Mutagenetix > Incidental Mutation

Incidental Mutation 'R8197:Myo9b'

635493

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

067620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R8197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71725358-71813357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71743607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 223 (Y223H)

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: Y223H

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

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: Y223H

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: Y223H

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

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: Y223H

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: Y223H

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

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: Y223H

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 damaging
Transcript: ENSMUST00000212935
AA Change: Y223H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

96% (46/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,780,628 (GRCm39)	D836E	probably benign	Het
Abca6	A	C	11: 110,102,641 (GRCm39)	L861R	probably damaging	Het
Adamts18	G	T	8: 114,481,227 (GRCm39)	A560E	probably damaging	Het
Adra2b	A	T	2: 127,206,578 (GRCm39)	Q365L	possibly damaging	Het
Anxa3	A	G	5: 96,982,651 (GRCm39)	T250A	probably benign	Het
B4galt5	T	A	2: 167,144,023 (GRCm39)	N309I	probably benign	Het
Bub1	G	T	2: 127,643,177 (GRCm39)	R1056S	probably damaging	Het
Ccdc185	G	T	1: 182,576,324 (GRCm39)	P122T	possibly damaging	Het
Cdk5rap3	A	G	11: 96,806,975 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,296,857 (GRCm39)	Y31N	probably benign	Het
Crygc	T	C	1: 65,112,365 (GRCm39)	M70V	probably benign	Het
Dnah14	A	G	1: 181,517,666 (GRCm39)	E2000G	possibly damaging	Het
Dpp4	T	C	2: 62,203,171 (GRCm39)	N266S	probably benign	Het
Edrf1	T	A	7: 133,249,088 (GRCm39)	D304E	probably benign	Het
Fabp9	T	G	3: 10,259,887 (GRCm39)	K42T	probably benign	Het
Fhl4	T	A	10: 84,934,101 (GRCm39)	I227F	probably damaging	Het
Gm13941	T	C	2: 110,926,921 (GRCm39)		probably null	Het
Gsdmd	T	C	15: 75,736,186 (GRCm39)	I105T	possibly damaging	Het
Gys1	A	G	7: 45,092,348 (GRCm39)	D317G	possibly damaging	Het
Hrh4	A	G	18: 13,154,986 (GRCm39)	Y175C	probably damaging	Het
Igfals	A	G	17: 25,099,278 (GRCm39)	N123S	probably benign	Het
Igkv5-37	A	G	6: 69,940,841 (GRCm39)	V2A	possibly damaging	Het
Iqsec3	A	G	6: 121,389,971 (GRCm39)	L500P	unknown	Het
Itgae	G	A	11: 73,011,210 (GRCm39)	R660Q	probably benign	Het
Kcnip2	T	C	19: 45,782,730 (GRCm39)	I204V	possibly damaging	Het
Kndc1	A	G	7: 139,493,447 (GRCm39)	E471G	probably damaging	Het
Lrrtm3	T	A	10: 63,924,295 (GRCm39)	T291S	possibly damaging	Het
Mast1	T	A	8: 85,639,450 (GRCm39)	H1293L	possibly damaging	Het
Mrnip	A	G	11: 50,090,607 (GRCm39)	E257G	probably benign	Het
Nab1	G	A	1: 52,529,127 (GRCm39)	R257*	probably null	Het
Ncapd3	C	A	9: 26,997,329 (GRCm39)	L1217I	probably damaging	Het
Or5h18	T	A	16: 58,847,448 (GRCm39)	D274V	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pde4d	T	A	13: 110,084,870 (GRCm39)	I489N	probably damaging	Het
Pdyn	C	T	2: 129,530,277 (GRCm39)	G131R	probably benign	Het
Qrich2	CACCTGCTTGCAACACACCAGGCTGAACTGGACCT	CACCT	11: 116,347,861 (GRCm39)		probably benign	Het
Rps6ka1	T	C	4: 133,592,673 (GRCm39)	K276E	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Scube2	T	A	7: 109,407,684 (GRCm39)	N752I	possibly damaging	Het
Scyl2	T	C	10: 89,498,228 (GRCm39)	I194V	probably benign	Het
Sec31b	T	G	19: 44,512,955 (GRCm39)	R511S	probably benign	Het
Serpinb6d	T	C	13: 33,851,588 (GRCm39)	F115S	probably damaging	Het
Skint6	T	G	4: 112,752,040 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,411,542 (GRCm39)	P614S	possibly damaging	Het
Tmem114	T	C	16: 8,227,516 (GRCm39)	I182M	probably damaging	Het
Vmn1r125	G	A	7: 21,006,851 (GRCm39)	V250I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp959	A	T	17: 56,204,677 (GRCm39)	D238V	probably damaging	Het

