Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02652:Myo9a'

302201

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02652

Quality Score

Status

Chromosome

Chromosomal Location

59750896-59928866 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59863928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 928 (F928I)

Ref Sequence

ENSEMBL: ENSMUSP00000122852 (fasta)

Gene Model

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

AlphaFold

Q8C170

Predicted Effect

probably damaging
Transcript: ENSMUST00000128341
AA Change: F928I

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

SMART Domains

Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: F928I

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 damaging
Transcript: ENSMUST00000135298
AA Change: F928I

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

SMART Domains

Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: F928I

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 damaging
Transcript: ENSMUST00000136740
AA Change: F928I

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

SMART Domains

Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: F928I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215963

Coding Region Coverage

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 67,884,800 (GRCm38)	D139E	probably benign	Het
Asph	C	T	4: 9,529,984 (GRCm38)	V347I	probably benign	Het
Ccdc138	A	T	10: 58,513,079 (GRCm38)	D149V	probably benign	Het
Cep192	A	G	18: 67,858,850 (GRCm38)		probably benign	Het
Cnnm2	G	A	19: 46,763,211 (GRCm38)	R480Q	probably damaging	Het
Col24a1	C	A	3: 145,492,301 (GRCm38)	S1321*	probably null	Het
Cops6	T	G	5: 138,161,438 (GRCm38)		probably null	Het
Crim1	G	A	17: 78,315,677 (GRCm38)	A435T	probably damaging	Het
Cttn	G	T	7: 144,441,731 (GRCm38)	Q382K	probably benign	Het
Dhx38	A	G	8: 109,556,129 (GRCm38)	L635P	probably damaging	Het
Dmtf1	T	A	5: 9,121,853 (GRCm38)	T458S	probably benign	Het
Dnah5	T	C	15: 28,366,187 (GRCm38)	F2682S	probably damaging	Het
Dnah6	T	A	6: 73,095,104 (GRCm38)	Q2413L	probably damaging	Het
Dock10	T	C	1: 80,592,844 (GRCm38)		probably null	Het
Engase	C	T	11: 118,478,950 (GRCm38)	P63S	probably damaging	Het
Grik4	A	G	9: 42,675,277 (GRCm38)	V94A	possibly damaging	Het
Heatr6	T	C	11: 83,769,732 (GRCm38)	V566A	probably damaging	Het
Hydin	A	C	8: 110,589,522 (GRCm38)	T4349P	possibly damaging	Het
Inpp4b	G	A	8: 81,770,800 (GRCm38)		probably benign	Het
Mertk	A	G	2: 128,801,270 (GRCm38)	E863G	probably benign	Het
Muc19	T	A	15: 91,877,815 (GRCm38)		noncoding transcript	Het
Nyap2	T	C	1: 81,241,720 (GRCm38)	Y486H	probably damaging	Het
Oas1e	T	C	5: 120,795,405 (GRCm38)	R32G	probably damaging	Het
Or14j2	A	T	17: 37,574,945 (GRCm38)	Y159*	probably null	Het
Or4k48	A	G	2: 111,645,494 (GRCm38)	F168L	probably benign	Het
Osbpl6	G	A	2: 76,593,454 (GRCm38)	R848Q	probably damaging	Het
Piezo2	G	A	18: 63,024,475 (GRCm38)	T2388I	probably damaging	Het
Prkdc	A	G	16: 15,783,087 (GRCm38)	T2871A	probably benign	Het
Ptpn12	T	C	5: 21,002,437 (GRCm38)	K308E	probably benign	Het
Rgsl1	A	G	1: 153,825,490 (GRCm38)	L441P	probably damaging	Het
Rictor	T	C	15: 6,776,187 (GRCm38)		probably null	Het
Scn2a	T	A	2: 65,702,038 (GRCm38)	S665T	possibly damaging	Het
Scn8a	A	G	15: 101,013,476 (GRCm38)	I926V	probably damaging	Het
Snrpg	T	C	6: 86,376,528 (GRCm38)	I30T	probably damaging	Het
Spryd3	A	T	15: 102,118,990 (GRCm38)		probably null	Het
Svil	A	G	18: 5,114,531 (GRCm38)	D2036G	probably damaging	Het
Synj2	A	T	17: 6,017,593 (GRCm38)	I551F	probably damaging	Het
Tiam2	A	T	17: 3,439,696 (GRCm38)		probably benign	Het
Tmem132b	T	C	5: 125,787,575 (GRCm38)	F915S	probably damaging	Het
Try5	C	A	6: 41,311,408 (GRCm38)	V204L	probably benign	Het
Vmn2r6	T	C	3: 64,556,328 (GRCm38)	T362A	probably benign	Het

