Incidental Mutation 'IGL02272:Myo9a'
ID 287222
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 # IGL02272
Quality Score
Status
Chromosome 9
Chromosomal Location 59750896-59928866 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 59884600 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128341] [ENSMUST00000135298] [ENSMUST00000136740]
AlphaFold Q8C170
Predicted Effect probably benign
Transcript: ENSMUST00000128341
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585

DomainStartEndE-ValueType
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: ENSMUST00000147364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214655
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,450,021 (GRCm38) C759* probably null Het
Adgrg6 T A 10: 14,468,829 (GRCm38) M127L probably damaging Het
AI314180 A T 4: 58,811,731 (GRCm38) N1439K probably benign Het
Anxa9 A G 3: 95,305,894 (GRCm38) V47A probably benign Het
Arhgef12 T A 9: 43,001,452 (GRCm38) D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 (GRCm38) probably benign Het
Ccdc169 A G 3: 55,150,748 (GRCm38) E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 (GRCm38) V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 (GRCm38) probably null Het
Cntnap1 G A 11: 101,178,316 (GRCm38) V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 (GRCm38) V852E probably damaging Het
Csmd1 A T 8: 16,199,893 (GRCm38) S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 (GRCm38) probably benign Het
Dusp6 T A 10: 99,266,019 (GRCm38) V289D probably damaging Het
Epha6 C T 16: 59,818,937 (GRCm38) R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 (GRCm38) F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 (GRCm38) W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 (GRCm38) V152E probably benign Het
Hmces A G 6: 87,917,855 (GRCm38) probably null Het
Hsph1 A G 5: 149,617,530 (GRCm38) S852P probably benign Het
Kat6b A C 14: 21,626,778 (GRCm38) K394Q probably damaging Het
Kdr G A 5: 75,961,840 (GRCm38) T475I probably benign Het
Klhl25 A G 7: 75,866,620 (GRCm38) T425A probably benign Het
Klk1b8 T A 7: 43,952,793 (GRCm38) C50S probably damaging Het
Kri1 T C 9: 21,276,168 (GRCm38) Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 (GRCm38) S953P probably benign Het
Lpin1 A G 12: 16,547,600 (GRCm38) V681A probably damaging Het
Lpin3 A G 2: 160,901,661 (GRCm38) T508A probably benign Het
Moxd1 T A 10: 24,282,700 (GRCm38) Y417* probably null Het
Mthfd1l T G 10: 4,041,812 (GRCm38) I588S probably damaging Het
Myo5c C A 9: 75,266,160 (GRCm38) N543K possibly damaging Het
Nme8 T C 13: 19,658,826 (GRCm38) Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 (GRCm38) N249T probably damaging Het
Pex11g A G 8: 3,465,898 (GRCm38) V45A probably benign Het
Pkhd1 C A 1: 20,209,260 (GRCm38) G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 (GRCm38) F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 (GRCm38) V353A probably damaging Het
Prss16 T A 13: 22,003,035 (GRCm38) Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 (GRCm38) V524E probably damaging Het
Rap1gap A G 4: 137,716,566 (GRCm38) Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 (GRCm38) L598F probably damaging Het
Sardh T G 2: 27,224,991 (GRCm38) D550A probably benign Het
Serpinc1 T G 1: 160,999,992 (GRCm38) I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 (GRCm38) D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 (GRCm38) T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 (GRCm38) T294A probably benign Het
Srrm2 T C 17: 23,815,782 (GRCm38) probably benign Het
Steap2 T A 5: 5,677,612 (GRCm38) N241I probably benign Het
Tcaf3 T C 6: 42,596,660 (GRCm38) Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 (GRCm38) Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 (GRCm38) Q52K possibly damaging Het
Ttn A G 2: 76,735,028 (GRCm38) V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 (GRCm38) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm38) K331N probably damaging Het
Usp50 G A 2: 126,769,944 (GRCm38) T232I probably damaging Het
Vmn2r116 T A 17: 23,386,004 (GRCm38) L97Q probably damaging Het
Vmn2r116 G A 17: 23,385,999 (GRCm38) M95I probably benign Het
Vmn2r24 A T 6: 123,786,884 (GRCm38) N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 (GRCm38) R383G probably benign Het
Other mutations in Myo9a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
IGL02652:Myo9a APN 9 59,863,928 (GRCm38) missense probably damaging 1.00
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