Other mutations in Myo9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Myo9b	APN	8	71,801,379 (GRCm39)	missense	probably benign
IGL01020:Myo9b	APN	8	71,804,644 (GRCm39)	missense	probably benign
IGL01479:Myo9b	APN	8	71,811,986 (GRCm39)	missense	probably damaging	1.00
IGL01704:Myo9b	APN	8	71,812,286 (GRCm39)	missense	probably damaging	0.98
IGL01761:Myo9b	APN	8	71,801,796 (GRCm39)	missense	probably damaging	0.96
IGL01766:Myo9b	APN	8	71,743,161 (GRCm39)	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71,807,901 (GRCm39)	missense	possibly damaging	0.93
IGL01834:Myo9b	APN	8	71,808,962 (GRCm39)	missense	probably damaging	1.00
IGL01838:Myo9b	APN	8	71,787,034 (GRCm39)	missense	probably damaging	0.99
IGL02318:Myo9b	APN	8	71,806,768 (GRCm39)	missense	probably damaging	0.98
IGL02333:Myo9b	APN	8	71,811,637 (GRCm39)	missense	possibly damaging	0.65
IGL02340:Myo9b	APN	8	71,743,689 (GRCm39)	missense	probably damaging	1.00
IGL02514:Myo9b	APN	8	71,743,650 (GRCm39)	missense	probably damaging	1.00
IGL02593:Myo9b	APN	8	71,743,417 (GRCm39)	missense	probably damaging	1.00
IGL03075:Myo9b	APN	8	71,807,171 (GRCm39)	missense	probably damaging	1.00
IGL03332:Myo9b	APN	8	71,801,418 (GRCm39)	missense	possibly damaging	0.78
avantgarde	UTSW	8	71,796,806 (GRCm39)	missense	probably damaging	1.00
Freaky	UTSW	8	71,743,463 (GRCm39)	missense	probably damaging	1.00
iconoclastic	UTSW	8	71,743,119 (GRCm39)	missense	probably benign	0.37
unconventional	UTSW	8	71,801,241 (GRCm39)	missense	probably benign	0.00
PIT4418001:Myo9b	UTSW	8	71,775,591 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Myo9b	UTSW	8	71,795,456 (GRCm39)	missense	possibly damaging	0.83
R0023:Myo9b	UTSW	8	71,786,412 (GRCm39)	missense	probably damaging	1.00
R0103:Myo9b	UTSW	8	71,776,493 (GRCm39)	splice site	probably benign
R0103:Myo9b	UTSW	8	71,776,493 (GRCm39)	splice site	probably benign
R0144:Myo9b	UTSW	8	71,798,687 (GRCm39)	missense	probably damaging	1.00
R0207:Myo9b	UTSW	8	71,807,869 (GRCm39)	splice site	probably benign
R0226:Myo9b	UTSW	8	71,806,476 (GRCm39)	missense	probably damaging	1.00
R0227:Myo9b	UTSW	8	71,796,806 (GRCm39)	missense	probably damaging	1.00
R0244:Myo9b	UTSW	8	71,774,457 (GRCm39)	missense	probably damaging	1.00
R0277:Myo9b	UTSW	8	71,808,596 (GRCm39)	splice site	probably benign
R0362:Myo9b	UTSW	8	71,800,414 (GRCm39)	missense	probably damaging	1.00
R0689:Myo9b	UTSW	8	71,783,400 (GRCm39)	missense	probably damaging	1.00
R0844:Myo9b	UTSW	8	71,743,119 (GRCm39)	missense	probably benign	0.37
R1051:Myo9b	UTSW	8	71,808,466 (GRCm39)	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71,743,680 (GRCm39)	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71,743,680 (GRCm39)	missense	probably damaging	1.00