Other mutations in Myo9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myo9a	APN	9	59,843,059 (GRCm38)	splice site	probably benign
IGL00510:Myo9a	APN	9	59,832,181 (GRCm38)	splice site	probably benign
IGL00710:Myo9a	APN	9	59,875,311 (GRCm38)	missense	probably damaging	1.00
IGL00963:Myo9a	APN	9	59,900,372 (GRCm38)	missense	probably damaging	0.98
IGL01087:Myo9a	APN	9	59,790,078 (GRCm38)	missense	possibly damaging	0.93
IGL01145:Myo9a	APN	9	59,855,375 (GRCm38)	missense	probably benign	0.18
IGL01403:Myo9a	APN	9	59,871,563 (GRCm38)	missense	probably damaging	0.98
IGL01528:Myo9a	APN	9	59,779,674 (GRCm38)	missense	probably damaging	1.00
IGL01608:Myo9a	APN	9	59,870,836 (GRCm38)	nonsense	probably null
IGL01701:Myo9a	APN	9	59,884,594 (GRCm38)	critical splice donor site	probably null
IGL01918:Myo9a	APN	9	59,779,702 (GRCm38)	missense	probably damaging	1.00
IGL02026:Myo9a	APN	9	59,905,962 (GRCm38)	missense	probably damaging	0.99
IGL02139:Myo9a	APN	9	59,779,992 (GRCm38)	missense	probably benign	0.07
IGL02176:Myo9a	APN	9	59,870,553 (GRCm38)	missense	probably benign	0.45
IGL02272:Myo9a	APN	9	59,884,600 (GRCm38)	splice site	probably benign
IGL02283:Myo9a	APN	9	59,871,673 (GRCm38)	missense	probably benign	0.00
IGL02499:Myo9a	APN	9	59,815,386 (GRCm38)	splice site	probably benign
IGL02666:Myo9a	APN	9	59,924,904 (GRCm38)	missense	probably benign	0.02
IGL02878:Myo9a	APN	9	59,908,300 (GRCm38)	critical splice donor site	probably null
IGL02982:Myo9a	APN	9	59,908,208 (GRCm38)	nonsense	probably null
IGL03072:Myo9a	APN	9	59,809,442 (GRCm38)	missense	possibly damaging	0.83
IGL03090:Myo9a	APN	9	59,894,135 (GRCm38)	splice site	probably benign
IGL03111:Myo9a	APN	9	59,827,243 (GRCm38)	missense	probably benign	0.19
IGL03389:Myo9a	APN	9	59,869,607 (GRCm38)	missense	probably damaging	1.00
essentials	UTSW	9	59,894,866 (GRCm38)	missense	probably benign	0.09
necessities	UTSW	9	59,815,334 (GRCm38)	missense	probably damaging	1.00
PIT4402001:Myo9a	UTSW	9	59,870,436 (GRCm38)	missense	possibly damaging	0.83
R0013:Myo9a	UTSW	9	59,860,206 (GRCm38)	splice site	probably benign
R0013:Myo9a	UTSW	9	59,860,206 (GRCm38)	splice site	probably benign
R0018:Myo9a	UTSW	9	59,871,724 (GRCm38)	missense	probably benign	0.00
R0018:Myo9a	UTSW	9	59,871,724 (GRCm38)	missense	probably benign	0.00
R0329:Myo9a	UTSW	9	59,923,677 (GRCm38)	missense	probably damaging	1.00
R0423:Myo9a	UTSW	9	59,895,336 (GRCm38)	missense	probably damaging	1.00
R0521:Myo9a	UTSW	9	59,894,352 (GRCm38)	missense	probably damaging	1.00
R0607:Myo9a	UTSW	9	59,921,793 (GRCm38)	missense	probably benign	0.02
R0652:Myo9a	UTSW	9	59,871,926 (GRCm38)	missense	probably benign
R0653:Myo9a	UTSW	9	59,924,991 (GRCm38)	missense	probably damaging	1.00
R0723:Myo9a	UTSW	9	59,871,100 (GRCm38)	missense	probably benign	0.01
R0784:Myo9a	UTSW	9	59,896,545 (GRCm38)	splice site	probably benign
R0842:Myo9a	UTSW	9	59,871,067 (GRCm38)	missense	probably benign	0.02
R1055:Myo9a	UTSW	9	59,855,370 (GRCm38)	missense	probably benign	0.01
