Incidental Mutation 'R1715:Myo9a'
ID 190943
Institutional Source Beutler Lab
Gene Symbol Myo9a
Ensembl Gene ENSMUSG00000039585
Gene Name myosin IXa
Synonyms C130068I12Rik, 4732465J09Rik
MMRRC Submission 039748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1715 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59750896-59928866 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59832300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 765 (E765G)
Ref Sequence ENSEMBL: ENSMUSP00000117432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128341] [ENSMUST00000135298] [ENSMUST00000136740]
AlphaFold Q8C170
Predicted Effect probably damaging
Transcript: ENSMUST00000128341
AA Change: E765G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: E765G

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: E765G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: E765G

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: E765G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: E765G

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,199,824 (GRCm38) probably null Het
2210010C04Rik A G 6: 41,032,936 (GRCm38) probably null Het
2410089E03Rik T A 15: 8,226,900 (GRCm38) probably null Het
Abca8a G A 11: 110,091,580 (GRCm38) T12M probably damaging Het
Alms1 T A 6: 85,629,052 (GRCm38) Y2561* probably null Het
Atp10a G A 7: 58,786,505 (GRCm38) V348I probably damaging Het
Best2 T C 8: 85,011,223 (GRCm38) Y181C probably benign Het
Btaf1 T A 19: 36,969,121 (GRCm38) D442E probably damaging Het
C330027C09Rik C T 16: 49,005,719 (GRCm38) T383I probably benign Het
Carmil3 T G 14: 55,504,532 (GRCm38) V1153G probably benign Het
Cc2d2a A G 5: 43,718,661 (GRCm38) I993M probably damaging Het
Ccng1 G A 11: 40,752,114 (GRCm38) P169S probably benign Het
Cmtr2 T C 8: 110,222,798 (GRCm38) L580P probably damaging Het
Col22a1 T C 15: 72,006,981 (GRCm38) E109G possibly damaging Het
Crispld2 G T 8: 120,023,649 (GRCm38) W264L possibly damaging Het
Cyp2c38 T C 19: 39,404,795 (GRCm38) H276R probably benign Het
Dag1 A T 9: 108,208,715 (GRCm38) V409E possibly damaging Het
Emc8 T C 8: 120,658,555 (GRCm38) N146S probably benign Het
Glt8d1 T C 14: 31,011,521 (GRCm38) V321A possibly damaging Het
Gm5174 C T 10: 86,656,912 (GRCm38) noncoding transcript Het
Hdac10 G T 15: 89,126,709 (GRCm38) probably null Het
Hectd4 A G 5: 121,344,818 (GRCm38) D3144G possibly damaging Het
Ifna11 C T 4: 88,820,236 (GRCm38) S93L probably damaging Het
Il16 T C 7: 83,648,728 (GRCm38) N431S probably benign Het
Irf8 A T 8: 120,754,388 (GRCm38) E237V probably damaging Het
Lrp1b A G 2: 41,185,981 (GRCm38) Y1769H probably damaging Het
Lrrc9 A G 12: 72,477,299 (GRCm38) N761D probably damaging Het
Mbtps1 T C 8: 119,542,730 (GRCm38) Y207C probably benign Het
Nlrp3 A G 11: 59,543,351 (GRCm38) D80G probably damaging Het
Olfr361 G A 2: 37,085,176 (GRCm38) P191S probably damaging Het
Olfr697 G C 7: 106,741,548 (GRCm38) P129A probably damaging Het
Olfr830 A T 9: 18,875,794 (GRCm38) I156F probably benign Het
Pcyt2 T A 11: 120,615,851 (GRCm38) probably null Het
Plxnd1 T C 6: 115,968,681 (GRCm38) T944A probably benign Het
Psd4 A T 2: 24,405,332 (GRCm38) I833F probably damaging Het
Psmd7 A G 8: 107,581,185 (GRCm38) I222T probably benign Het
Rap2b A G 3: 61,365,190 (GRCm38) E45G probably damaging Het
Rbm22 T C 18: 60,560,844 (GRCm38) S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,651,666 (GRCm38) probably benign Het
Rfx4 A G 10: 84,844,280 (GRCm38) N107S probably damaging Het
Ripk2 T A 4: 16,155,192 (GRCm38) probably null Het
Rpgrip1 T A 14: 52,140,691 (GRCm38) C499S possibly damaging Het
Scarf1 T C 11: 75,524,044 (GRCm38) S515P probably damaging Het
Sgip1 T C 4: 102,915,059 (GRCm38) V215A probably benign Het
Sis T C 3: 72,889,010 (GRCm38) I1813V possibly damaging Het
Slc17a3 A T 13: 23,856,741 (GRCm38) T317S probably benign Het
Slc35e1 T C 8: 72,483,977 (GRCm38) N340S probably benign Het
Smg6 A G 11: 74,929,430 (GRCm38) I176V probably benign Het
Smim17 T C 7: 6,429,326 (GRCm38) L89S probably damaging Het
Synm T C 7: 67,736,303 (GRCm38) N95S probably damaging Het
Tdrd9 A G 12: 112,036,439 (GRCm38) K841E possibly damaging Het
Tep1 G T 14: 50,854,567 (GRCm38) F570L possibly damaging Het
Tgm3 G A 2: 130,026,814 (GRCm38) probably null Het
Tra2b T C 16: 22,252,746 (GRCm38) Y128C possibly damaging Het
Vmn2r17 T C 5: 109,428,244 (GRCm38) V327A probably benign Het
Wdr20rt A T 12: 65,227,314 (GRCm38) D344V probably damaging Het
Zfp940 A G 7: 29,844,938 (GRCm38) C515R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGCACACACTCGGCAGACATTG -3'
(R):5'- TGGTGCATAGCAAATGGGACAGTC -3'

Sequencing Primer
(F):5'- TGGGGAGAGTTATTCACATGG -3'
(R):5'- CATAGCAAATGGGACAGTCAAAATC -3'
Posted On 2014-05-14