R1526:Myo9b	UTSW	8	71,808,408 (GRCm39)	missense	probably damaging	1.00
R1544:Myo9b	UTSW	8	71,743,620 (GRCm39)	missense	probably damaging	1.00
R1565:Myo9b	UTSW	8	71,767,836 (GRCm39)	missense	possibly damaging	0.46
R1645:Myo9b	UTSW	8	71,775,622 (GRCm39)	missense	probably damaging	1.00
R1745:Myo9b	UTSW	8	71,806,691 (GRCm39)	missense	probably damaging	1.00
R1820:Myo9b	UTSW	8	71,786,002 (GRCm39)	missense	probably damaging	1.00
R2037:Myo9b	UTSW	8	71,743,510 (GRCm39)	missense	probably damaging	1.00
R2050:Myo9b	UTSW	8	71,743,194 (GRCm39)	missense	probably damaging	1.00
R2056:Myo9b	UTSW	8	71,812,334 (GRCm39)	missense	possibly damaging	0.78
R2129:Myo9b	UTSW	8	71,786,343 (GRCm39)	missense	probably damaging	1.00
R2423:Myo9b	UTSW	8	71,780,584 (GRCm39)	missense	probably damaging	1.00
R2869:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2869:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71,743,610 (GRCm39)	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71,743,610 (GRCm39)	missense	probably benign	0.01
R2873:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2874:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2920:Myo9b	UTSW	8	71,778,501 (GRCm39)	missense	probably damaging	0.98
R2926:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2939:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2940:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3033:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3040:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3689:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3691:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3735:Myo9b	UTSW	8	71,801,241 (GRCm39)	missense	probably benign	0.00
R4194:Myo9b	UTSW	8	71,812,268 (GRCm39)	missense	possibly damaging	0.71
R4258:Myo9b	UTSW	8	71,808,409 (GRCm39)	missense	probably damaging	1.00
R4457:Myo9b	UTSW	8	71,743,643 (GRCm39)	missense	probably damaging	1.00
R4478:Myo9b	UTSW	8	71,743,725 (GRCm39)	missense	probably damaging	1.00
R4496:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R4544:Myo9b	UTSW	8	71,780,585 (GRCm39)	missense	probably damaging	1.00
R4580:Myo9b	UTSW	8	71,767,779 (GRCm39)	missense	probably damaging	1.00
R4736:Myo9b	UTSW	8	71,809,236 (GRCm39)	missense	probably damaging	1.00
R5068:Myo9b	UTSW	8	71,801,699 (GRCm39)	missense	probably damaging	1.00
R5124:Myo9b	UTSW	8	71,808,483 (GRCm39)	missense	probably damaging	1.00
R5194:Myo9b	UTSW	8	71,801,733 (GRCm39)	missense	probably benign	0.01
R5296:Myo9b	UTSW	8	71,786,032 (GRCm39)	missense	possibly damaging	0.69
R5528:Myo9b	UTSW	8	71,775,918 (GRCm39)	missense	probably benign	0.06
R5664:Myo9b	UTSW	8	71,812,526 (GRCm39)	missense	probably benign	0.13
R5677:Myo9b	UTSW	8	71,796,330 (GRCm39)	missense	probably damaging	1.00
