Mutagenetix > Incidental Mutation

Incidental Mutation 'RF019:Myo9a'

603742

Institutional Source

Beutler Lab

Gene Symbol

Myo9a

Ensembl Gene

ENSMUSG00000039585

Gene Name

myosin IXa

Synonyms

C130068I12Rik, 4732465J09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59658179-59836149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59829055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2387 (V2387A)

Ref Sequence

ENSEMBL: ENSMUSP00000122852 (fasta)

Gene Model

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

AlphaFold

Q8C170

Predicted Effect

probably benign
Transcript: ENSMUST00000128341
AA Change: V2298A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: V2298A

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

probably benign
Transcript: ENSMUST00000135298
AA Change: V2369A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: V2369A

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: V2387A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: V2387A

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

86% (36/42)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,784,429 (GRCm39)	S43P	probably benign	Het
3110021N24Rik	AGCGCGGCCGGG	AG	4: 108,637,827 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,623,373 (GRCm39)	V294A	probably damaging	Het
Ciita	T	A	16: 10,324,611 (GRCm39)	I181N	probably damaging	Het
Col6a1	T	C	10: 76,547,449 (GRCm39)	M675V	unknown	Het
Colec11	A	G	12: 28,662,882 (GRCm39)	V62A	probably benign	Het
Eif3i	T	C	4: 129,494,258 (GRCm39)	T14A	probably damaging	Het
Filip1l	A	G	16: 57,391,004 (GRCm39)	T531A	probably benign	Het
Fscb	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,519,370 (GRCm39)		probably benign	Het
Garre1	A	G	7: 33,939,974 (GRCm39)	F918L	probably damaging	Het
Gpr89	T	C	3: 96,812,509 (GRCm39)	I11V	probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Hivep3	T	C	4: 119,955,467 (GRCm39)	V1261A	probably benign	Het
Itgad	C	A	7: 127,791,380 (GRCm39)	H751N	probably benign	Het
Krtap28-10	CCACAGCCACAGCCA	CCACAGCCACAGCCAACACAGCCACAGCCA	1: 83,019,990 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,061 (GRCm39)	K419E	not run	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,872,815 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,252,289 (GRCm39)	W534R	probably damaging	Het
Ncapg	C	A	5: 45,856,198 (GRCm39)	P949Q	probably benign	Het
Nuggc	T	C	14: 65,885,713 (GRCm39)	F796S	probably damaging	Het
Otol1	A	T	3: 69,925,933 (GRCm39)	E36V	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTAT	15: 44,421,903 (GRCm39)		probably benign	Het
Ralgapa2	A	G	2: 146,203,423 (GRCm39)	I1095T	possibly damaging	Het
Reep1	C	CCGCG	6: 71,684,953 (GRCm39)		probably null	Het
Smarca2	GCAGCA	GCAGCAACAGCA	19: 26,608,401 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,735,794 (GRCm39)	I1886V	probably benign	Het
Txnrd1	T	G	10: 82,720,934 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,618,962 (GRCm39)	V60A	probably damaging	Het
Vmn1r45	A	T	6: 89,910,091 (GRCm39)	V293E	probably damaging	Het
Zfhx4	T	A	3: 5,468,327 (GRCm39)	D2853E	probably benign	Het
Zfp108	G	T	7: 23,961,032 (GRCm39)	R541L	probably benign	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
R1615:Myo9a	UTSW	9	59,695,739 (GRCm39)	missense	possibly damaging	0.68
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
Z1176:Myo9a	UTSW	9	59,802,542 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGAGCTAGAATGTGTGTCC -3'
(R):5'- ACAACTGGTATCCTCTCTGGGC -3'

Sequencing Primer
(F):5'- AATTTGTTGGACTTTTGATATCTTGC -3'
(R):5'- GGTATCCTCTCTGGGCACTTAC -3'

Posted On

2019-12-04