1	T	C	3: 108,324,592		probably benign	Het
Spg21	A	T	9: 65,465,347	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,745,145	I1544F	probably benign	Het
Srf	T	C	17: 46,549,489	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,564,596		probably benign	Het
Stx2	C	T	5: 128,988,903	V230I	probably benign	Het
Sv2b	A	T	7: 75,206,439	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,661,788	S255P	probably damaging	Het
Tbx15	C	T	3: 99,352,391	P526L	probably damaging	Het
Tenm4	C	A	7: 96,694,950	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,710,927		probably benign	Het
Tgm1	T	C	14: 55,712,652		probably benign	Het
Thsd7b	A	G	1: 130,195,263	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,739,881	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,806,427		probably null	Het
Uty	T	A	Y: 1,169,979	I326F	probably damaging	Het
Wdfy4	T	C	14: 33,083,785	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,847,383	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,513,268	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,852,348	E882V	probably damaging	Het
Zfp455	G	T	13: 67,198,664		probably null	Het
Zmpste24	A	G	4: 121,082,853	Y199H	probably damaging	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
R0362:Myo9b	UTSW	8	71347770	missense	probably damaging	1.00
R0689:Myo9b	UTSW	8	71330756	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
R7957:Myo9b	UTSW	8	71354761	missense	probably benign	0.12
R8062:Myo9b	UTSW	8	71321813	missense	probably damaging	0.99
R8108:Myo9b	UTSW	8	71348342	missense	probably damaging	0.99
R8197:Myo9b	UTSW	8	71290963	missense	probably damaging	1.00
R8274:Myo9b	UTSW	8	71359836	missense	probably benign	0.00
R8686:Myo9b	UTSW	8	71334322	missense	probably benign	0.01
R8731:Myo9b	UTSW	8	71353842	critical splice donor site	probably null
R8924:Myo9b	UTSW	8	71349031	missense	probably benign
R9056:Myo9b	UTSW	8	71352262	missense	probably benign	0.17
R9117:Myo9b	UTSW	8	71347807	missense	probably benign	0.03
R9151:Myo9b	UTSW	8	71355227	splice site	probably benign
R9315:Myo9b	UTSW	8	71349167	missense	possibly damaging	0.54
R9332:Myo9b	UTSW	8	71359602	missense	probably benign	0.07
R9364:Myo9b	UTSW	8	71355839	missense	probably damaging	1.00
R9569:Myo9b	UTSW	8	71358985	missense	probably benign
R9581:Myo9b	UTSW	8	71359899	missense	probably benign	0.19
R9600:Myo9b	UTSW	8	71290431	missense	possibly damaging	0.80
X0066:Myo9b	UTSW	8	71323898	missense	probably damaging	1.00
Z1177:Myo9b	UTSW	8	71290709	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08