Mutagenetix > Incidental Mutation

Incidental Mutation 'R1615:Myo9a'

177055

Institutional Source

Beutler Lab

Gene Symbol

Myo9a

Ensembl Gene

ENSMUSG00000039585

Gene Name

myosin IXa

Synonyms

C130068I12Rik, 4732465J09Rik

MMRRC Submission

039652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59658179-59836149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59695739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 347 (E347G)

Ref Sequence

ENSEMBL: ENSMUSP00000117432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000128341] [ENSMUST00000135298] [ENSMUST00000136740]

AlphaFold

Q8C170

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128341
AA Change: E347G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: E347G

Domain	Start	End	E-Value	Type
RA	14	112	5.57e-30	SMART
low complexity region	129	137	N/A	INTRINSIC
MYSc	140	1018	N/A	SMART
IQ	1019	1041	1.79e1	SMART
IQ	1042	1064	4.11e0	SMART
IQ	1074	1096	1.9e-2	SMART
IQ	1115	1137	1.01e-6	SMART
IQ	1138	1160	8.71e-2	SMART
low complexity region	1161	1173	N/A	INTRINSIC
coiled coil region	1265	1285	N/A	INTRINSIC
low complexity region	1372	1384	N/A	INTRINSIC
coiled coil region	1492	1539	N/A	INTRINSIC
Blast:MYSc	1685	1938	6e-89	BLAST
low complexity region	1982	1993	N/A	INTRINSIC
C1	2002	2050	2.6e-9	SMART
RhoGAP	2075	2250	3.36e-73	SMART
coiled coil region	2320	2360	N/A	INTRINSIC
low complexity region	2419	2438	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135298
AA Change: E347G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: E347G

Domain	Start	End	E-Value	Type
RA	14	112	5.57e-30	SMART
low complexity region	129	137	N/A	INTRINSIC
MYSc	140	1018	N/A	SMART
IQ	1019	1041	1.79e1	SMART
IQ	1042	1064	4.11e0	SMART
IQ	1074	1096	1.9e-2	SMART
IQ	1115	1137	1.01e-6	SMART
IQ	1138	1160	8.71e-2	SMART
low complexity region	1161	1173	N/A	INTRINSIC
coiled coil region	1265	1285	N/A	INTRINSIC
low complexity region	1372	1384	N/A	INTRINSIC
coiled coil region	1492	1539	N/A	INTRINSIC
low complexity region	1744	1759	N/A	INTRINSIC
low complexity region	2053	2064	N/A	INTRINSIC
C1	2073	2121	2.6e-9	SMART
RhoGAP	2146	2321	3.36e-73	SMART
coiled coil region	2391	2431	N/A	INTRINSIC
low complexity region	2490	2509	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136740
AA Change: E347G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: E347G

Domain	Start	End	E-Value	Type
RA	14	112	5.57e-30	SMART
low complexity region	129	137	N/A	INTRINSIC
MYSc	140	1018	N/A	SMART
IQ	1019	1041	1.79e1	SMART
IQ	1042	1064	4.11e0	SMART
IQ	1074	1096	1.9e-2	SMART
IQ	1115	1137	1.01e-6	SMART
IQ	1138	1160	8.71e-2	SMART
low complexity region	1161	1173	N/A	INTRINSIC
coiled coil region	1265	1285	N/A	INTRINSIC
low complexity region	1372	1384	N/A	INTRINSIC
coiled coil region	1492	1539	N/A	INTRINSIC
low complexity region	1744	1759	N/A	INTRINSIC
low complexity region	2053	2064	N/A	INTRINSIC
C1	2073	2121	2.6e-9	SMART
RhoGAP	2146	2321	3.36e-73	SMART
coiled coil region	2409	2449	N/A	INTRINSIC
low complexity region	2508	2527	N/A	INTRINSIC

Meta Mutation Damage Score

0.2372

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (64/65)

