Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Myo9b'

226339

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71725358-71813357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71743194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 85 (V85E)

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: V85E

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

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: V85E

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: V85E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: V85E

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: V85E

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

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: V85E

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: V85E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly 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
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
R8197:Myo9b	UTSW	8	71,743,607 (GRCm39)	missense	probably damaging	1.00
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'- TCCAGTTACAGGAGGTGTGC -3'
(R):5'- TCAAAGTCTGCTTGAGGCC -3'

Sequencing Primer
(F):5'- ATCTACCCGCAGCTGTCCAG -3'
(R):5'- TTGAGGCCTCGGCAACAG -3'

Posted On

2014-09-17