Incidental Mutation 'R5308:Myo9a'
ID 434487
Institutional Source Beutler Lab
Gene Symbol Myo9a
Ensembl Gene ENSMUSG00000039585
Gene Name myosin IXa
Synonyms C130068I12Rik, 4732465J09Rik
MMRRC Submission 042891-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5308 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59658179-59836149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59771244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 939 (Y939N)
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: Y939N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: Y939N

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 damaging
Transcript: ENSMUST00000135298
AA Change: Y939N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: Y939N

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 damaging
Transcript: ENSMUST00000136740
AA Change: Y939N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: Y939N

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: ENSMUST00000215963
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 97.7%
  • 10x: 95.4%
  • 20x: 91.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik T C 2: 19,528,892 (GRCm39) D163G probably damaging Het
Abcd4 C T 12: 84,650,067 (GRCm39) probably null Het
Alg9 T C 9: 50,734,011 (GRCm39) S570P possibly damaging Het
Angptl3 C A 4: 98,922,723 (GRCm39) H255N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Cdc37 A T 9: 21,052,060 (GRCm39) D326E probably benign Het
Cdk13 T C 13: 17,946,898 (GRCm39) K6R probably damaging Het
Ces1b T C 8: 93,793,645 (GRCm39) K315E probably benign Het
Cfap61 G A 2: 145,951,908 (GRCm39) G190S probably damaging Het
Cimap3 T C 3: 105,908,419 (GRCm39) T107A probably benign Het
Ckap4 T C 10: 84,364,238 (GRCm39) E275G probably benign Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Csf3r A G 4: 125,929,137 (GRCm39) D349G probably benign Het
Cyp2d37-ps T C 15: 82,574,012 (GRCm39) noncoding transcript Het
Dmbt1 T A 7: 130,642,751 (GRCm39) C190S probably damaging Het
Dnah11 A G 12: 118,049,415 (GRCm39) F1670L possibly damaging Het
Dnah5 A T 15: 28,229,797 (GRCm39) I144F possibly damaging Het
Eno2 C A 6: 124,744,056 (GRCm39) V84L probably damaging Het
Ercc4 G T 16: 12,948,028 (GRCm39) R325L probably damaging Het
Fcgr2b T G 1: 170,793,279 (GRCm39) Q250P probably benign Het
Garin5a T C 7: 44,149,606 (GRCm39) V109A probably damaging Het
Garre1 T A 7: 33,945,180 (GRCm39) K355* probably null Het
Gcfc2 T C 6: 81,920,524 (GRCm39) probably null Het
Glb1l2 C T 9: 26,676,055 (GRCm39) G509D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grn A G 11: 102,327,018 (GRCm39) N160D possibly damaging Het
Hexd T A 11: 121,113,095 (GRCm39) V510D probably damaging Het
Igfbp1 G A 11: 7,149,919 (GRCm39) probably null Het
Itga11 T A 9: 62,663,051 (GRCm39) M589K probably benign Het
Itpr1 A T 6: 108,333,472 (GRCm39) S51C probably damaging Het
Klra3 T C 6: 130,311,270 (GRCm39) probably null Het
Mad2l1 T C 6: 66,514,675 (GRCm39) probably null Het
Matn3 CGGGGCTCGGGGGC CGGGGC 12: 9,002,308 (GRCm39) probably null Het
Nxpe3 C T 16: 55,686,834 (GRCm39) S58N probably benign Het
Or1j16 T A 2: 36,530,706 (GRCm39) Y218* probably null Het
Or3a1c T A 11: 74,046,397 (GRCm39) M139K probably damaging Het
Or4c103 T C 2: 88,513,749 (GRCm39) E109G probably benign Het
Or4k45 C T 2: 111,394,899 (GRCm39) A297T probably damaging Het
Paics T C 5: 77,104,479 (GRCm39) S35P probably damaging Het
Pcnt A C 10: 76,192,159 (GRCm39) Y2717* probably null Het
Plekho2 T A 9: 65,465,957 (GRCm39) N144Y probably damaging Het
Plscr5 T C 9: 92,080,565 (GRCm39) F17S possibly damaging Het
Prrc2a C T 17: 35,380,023 (GRCm39) R192H unknown Het
Rbm27 T A 18: 42,460,275 (GRCm39) M735K probably damaging Het
Rfc1 T A 5: 65,436,804 (GRCm39) K625N probably damaging Het
Ric8b T A 10: 84,783,611 (GRCm39) F156L probably benign Het
Romo1 C A 2: 155,986,473 (GRCm39) A32E possibly damaging Het
Rpl26 T A 11: 68,795,284 (GRCm39) Y135N probably damaging Het
Sacs T C 14: 61,429,849 (GRCm39) V636A probably benign Het
Scyl2 A T 10: 89,477,869 (GRCm39) I710N probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc4a1 T A 11: 102,249,903 (GRCm39) I154F probably damaging Het
Snx11 A G 11: 96,661,535 (GRCm39) S157P probably damaging Het
Snx18 G A 13: 113,753,383 (GRCm39) Q517* probably null Het
Stard4 G T 18: 33,336,678 (GRCm39) N212K probably damaging Het
Strn3 A G 12: 51,676,168 (GRCm39) Y454H probably damaging Het
Stx17 A T 4: 48,182,851 (GRCm39) probably benign Het
Tas2r121 G A 6: 132,677,480 (GRCm39) T164I possibly damaging Het
Tbc1d8 T C 1: 39,428,490 (GRCm39) Y485C probably damaging Het
Tmem45b T C 9: 31,340,380 (GRCm39) M8V probably damaging Het
Usp28 T C 9: 48,948,501 (GRCm39) F844L probably damaging Het
Usp32 T A 11: 84,908,544 (GRCm39) N1054I probably benign Het
Xpa T A 4: 46,185,659 (GRCm39) E106D probably benign Het
Zfp85 C T 13: 67,896,974 (GRCm39) C366Y 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
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
Predicted Primers PCR Primer
(F):5'- ACTCTAAGGCAAGCAGTCATC -3'
(R):5'- ACTGCTGGTAGTCTCTTAATGC -3'

Sequencing Primer
(F):5'- GGCAAGCAGTCATCTTCTCATAAG -3'
(R):5'- GCAAATGAGTCCCGAAGATATC -3'
Posted On 2016-10-06