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 superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous KO leads to obstructive hydrocephaly caused by blockage of the third ventricle and the rostral aqueduct caused by developmental failures of their ependymal cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,743,625 (GRCm39)	C328S	probably benign	Het
Adgrv1	G	T	13: 81,572,407 (GRCm39)	T4918K	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Amer3	T	C	1: 34,627,252 (GRCm39)	M497T	probably damaging	Het
Arid2	C	T	15: 96,269,535 (GRCm39)	T1216M	possibly damaging	Het
Birc6	A	G	17: 74,916,404 (GRCm39)		probably null	Het
Bzw2	A	G	12: 36,169,126 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,763,573 (GRCm39)	H319R	probably benign	Het
Dnah11	A	G	12: 118,014,457 (GRCm39)	I2010T	probably damaging	Het
Dnhd1	A	G	7: 105,352,413 (GRCm39)	Y2522C	probably benign	Het
Dnhd1	T	A	7: 105,362,913 (GRCm39)	I3825K	possibly damaging	Het
Dst	A	T	1: 34,238,452 (GRCm39)	D3718V	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Fbxw21	T	C	9: 108,972,794 (GRCm39)	Y380C	probably damaging	Het
Fhad1	G	A	4: 141,649,634 (GRCm39)	T836M	probably damaging	Het
Fhod1	C	T	8: 106,074,463 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,576,098 (GRCm39)	C637R	probably damaging	Het
Fmnl2	A	G	2: 53,008,436 (GRCm39)	K809E	probably damaging	Het
Grm1	G	T	10: 10,617,252 (GRCm39)	Y510*	probably null	Het
Hey1	A	T	3: 8,729,898 (GRCm39)	H186Q	possibly damaging	Het
Insyn1	C	T	9: 58,406,351 (GRCm39)	A87V	probably damaging	Het
Itga2b	C	T	11: 102,350,963 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lmcd1	A	G	6: 112,250,911 (GRCm39)	D7G	probably benign	Het
Lrrc1	T	C	9: 77,342,400 (GRCm39)	D358G	possibly damaging	Het
Lyn	A	G	4: 3,748,765 (GRCm39)	K248E	probably benign	Het
Map4k4	A	G	1: 40,045,990 (GRCm39)		probably benign	Het
Map4k5	A	T	12: 69,891,187 (GRCm39)	L160H	probably damaging	Het
Mtcl2	T	G	2: 156,862,663 (GRCm39)	H1422P	probably damaging	Het
Myo6	C	T	9: 80,215,007 (GRCm39)	R1247C	probably damaging	Het
Ndfip1	C	T	18: 38,593,672 (GRCm39)	P213S	probably benign	Het
Neurl3	T	C	1: 36,308,470 (GRCm39)	E114G	possibly damaging	Het
Nlrp14	A	T	7: 106,795,370 (GRCm39)	I877F	probably benign	Het
Obscn	A	G	11: 58,990,651 (GRCm39)	S1733P	probably benign	Het
Oxgr1	A	T	14: 120,260,185 (GRCm39)	S7R	probably benign	Het
Plcb1	A	T	2: 135,204,364 (GRCm39)		probably benign	Het
Prkag2	G	T	5: 25,080,176 (GRCm39)	N120K	possibly damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Saraf	A	G	8: 34,632,442 (GRCm39)	K174E	possibly damaging	Het
Scrib	T	C	15: 75,938,054 (GRCm39)	Q264R	probably benign	Het
Sh3rf3	T	A	10: 58,966,899 (GRCm39)	M747K	probably benign	Het
Shf	T	C	2: 122,179,913 (GRCm39)	H421R	probably damaging	Het
Slc35g3	A	G	11: 69,651,368 (GRCm39)	S228P	probably damaging	Het
Slit1	A	G	19: 41,639,110 (GRCm39)		probably benign	Het
Srrm4	A	G	5: 116,585,359 (GRCm39)		probably benign	Het
Stfa1	T	G	16: 36,100,829 (GRCm39)	V23G	probably damaging	Het
Swap70	A	G	7: 109,872,498 (GRCm39)	D371G	probably benign	Het
Tada2a	T	C	11: 83,993,926 (GRCm39)	D186G	probably damaging	Het
Tdpoz3	C	A	3: 93,733,618 (GRCm39)	Q98K	probably benign	Het
Tgfbrap1	A	G	1: 43,091,145 (GRCm39)	V660A	probably benign	Het
Tnn	A	G	1: 159,945,978 (GRCm39)	Y947H	possibly damaging	Het
Trim60	A	T	8: 65,453,162 (GRCm39)	C362*	probably null	Het
Vmn1r81	T	A	7: 11,994,441 (GRCm39)	N56Y	probably damaging	Het
Vsig8	A	G	1: 172,387,280 (GRCm39)	D52G	probably damaging	Het
Wdfy4	G	A	14: 32,764,469 (GRCm39)	R2140C	probably damaging	Het