R1056:Myo9a	UTSW	9	59,832,201 (GRCm38)	missense	possibly damaging	0.64
R1195:Myo9a	UTSW	9	59,895,200 (GRCm38)	missense	probably damaging	1.00
R1195:Myo9a	UTSW	9	59,895,200 (GRCm38)	missense	probably damaging	1.00
R1195:Myo9a	UTSW	9	59,895,200 (GRCm38)	missense	probably damaging	1.00
R1615:Myo9a	UTSW	9	59,788,456 (GRCm38)	missense	possibly damaging	0.68
R1698:Myo9a	UTSW	9	59,868,181 (GRCm38)	missense	probably benign	0.05
R1715:Myo9a	UTSW	9	59,832,300 (GRCm38)	missense	probably damaging	0.99
R1981:Myo9a	UTSW	9	59,894,146 (GRCm38)	missense	probably benign
R2228:Myo9a	UTSW	9	59,894,180 (GRCm38)	missense	probably benign	0.06
R2272:Myo9a	UTSW	9	59,815,301 (GRCm38)	missense	probably damaging	1.00
R2327:Myo9a	UTSW	9	59,779,765 (GRCm38)	missense	probably benign	0.11
R2990:Myo9a	UTSW	9	59,924,889 (GRCm38)	missense	possibly damaging	0.95
R3161:Myo9a	UTSW	9	59,832,315 (GRCm38)	splice site	probably benign
R3721:Myo9a	UTSW	9	59,868,180 (GRCm38)	missense	probably benign
R3928:Myo9a	UTSW	9	59,895,283 (GRCm38)	missense	probably damaging	1.00
R4197:Myo9a	UTSW	9	59,894,866 (GRCm38)	missense	probably benign	0.09
R4212:Myo9a	UTSW	9	59,906,066 (GRCm38)	nonsense	probably null
R4610:Myo9a	UTSW	9	59,871,882 (GRCm38)	missense	probably benign
R4616:Myo9a	UTSW	9	59,821,649 (GRCm38)	missense	probably damaging	1.00
R4621:Myo9a	UTSW	9	59,871,072 (GRCm38)	missense	probably benign	0.00
R4623:Myo9a	UTSW	9	59,871,072 (GRCm38)	missense	probably benign	0.00
R4632:Myo9a	UTSW	9	59,869,664 (GRCm38)	missense	probably benign	0.00
R4657:Myo9a	UTSW	9	59,875,416 (GRCm38)	critical splice donor site	probably null
R4892:Myo9a	UTSW	9	59,824,242 (GRCm38)	missense	probably damaging	0.98
R4897:Myo9a	UTSW	9	59,896,517 (GRCm38)	missense	probably benign	0.07
R4966:Myo9a	UTSW	9	59,871,734 (GRCm38)	missense	probably benign	0.00
R4993:Myo9a	UTSW	9	59,861,472 (GRCm38)	nonsense	probably null
R5160:Myo9a	UTSW	9	59,871,802 (GRCm38)	missense	probably benign	0.24
R5233:Myo9a	UTSW	9	59,910,617 (GRCm38)	missense	probably damaging	1.00
R5271:Myo9a	UTSW	9	59,907,382 (GRCm38)	missense	probably damaging	1.00
R5308:Myo9a	UTSW	9	59,863,961 (GRCm38)	missense	probably damaging	1.00
R5367:Myo9a	UTSW	9	59,900,449 (GRCm38)	missense	probably damaging	0.96
R5432:Myo9a	UTSW	9	59,865,670 (GRCm38)	missense	possibly damaging	0.94
R5459:Myo9a	UTSW	9	59,884,520 (GRCm38)	missense	probably damaging	0.98
R5511:Myo9a	UTSW	9	59,780,212 (GRCm38)	missense	probably damaging	1.00
R5568:Myo9a	UTSW	9	59,874,628 (GRCm38)	missense	probably benign
R5573:Myo9a	UTSW	9	59,871,001 (GRCm38)	missense	probably benign
R5589:Myo9a	UTSW	9	59,895,244 (GRCm38)	nonsense	probably null
R5607:Myo9a	UTSW	9	59,863,944 (GRCm38)	missense	probably damaging	1.00
R5633:Myo9a	UTSW	9	59,868,184 (GRCm38)	missense	possibly damaging	0.60
R5885:Myo9a	UTSW	9	59,871,220 (GRCm38)	missense	probably benign
R6024:Myo9a	UTSW	9	59,855,388 (GRCm38)	missense	possibly damaging	0.68
R6086:Myo9a	UTSW	9	59,790,057 (GRCm38)	nonsense	probably null