R5680:Myo9b	UTSW	8	71,743,016 (GRCm39)	missense	probably benign	0.00
R5982:Myo9b	UTSW	8	71,801,040 (GRCm39)	missense	probably benign	0.05
R6344:Myo9b	UTSW	8	71,780,558 (GRCm39)	missense	probably damaging	1.00
R6352:Myo9b	UTSW	8	71,801,055 (GRCm39)	missense	probably benign
R6352:Myo9b	UTSW	8	71,801,054 (GRCm39)	missense	probably benign	0.16
R6411:Myo9b	UTSW	8	71,775,599 (GRCm39)	nonsense	probably null
R6425:Myo9b	UTSW	8	71,786,272 (GRCm39)	missense	probably damaging	1.00
R6505:Myo9b	UTSW	8	71,808,501 (GRCm39)	missense	possibly damaging	0.88
R6743:Myo9b	UTSW	8	71,804,803 (GRCm39)	splice site	probably null
R6811:Myo9b	UTSW	8	71,809,222 (GRCm39)	missense	probably damaging	1.00
R6813:Myo9b	UTSW	8	71,775,949 (GRCm39)	missense	probably damaging	1.00
R6954:Myo9b	UTSW	8	71,743,463 (GRCm39)	missense	probably damaging	1.00
R7124:Myo9b	UTSW	8	71,786,345 (GRCm39)	nonsense	probably null
R7255:Myo9b	UTSW	8	71,743,535 (GRCm39)	missense	probably damaging	1.00
R7293:Myo9b	UTSW	8	71,778,549 (GRCm39)	missense	probably benign	0.00
R7342:Myo9b	UTSW	8	71,808,418 (GRCm39)	missense	probably damaging	1.00
R7451:Myo9b	UTSW	8	71,804,832 (GRCm39)	missense	probably benign	0.28
R7482:Myo9b	UTSW	8	71,795,442 (GRCm39)	missense	probably benign	0.00
R7508:Myo9b	UTSW	8	71,807,445 (GRCm39)	missense	probably benign	0.00
R7957:Myo9b	UTSW	8	71,807,405 (GRCm39)	missense	probably benign	0.12
R8062:Myo9b	UTSW	8	71,774,457 (GRCm39)	missense	probably damaging	0.99
R8108:Myo9b	UTSW	8	71,800,986 (GRCm39)	missense	probably damaging	0.99
R8274:Myo9b	UTSW	8	71,812,480 (GRCm39)	missense	probably benign	0.00
R8686:Myo9b	UTSW	8	71,786,966 (GRCm39)	missense	probably benign	0.01
R8731:Myo9b	UTSW	8	71,806,486 (GRCm39)	critical splice donor site	probably null
R8924:Myo9b	UTSW	8	71,801,675 (GRCm39)	missense	probably benign
R9056:Myo9b	UTSW	8	71,804,906 (GRCm39)	missense	probably benign	0.17
R9117:Myo9b	UTSW	8	71,800,451 (GRCm39)	missense	probably benign	0.03
R9151:Myo9b	UTSW	8	71,807,871 (GRCm39)	splice site	probably benign
R9315:Myo9b	UTSW	8	71,801,811 (GRCm39)	missense	possibly damaging	0.54
R9332:Myo9b	UTSW	8	71,812,246 (GRCm39)	missense	probably benign	0.07
R9364:Myo9b	UTSW	8	71,808,483 (GRCm39)	missense	probably damaging	1.00
R9569:Myo9b	UTSW	8	71,811,629 (GRCm39)	missense	probably benign
R9581:Myo9b	UTSW	8	71,812,543 (GRCm39)	missense	probably benign	0.19
R9600:Myo9b	UTSW	8	71,743,075 (GRCm39)	missense	possibly damaging	0.80
X0066:Myo9b	UTSW	8	71,776,542 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo9b	UTSW	8	71,743,353 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCTGACTGAAGCCAACC -3'
(R):5'- GGCCAGAACTCCCCATTTCTTG -3'

Sequencing Primer
(F):5'- TGACTGAAGCCAACCTGCTG -3'
(R):5'- GCCCTTCACATCCAGGC -3'

Posted On

2020-07-13