Other mutations in Myo9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myo9a	APN	9	59,750,342 (GRCm39)	splice site	probably benign
IGL00510:Myo9a	APN	9	59,739,464 (GRCm39)	splice site	probably benign
IGL00710:Myo9a	APN	9	59,782,594 (GRCm39)	missense	probably damaging	1.00
IGL00963:Myo9a	APN	9	59,807,655 (GRCm39)	missense	probably damaging	0.98
IGL01087:Myo9a	APN	9	59,697,361 (GRCm39)	missense	possibly damaging	0.93
IGL01145:Myo9a	APN	9	59,762,658 (GRCm39)	missense	probably benign	0.18
IGL01403:Myo9a	APN	9	59,778,846 (GRCm39)	missense	probably damaging	0.98
IGL01528:Myo9a	APN	9	59,686,957 (GRCm39)	missense	probably damaging	1.00
IGL01608:Myo9a	APN	9	59,778,119 (GRCm39)	nonsense	probably null
IGL01701:Myo9a	APN	9	59,791,877 (GRCm39)	critical splice donor site	probably null
IGL01918:Myo9a	APN	9	59,686,985 (GRCm39)	missense	probably damaging	1.00
IGL02026:Myo9a	APN	9	59,813,245 (GRCm39)	missense	probably damaging	0.99
IGL02139:Myo9a	APN	9	59,687,275 (GRCm39)	missense	probably benign	0.07
IGL02176:Myo9a	APN	9	59,777,836 (GRCm39)	missense	probably benign	0.45
IGL02272:Myo9a	APN	9	59,791,883 (GRCm39)	splice site	probably benign
IGL02283:Myo9a	APN	9	59,778,956 (GRCm39)	missense	probably benign	0.00
IGL02499:Myo9a	APN	9	59,722,669 (GRCm39)	splice site	probably benign
IGL02652:Myo9a	APN	9	59,771,211 (GRCm39)	missense	probably damaging	1.00
IGL02666:Myo9a	APN	9	59,832,187 (GRCm39)	missense	probably benign	0.02
IGL02878:Myo9a	APN	9	59,815,583 (GRCm39)	critical splice donor site	probably null
IGL02982:Myo9a	APN	9	59,815,491 (GRCm39)	nonsense	probably null
IGL03072:Myo9a	APN	9	59,716,725 (GRCm39)	missense	possibly damaging	0.83
IGL03090:Myo9a	APN	9	59,801,418 (GRCm39)	splice site	probably benign
IGL03111:Myo9a	APN	9	59,734,526 (GRCm39)	missense	probably benign	0.19
IGL03389:Myo9a	APN	9	59,776,890 (GRCm39)	missense	probably damaging	1.00
essentials	UTSW	9	59,802,149 (GRCm39)	missense	probably benign	0.09
necessities	UTSW	9	59,722,617 (GRCm39)	missense	probably damaging	1.00
PIT4402001:Myo9a	UTSW	9	59,777,719 (GRCm39)	missense	possibly damaging	0.83
R0013:Myo9a	UTSW	9	59,767,489 (GRCm39)	splice site	probably benign
R0013:Myo9a	UTSW	9	59,767,489 (GRCm39)	splice site	probably benign
R0018:Myo9a	UTSW	9	59,779,007 (GRCm39)	missense	probably benign	0.00
R0018:Myo9a	UTSW	9	59,779,007 (GRCm39)	missense	probably benign	0.00
R0329:Myo9a	UTSW	9	59,830,960 (GRCm39)	missense	probably damaging	1.00
R0423:Myo9a	UTSW	9	59,802,619 (GRCm39)	missense	probably damaging	1.00
R0521:Myo9a	UTSW	9	59,801,635 (GRCm39)	missense	probably damaging	1.00
R0607:Myo9a	UTSW	9	59,829,076 (GRCm39)	missense	probably benign	0.02
R0652:Myo9a	UTSW	9	59,779,209 (GRCm39)	missense	probably benign
R0653:Myo9a	UTSW	9	59,832,274 (GRCm39)	missense	probably damaging	1.00
R0723:Myo9a	UTSW	9	59,778,383 (GRCm39)	missense	probably benign	0.01
R0784:Myo9a	UTSW	9	59,803,828 (GRCm39)	splice site	probably benign
R0842:Myo9a	UTSW	9	59,778,350 (GRCm39)	missense	probably benign	0.02
