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 59658179-59836149 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 59791883 bp (GRCm39)
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: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cdh3 G T 8: 107,274,468 (GRCm39) probably null Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G probably benign Het
Other mutations in Myo9a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16