R6146:Myo9a	UTSW	9	59,871,229 (GRCm38)	missense	probably benign	0.01
R6194:Myo9a	UTSW	9	59,869,750 (GRCm38)	missense	probably benign	0.00
R6213:Myo9a	UTSW	9	59,827,258 (GRCm38)	missense	probably damaging	1.00
R6368:Myo9a	UTSW	9	59,924,948 (GRCm38)	missense	probably benign	0.01
R6550:Myo9a	UTSW	9	59,868,199 (GRCm38)	missense	probably damaging	1.00
R6612:Myo9a	UTSW	9	59,827,196 (GRCm38)	missense	probably damaging	1.00
R6665:Myo9a	UTSW	9	59,871,872 (GRCm38)	missense	probably benign	0.09
R6951:Myo9a	UTSW	9	59,894,768 (GRCm38)	missense	probably damaging	1.00
R7026:Myo9a	UTSW	9	59,815,334 (GRCm38)	missense	probably damaging	1.00
R7107:Myo9a	UTSW	9	59,870,815 (GRCm38)	missense	probably benign	0.44
R7310:Myo9a	UTSW	9	59,871,153 (GRCm38)	missense	probably benign	0.08
R7473:Myo9a	UTSW	9	59,895,244 (GRCm38)	missense	probably benign	0.31
R7723:Myo9a	UTSW	9	59,779,858 (GRCm38)	missense	probably damaging	1.00
R7823:Myo9a	UTSW	9	59,811,950 (GRCm38)	missense	probably damaging	1.00
R7824:Myo9a	UTSW	9	59,860,109 (GRCm38)	missense	probably damaging	1.00
R7965:Myo9a	UTSW	9	59,788,438 (GRCm38)	missense	probably damaging	1.00
R8031:Myo9a	UTSW	9	59,780,091 (GRCm38)	missense	probably benign	0.33
R8055:Myo9a	UTSW	9	59,907,460 (GRCm38)	missense	probably damaging	1.00
R8071:Myo9a	UTSW	9	59,874,648 (GRCm38)	missense	probably benign
R8250:Myo9a	UTSW	9	59,860,109 (GRCm38)	missense	probably damaging	1.00
R8260:Myo9a	UTSW	9	59,910,678 (GRCm38)	missense	probably benign	0.08
R8355:Myo9a	UTSW	9	59,909,847 (GRCm38)	missense	probably damaging	1.00
R8432:Myo9a	UTSW	9	59,780,265 (GRCm38)	missense	probably damaging	1.00
R8470:Myo9a	UTSW	9	59,832,290 (GRCm38)	missense	probably damaging	1.00
R8528:Myo9a	UTSW	9	59,860,140 (GRCm38)	missense	probably damaging	1.00
R8681:Myo9a	UTSW	9	59,868,111 (GRCm38)	missense	probably benign	0.16
R8690:Myo9a	UTSW	9	59,875,374 (GRCm38)	missense	probably benign
R8793:Myo9a	UTSW	9	59,884,567 (GRCm38)	missense	probably benign	0.03
R8812:Myo9a	UTSW	9	59,779,747 (GRCm38)	missense	probably benign	0.14
R9016:Myo9a	UTSW	9	59,868,144 (GRCm38)	nonsense	probably null
R9026:Myo9a	UTSW	9	59,809,474 (GRCm38)	missense	probably damaging	0.96
R9036:Myo9a	UTSW	9	59,780,301 (GRCm38)	nonsense	probably null
R9130:Myo9a	UTSW	9	59,832,231 (GRCm38)	missense	probably damaging	0.98
R9131:Myo9a	UTSW	9	59,861,489 (GRCm38)	missense	probably damaging	1.00
R9213:Myo9a	UTSW	9	59,865,639 (GRCm38)	missense	probably benign	0.04
R9498:Myo9a	UTSW	9	59,827,183 (GRCm38)	missense	probably damaging	1.00
R9575:Myo9a	UTSW	9	59,905,907 (GRCm38)	missense	probably damaging	1.00
R9651:Myo9a	UTSW	9	59,871,481 (GRCm38)	missense	probably damaging	0.96
R9672:Myo9a	UTSW	9	59,780,049 (GRCm38)	missense	probably benign	0.16
RF018:Myo9a	UTSW	9	59,869,586 (GRCm38)	missense	probably benign	0.00
RF019:Myo9a	UTSW	9	59,921,772 (GRCm38)	missense	probably benign	0.00
Z1176:Myo9a	UTSW	9	59,895,259 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16