R1055:Myo9a	UTSW	9	59,762,653 (GRCm39)	missense	probably benign	0.01
R1056:Myo9a	UTSW	9	59,739,484 (GRCm39)	missense	possibly damaging	0.64
R1195:Myo9a	UTSW	9	59,802,483 (GRCm39)	missense	probably damaging	1.00
R1195:Myo9a	UTSW	9	59,802,483 (GRCm39)	missense	probably damaging	1.00
R1195:Myo9a	UTSW	9	59,802,483 (GRCm39)	missense	probably damaging	1.00
R1698:Myo9a	UTSW	9	59,775,464 (GRCm39)	missense	probably benign	0.05
R1715:Myo9a	UTSW	9	59,739,583 (GRCm39)	missense	probably damaging	0.99
R1981:Myo9a	UTSW	9	59,801,429 (GRCm39)	missense	probably benign
R2228:Myo9a	UTSW	9	59,801,463 (GRCm39)	missense	probably benign	0.06
R2272:Myo9a	UTSW	9	59,722,584 (GRCm39)	missense	probably damaging	1.00
R2327:Myo9a	UTSW	9	59,687,048 (GRCm39)	missense	probably benign	0.11
R2990:Myo9a	UTSW	9	59,832,172 (GRCm39)	missense	possibly damaging	0.95
R3161:Myo9a	UTSW	9	59,739,598 (GRCm39)	splice site	probably benign
R3721:Myo9a	UTSW	9	59,775,463 (GRCm39)	missense	probably benign
R3928:Myo9a	UTSW	9	59,802,566 (GRCm39)	missense	probably damaging	1.00
R4197:Myo9a	UTSW	9	59,802,149 (GRCm39)	missense	probably benign	0.09
R4212:Myo9a	UTSW	9	59,813,349 (GRCm39)	nonsense	probably null
R4610:Myo9a	UTSW	9	59,779,165 (GRCm39)	missense	probably benign
R4616:Myo9a	UTSW	9	59,728,932 (GRCm39)	missense	probably damaging	1.00
R4621:Myo9a	UTSW	9	59,778,355 (GRCm39)	missense	probably benign	0.00
R4623:Myo9a	UTSW	9	59,778,355 (GRCm39)	missense	probably benign	0.00
R4632:Myo9a	UTSW	9	59,776,947 (GRCm39)	missense	probably benign	0.00
R4657:Myo9a	UTSW	9	59,782,699 (GRCm39)	critical splice donor site	probably null
R4892:Myo9a	UTSW	9	59,731,525 (GRCm39)	missense	probably damaging	0.98
R4897:Myo9a	UTSW	9	59,803,800 (GRCm39)	missense	probably benign	0.07
R4966:Myo9a	UTSW	9	59,779,017 (GRCm39)	missense	probably benign	0.00
R4993:Myo9a	UTSW	9	59,768,755 (GRCm39)	nonsense	probably null
R5160:Myo9a	UTSW	9	59,779,085 (GRCm39)	missense	probably benign	0.24
R5233:Myo9a	UTSW	9	59,817,900 (GRCm39)	missense	probably damaging	1.00
R5271:Myo9a	UTSW	9	59,814,665 (GRCm39)	missense	probably damaging	1.00
R5308:Myo9a	UTSW	9	59,771,244 (GRCm39)	missense	probably damaging	1.00
R5367:Myo9a	UTSW	9	59,807,732 (GRCm39)	missense	probably damaging	0.96
R5432:Myo9a	UTSW	9	59,772,953 (GRCm39)	missense	possibly damaging	0.94
R5459:Myo9a	UTSW	9	59,791,803 (GRCm39)	missense	probably damaging	0.98
R5511:Myo9a	UTSW	9	59,687,495 (GRCm39)	missense	probably damaging	1.00
R5568:Myo9a	UTSW	9	59,781,911 (GRCm39)	missense	probably benign
R5573:Myo9a	UTSW	9	59,778,284 (GRCm39)	missense	probably benign
R5589:Myo9a	UTSW	9	59,802,527 (GRCm39)	nonsense	probably null
R5607:Myo9a	UTSW	9	59,771,227 (GRCm39)	missense	probably damaging	1.00
R5633:Myo9a	UTSW	9	59,775,467 (GRCm39)	missense	possibly damaging	0.60
R5885:Myo9a	UTSW	9	59,778,503 (GRCm39)	missense	probably benign
R6024:Myo9a	UTSW	9	59,762,671 (GRCm39)	missense	possibly damaging	0.68
R6086:Myo9a	UTSW	9	59,697,340 (GRCm39)	nonsense	probably null
