Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Myo9b'

36248

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71347770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 990 (W990R)

Ref Sequence

ENSEMBL: ENSMUSP00000129220 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071935
AA Change: W990R

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

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: W990R

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: W990R

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

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: W990R

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: W990R

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

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: W990R

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 damaging
Transcript: ENSMUST00000212935
AA Change: W991R

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

Meta Mutation Damage Score

0.9095

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,732,917	Q401R	probably benign	Het
Acpp	A	G	9: 104,314,427	F220S	probably damaging	Het
Adam7	A	G	14: 68,509,656		probably benign	Het
Adamts6	A	G	13: 104,390,076		probably null	Het
Ascc3	T	C	10: 50,748,955		probably benign	Het
Atg10	T	C	13: 91,040,990		probably null	Het
Atm	T	C	9: 53,458,838	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,169,616	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551	K1111E	probably damaging	Het
Col11a2	T	A	17: 34,062,446		probably null	Het
Ctcfl	A	G	2: 173,118,443	W116R	probably damaging	Het
Ctsk	A	T	3: 95,500,944	Y37F	probably damaging	Het
Daam2	G	C	17: 49,480,785		probably null	Het
Dcdc2b	T	C	4: 129,610,238		probably null	Het
Ddx28	C	T	8: 106,011,294	R44Q	probably damaging	Het
Dhx29	T	A	13: 112,962,859	N1139K	probably benign	Het
Dnah17	A	T	11: 118,098,539	M1281K	probably benign	Het
Dnah6	T	C	6: 73,208,609	S110G	probably benign	Het
Drc7	T	C	8: 95,072,855	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487		probably null	Het
Ecm1	A	G	3: 95,737,057	I152T	possibly damaging	Het
Edc4	C	G	8: 105,886,775	P307R	probably damaging	Het
Egr1	A	G	18: 34,863,313	T383A	possibly damaging	Het
Eml2	A	G	7: 19,190,806		probably null	Het
Eno4	A	G	19: 58,943,624		probably benign	Het
Erbb4	A	T	1: 68,330,270	I404K	probably damaging	Het
Exoc7	G	T	11: 116,295,662	T310K	probably benign	Het
Fam102b	C	T	3: 108,980,181	E256K	probably benign	Het
Fam83e	G	T	7: 45,726,969	V369L	probably benign	Het
Fam96b	T	C	8: 104,641,590	D34G	probably null	Het
Fancc	A	T	13: 63,398,156	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,309,777	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,090,076	C826*	probably null	Het
Foxi3	A	G	6: 70,956,628	D33G	probably benign	Het
Gcn1l1	T	C	5: 115,576,108		probably benign	Het
Gm14221	T	C	2: 160,568,390		noncoding transcript	Het
Golga4	T	A	9: 118,555,785	H630Q	probably benign	Het
Gpat4	T	C	8: 23,180,933	S88G	probably benign	Het
Gucy2d	A	T	7: 98,443,685	S90C	probably damaging	Het
Has2	A	C	15: 56,681,661	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,888,861	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,457,212	V48A	probably benign	Het
Lig1	T	A	7: 13,296,804		probably benign	Het
Magi2	A	G	5: 19,227,575	K96R	probably damaging	Het
Map7d1	G	T	4: 126,234,994	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439		probably null	Het
Mfsd4a	A	T	1: 132,059,275	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,109,545	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,874,304	V53M	probably damaging	Het
Myt1	A	T	2: 181,763,393		probably benign	Het
Nf1	C	T	11: 79,536,878	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,548,797	V400A	possibly damaging	Het
Nup205	T	A	6: 35,196,714		probably null	Het
Nxf1	T	C	19: 8,764,151		probably null	Het
Olfr1352	A	T	10: 78,984,386	M199L	probably benign	Het
P4hb	T	C	11: 120,563,336	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,683,631	N243S	probably benign	Het
Parp8	G	A	13: 116,924,968	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,435,327	D543A	probably benign	Het
Pld5	A	T	1: 175,975,580	L311*	probably null	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plpp5	A	T	8: 25,724,192	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,478,285	L542S	probably damaging	Het
Prkar2b	A	T	12: 31,987,974		probably null	Het
Psmg1	A	T	16: 95,987,971	S129T	possibly damaging	Het
Radil	T	C	5: 142,543,827	D38G	probably benign	Het
Ric1	T	C	19: 29,601,011		probably null	Het
Rp1l1	T	A	14: 64,031,066	L1367*	probably null	Het
Rxfp1	A	T	3: 79,737,793	M1K	probably null	Het
Serpina6	G	T	12: 103,651,949	L202I	probably damaging	Het
Simc1	T	C	13: 54,528,467	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,658,771	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,379,941		probably benign	Het
Slc34a1	T	A	13: 55,402,898		probably null	Het
Slfn10-ps	T	A	11: 83,035,774		noncoding transcript	Het
Sohlh2	A	G	3: 55,207,742	N383D	probably damaging	Het
Spag6	T	A	2: 18,710,491	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,546,555		probably benign	Het
St3gal4	T	A	9: 35,053,173	K199*	probably null	Het
Stat5a	T	A	11: 100,882,083	D712E	probably benign	Het
Stmn2	A	T	3: 8,545,690	D78V	probably damaging	Het
Stpg1	C	T	4: 135,506,466	P20S	possibly damaging	Het
Taf2	A	T	15: 55,045,929	V640E	probably damaging	Het
Tbce	T	C	13: 13,998,162	E501G	probably benign	Het
Tecpr2	A	G	12: 110,968,940	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,772,035	Y598*	probably null	Het
Ticrr	A	G	7: 79,677,340	S599G	probably damaging	Het
Tnc	A	C	4: 64,017,442	V419G	probably damaging	Het
Trappc1	C	A	11: 69,325,576	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,119,059		probably benign	Het
Ttbk2	A	T	2: 120,745,783	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,800,684	D181G	probably damaging	Het
Tut1	T	C	19: 8,955,527	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,787,586	C769F	probably benign	Het
Vdac1	T	C	11: 52,374,973		probably benign	Het
Vmn2r124	T	C	17: 18,064,224		probably null	Het
Vps8	T	C	16: 21,608,227		probably benign	Het
Wdr35	T	C	12: 8,995,625		probably benign	Het
Zdhhc7	T	A	8: 120,086,647	E141V	probably null	Het
Zfp12	C	A	5: 143,245,223	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,927,394		probably benign	Het
Zfyve9	T	A	4: 108,680,969	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,721,945	S1572T	possibly 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
R0277:Myo9b	UTSW	8	71355952	splice site	probably benign
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

PCR Primer
(F):5'- TCTTCCTGAAGGAGACAGAGCGTC -3'
(R):5'- AGGAGAGGAACTCTGAGTTGGTCAC -3'

Sequencing Primer
(F):5'- ACAGAGCGTCAGACCCTG -3'
(R):5'- TGAGTTGGTCACAGCCATC -3'

Posted On

2013-05-09