Incidental Mutation 'R6086:Myo9a'
ID 482489
Institutional Source Beutler Lab
Gene Symbol Myo9a
Ensembl Gene ENSMUSG00000039585
Gene Name myosin IXa
Synonyms C130068I12Rik, 4732465J09Rik
MMRRC Submission 044427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6086 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59750896-59928866 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 59790057 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 374 (Q374*)
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: Q374*
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: Q374*

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: Q374*
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: Q374*

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: Q374*
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: Q374*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (65/68)
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
3110062M04Rik A G 6: 34,874,620 (GRCm38) S127P probably damaging Het
Apob G T 12: 8,015,164 (GRCm38) K4044N probably benign Het
Asic4 G A 1: 75,473,243 (GRCm38) V468I possibly damaging Het
Atf4 T A 15: 80,257,453 (GRCm38) V348D probably benign Het
Bcl9 A G 3: 97,205,524 (GRCm38) V1205A possibly damaging Het
Bora A T 14: 99,062,294 (GRCm38) Q234L possibly damaging Het
Cap2 C A 13: 46,635,712 (GRCm38) P131Q probably damaging Het
Cdyl2 A G 8: 116,589,296 (GRCm38) S318P probably damaging Het
Ces1a T G 8: 93,027,353 (GRCm38) N341H probably benign Het
Crlf3 C T 11: 80,048,610 (GRCm38) V352M possibly damaging Het
Cybb C G X: 9,450,750 (GRCm38) D246H probably benign Het
Dnah2 T C 11: 69,516,008 (GRCm38) T529A probably benign Het
Dnah9 A C 11: 66,085,174 (GRCm38) S1350A probably benign Het
Dnah9 C T 11: 65,989,915 (GRCm38) D2619N probably damaging Het
Dnajc6 C T 4: 101,597,807 (GRCm38) S65L probably benign Het
Dnm3 C A 1: 162,321,033 (GRCm38) R256S probably damaging Het
Enpp2 T C 15: 54,845,834 (GRCm38) D795G probably damaging Het
Fah A T 7: 84,588,912 (GRCm38) W367R probably damaging Het
Fam220a T A 5: 143,563,041 (GRCm38) H69Q probably benign Het
Fgd3 T A 13: 49,287,296 (GRCm38) T220S probably benign Het
Furin G T 7: 80,395,431 (GRCm38) H248Q probably damaging Het
Gabrg1 A T 5: 70,754,053 (GRCm38) L410Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,663,803 (GRCm38) probably null Het
Gm9742 T C 13: 8,030,033 (GRCm38) noncoding transcript Het
Gpcpd1 A G 2: 132,538,114 (GRCm38) S252P probably damaging Het
Hnrnpdl C T 5: 100,036,481 (GRCm38) G398S probably null Het
Hspa1l T C 17: 34,978,155 (GRCm38) V390A possibly damaging Het
Htr3b T C 9: 48,947,298 (GRCm38) S94G probably benign Het
Klf10 G T 15: 38,296,937 (GRCm38) S271R probably benign Het
Klk1b3 T A 7: 44,201,734 (GRCm38) L197Q probably damaging Het
Knl1 A G 2: 119,094,068 (GRCm38) R1861G probably damaging Het
Lexm T C 4: 106,613,206 (GRCm38) E218G probably damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Ncapg T C 5: 45,693,236 (GRCm38) L728P probably damaging Het
Nfxl1 A C 5: 72,541,019 (GRCm38) F228V probably benign Het
Oc90 A G 15: 65,889,711 (GRCm38) S153P probably damaging Het
Olfr1230 A G 2: 89,296,854 (GRCm38) C139R probably damaging Het
Olfr1458 A G 19: 13,102,381 (GRCm38) *308Q probably null Het
Pbk A T 14: 65,815,253 (GRCm38) K182* probably null Het
Piezo1 A G 8: 122,501,657 (GRCm38) F296S possibly damaging Het
Psmg1 T A 16: 95,980,044 (GRCm38) Y288F probably damaging Het
Rab11fip4 G A 11: 79,683,480 (GRCm38) D132N probably damaging Het
Recql4 T C 15: 76,704,587 (GRCm38) D1051G probably damaging Het
Reep5 A C 18: 34,357,131 (GRCm38) D104E probably damaging Het
Rnpepl1 T C 1: 92,917,681 (GRCm38) Y441H probably damaging Het
Scnm1 T C 3: 95,130,285 (GRCm38) I157V probably benign Het
Sema3b T C 9: 107,600,848 (GRCm38) D446G probably damaging Het
Sema4d C T 13: 51,713,745 (GRCm38) R190Q probably damaging Het
Slco3a1 G A 7: 74,318,590 (GRCm38) R461C possibly damaging Het
Tcrg-C3 T C 13: 19,263,284 (GRCm38) S136P probably damaging Het
Tenm2 T A 11: 36,008,646 (GRCm38) I2562F possibly damaging Het
Thegl T A 5: 77,061,305 (GRCm38) V458E probably benign Het
Tmem40 G T 6: 115,733,667 (GRCm38) N120K possibly damaging Het
Tmod3 T C 9: 75,500,123 (GRCm38) H351R probably benign Het
Tnn C T 1: 160,086,120 (GRCm38) V1268M probably damaging Het
Tpmt T A 13: 47,035,030 (GRCm38) D132V probably damaging Het
Trib1 G A 15: 59,654,475 (GRCm38) R298H probably damaging Het
Tsen2 A G 6: 115,560,075 (GRCm38) E264G probably benign Het
Urah A G 7: 140,836,798 (GRCm38) I60M probably benign Het
Vmn2r26 T A 6: 124,039,560 (GRCm38) S328T possibly damaging Het
Vmn2r27 G C 6: 124,191,999 (GRCm38) T724R probably damaging Het
Washc2 A G 6: 116,256,216 (GRCm38) probably null Het
Wdyhv1 C A 15: 58,150,628 (GRCm38) A71E probably damaging Het
Zfp955b T A 17: 33,302,504 (GRCm38) W316R probably benign Het
Zranb2 T C 3: 157,543,246 (GRCm38) probably null 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGGGCAATGACATGTATAAGTTG -3'
(R):5'- ATGCAGTCAATGTACTCTCTGTG -3'

Posted On 2017-07-14