R6146:Myo9a	UTSW	9	59,778,512 (GRCm39)	missense	probably benign	0.01
R6194:Myo9a	UTSW	9	59,777,033 (GRCm39)	missense	probably benign	0.00
R6213:Myo9a	UTSW	9	59,734,541 (GRCm39)	missense	probably damaging	1.00
R6368:Myo9a	UTSW	9	59,832,231 (GRCm39)	missense	probably benign	0.01
R6550:Myo9a	UTSW	9	59,775,482 (GRCm39)	missense	probably damaging	1.00
R6612:Myo9a	UTSW	9	59,734,479 (GRCm39)	missense	probably damaging	1.00
R6665:Myo9a	UTSW	9	59,779,155 (GRCm39)	missense	probably benign	0.09
R6951:Myo9a	UTSW	9	59,802,051 (GRCm39)	missense	probably damaging	1.00
R7026:Myo9a	UTSW	9	59,722,617 (GRCm39)	missense	probably damaging	1.00
R7107:Myo9a	UTSW	9	59,778,098 (GRCm39)	missense	probably benign	0.44
R7310:Myo9a	UTSW	9	59,778,436 (GRCm39)	missense	probably benign	0.08
R7473:Myo9a	UTSW	9	59,802,527 (GRCm39)	missense	probably benign	0.31
R7723:Myo9a	UTSW	9	59,687,141 (GRCm39)	missense	probably damaging	1.00
R7823:Myo9a	UTSW	9	59,719,233 (GRCm39)	missense	probably damaging	1.00
R7824:Myo9a	UTSW	9	59,767,392 (GRCm39)	missense	probably damaging	1.00
R7965:Myo9a	UTSW	9	59,695,721 (GRCm39)	missense	probably damaging	1.00
R8031:Myo9a	UTSW	9	59,687,374 (GRCm39)	missense	probably benign	0.33
R8055:Myo9a	UTSW	9	59,814,743 (GRCm39)	missense	probably damaging	1.00
R8071:Myo9a	UTSW	9	59,781,931 (GRCm39)	missense	probably benign
R8250:Myo9a	UTSW	9	59,767,392 (GRCm39)	missense	probably damaging	1.00
R8260:Myo9a	UTSW	9	59,817,961 (GRCm39)	missense	probably benign	0.08
R8355:Myo9a	UTSW	9	59,817,130 (GRCm39)	missense	probably damaging	1.00
R8432:Myo9a	UTSW	9	59,687,548 (GRCm39)	missense	probably damaging	1.00
R8470:Myo9a	UTSW	9	59,739,573 (GRCm39)	missense	probably damaging	1.00
R8528:Myo9a	UTSW	9	59,767,423 (GRCm39)	missense	probably damaging	1.00
R8681:Myo9a	UTSW	9	59,775,394 (GRCm39)	missense	probably benign	0.16
R8690:Myo9a	UTSW	9	59,782,657 (GRCm39)	missense	probably benign
R8793:Myo9a	UTSW	9	59,791,850 (GRCm39)	missense	probably benign	0.03
R8812:Myo9a	UTSW	9	59,687,030 (GRCm39)	missense	probably benign	0.14
R9016:Myo9a	UTSW	9	59,775,427 (GRCm39)	nonsense	probably null
R9026:Myo9a	UTSW	9	59,716,757 (GRCm39)	missense	probably damaging	0.96
R9036:Myo9a	UTSW	9	59,687,584 (GRCm39)	nonsense	probably null
R9130:Myo9a	UTSW	9	59,739,514 (GRCm39)	missense	probably damaging	0.98
R9131:Myo9a	UTSW	9	59,768,772 (GRCm39)	missense	probably damaging	1.00
R9213:Myo9a	UTSW	9	59,772,922 (GRCm39)	missense	probably benign	0.04
R9498:Myo9a	UTSW	9	59,734,466 (GRCm39)	missense	probably damaging	1.00
R9575:Myo9a	UTSW	9	59,813,190 (GRCm39)	missense	probably damaging	1.00
R9651:Myo9a	UTSW	9	59,778,764 (GRCm39)	missense	probably damaging	0.96
R9672:Myo9a	UTSW	9	59,687,332 (GRCm39)	missense	probably benign	0.16
RF018:Myo9a	UTSW	9	59,776,869 (GRCm39)	missense	probably benign	0.00
RF019:Myo9a	UTSW	9	59,829,055 (GRCm39)	missense	probably benign	0.00
Z1176:Myo9a	UTSW	9	59,802,542 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-04-24