Incidental Mutation 'R9016:Myo9a'
ID 686011
Institutional Source Beutler Lab
Gene Symbol Myo9a
Ensembl Gene ENSMUSG00000039585
Gene Name myosin IXa
Synonyms C130068I12Rik, 4732465J09Rik
MMRRC Submission 068846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59658179-59836149 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 59775427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1013 (Q1013*)
Ref Sequence ENSEMBL: ENSMUSP00000122852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128341] [ENSMUST00000135298] [ENSMUST00000136740]
AlphaFold Q8C170
Predicted Effect probably null
Transcript: ENSMUST00000128341
AA Change: Q1013*
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: Q1013*

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 null
Transcript: ENSMUST00000135298
AA Change: Q1013*
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: Q1013*

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 null
Transcript: ENSMUST00000136740
AA Change: Q1013*
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: Q1013*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,932,154 (GRCm39) S264R probably damaging Het
Agap1 T C 1: 89,694,188 (GRCm39) probably null Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Apob C T 12: 8,035,408 (GRCm39) silent Het
Atg2a G C 19: 6,300,111 (GRCm39) A640P probably damaging Het
AW209491 G A 13: 14,812,193 (GRCm39) V349M probably damaging Het
Bmpr2 C T 1: 59,854,460 (GRCm39) T103I probably damaging Het
Btaf1 A C 19: 36,971,705 (GRCm39) E1231D probably benign Het
Btbd7 T C 12: 102,751,417 (GRCm39) R1116G probably damaging Het
Catsperg1 A T 7: 28,891,162 (GRCm39) M627K probably benign Het
Cdk7 G A 13: 100,854,126 (GRCm39) T121I probably benign Het
Csmd3 T A 15: 47,522,438 (GRCm39) T1833S Het
Dapk3 A T 10: 81,028,266 (GRCm39) R279W probably damaging Het
Dennd2b A C 7: 109,139,642 (GRCm39) D645E possibly damaging Het
Dnah9 T C 11: 65,998,856 (GRCm39) E1064G probably damaging Het
Dner T C 1: 84,673,226 (GRCm39) E75G probably benign Het
Dnmt1 T C 9: 20,847,855 (GRCm39) E229G possibly damaging Het
Fam171a1 G A 2: 3,227,434 (GRCm39) A856T probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fen1 A T 19: 10,178,306 (GRCm39) V46D probably damaging Het
Ffar3 T C 7: 30,554,454 (GRCm39) R289G probably damaging Het
Fhod3 G A 18: 25,243,136 (GRCm39) E1165K possibly damaging Het
Fras1 A T 5: 96,783,923 (GRCm39) H809L probably damaging Het
Gbp7 A T 3: 142,249,870 (GRCm39) E447V probably benign Het
Gja8 T C 3: 96,827,521 (GRCm39) D47G probably damaging Het
Gm5795 A G 14: 14,883,574 (GRCm39) K144E probably benign Het
Gm7298 A C 6: 121,758,800 (GRCm39) Q1139H possibly damaging Het
Gpa33 A T 1: 165,992,730 (GRCm39) Y281F probably damaging Het
H2-M10.5 G A 17: 37,084,226 (GRCm39) E63K possibly damaging Het
Hgf T C 5: 16,823,956 (GRCm39) W718R probably damaging Het
Ifna5 C G 4: 88,754,046 (GRCm39) D95E probably benign Het
Ifnar2 T C 16: 91,201,073 (GRCm39) L438P possibly damaging Het
Ints1 T C 5: 139,744,326 (GRCm39) T1479A probably benign Het
Kif1a C T 1: 92,953,395 (GRCm39) R1263H probably damaging Het
Ltbp2 T C 12: 84,856,467 (GRCm39) T686A probably benign Het
Med12l A T 3: 59,163,294 (GRCm39) E1307V probably damaging Het
Mtcl1 T A 17: 66,651,062 (GRCm39) T1468S probably damaging Het
Nckap5 T C 1: 126,623,491 (GRCm39) M1V probably null Het
Nos3 G T 5: 24,588,639 (GRCm39) V1122F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Odad1 T G 7: 45,585,988 (GRCm39) C128W probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or52n4 A T 7: 104,293,828 (GRCm39) C250* probably null Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
P2rx6 T A 16: 17,385,304 (GRCm39) H132Q possibly damaging Het
Pakap T C 4: 57,637,857 (GRCm39) C12R unknown Het
Pde6b T A 5: 108,536,592 (GRCm39) M96K possibly damaging Het
Polq T A 16: 36,843,159 (GRCm39) L231Q probably damaging Het
Pramel23 T C 4: 143,423,899 (GRCm39) I297V possibly damaging Het
Prrc2a G A 17: 35,378,844 (GRCm39) T399I unknown Het
Rapsn A G 2: 90,867,172 (GRCm39) D158G probably damaging Het
Rcor1 T A 12: 111,047,933 (GRCm39) probably benign Het
Sema4d G T 13: 51,867,794 (GRCm39) P186T probably damaging Het
Skic2 A C 17: 35,063,640 (GRCm39) L601R probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Sox15 T G 11: 69,546,529 (GRCm39) Y111D probably damaging Het
Spen C T 4: 141,200,938 (GRCm39) C2563Y probably damaging Het
Taf8 A T 17: 47,807,527 (GRCm39) D153E probably damaging Het
Tet3 G A 6: 83,345,253 (GRCm39) A1728V probably damaging Het
Tmem232 A T 17: 65,737,778 (GRCm39) D427E probably benign Het
Tmem53 T C 4: 117,125,451 (GRCm39) I188T probably benign Het
Tnc T G 4: 63,935,331 (GRCm39) D535A probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Tnik G A 3: 28,692,544 (GRCm39) G867R probably damaging Het
Uba3 A T 6: 97,162,694 (GRCm39) C367* probably null Het
Vmn1r235 G T 17: 21,481,969 (GRCm39) S98I possibly damaging Het
Vmn2r15 T C 5: 109,442,109 (GRCm39) E108G probably benign Het
Xrra1 T A 7: 99,525,462 (GRCm39) I127N probably benign Het
Zc3h18 G A 8: 123,129,963 (GRCm39) R447Q unknown Het
Zcwpw1 C A 5: 137,798,340 (GRCm39) P179Q probably damaging Het
Zfp526 C T 7: 24,925,264 (GRCm39) H508Y probably damaging Het
Zfp583 T C 7: 6,320,404 (GRCm39) K203E probably benign Het
Zfp979 A G 4: 147,697,504 (GRCm39) C402R possibly damaging Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging 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
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
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 PCR Primer
(F):5'- TTCAGTTTGAGAGTGGTTACTTCAATC -3'
(R):5'- ATGTTTCACAGTAAAATGGTTCTGG -3'

Sequencing Primer
(F):5'- GAGAGTGGTTACTTCAATCCAGATG -3'
(R):5'- GCCTGTCTCAAATGAAGGA -3'
Posted On 2021-10-11