Incidental Mutation 'R0842:Myo9a'
ID 77221
Institutional Source Beutler Lab
Gene Symbol Myo9a
Ensembl Gene ENSMUSG00000039585
Gene Name myosin IXa
Synonyms C130068I12Rik, 4732465J09Rik
MMRRC Submission 039021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0842 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59658179-59836149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59778350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1369 (Q1369K)
Ref Sequence ENSEMBL: ENSMUSP00000122852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000128341] [ENSMUST00000135298] [ENSMUST00000136740]
AlphaFold Q8C170
Predicted Effect probably benign
Transcript: ENSMUST00000128341
AA Change: Q1369K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000119401
Gene: ENSMUSG00000039585
AA Change: Q1369K

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
AA Change: Q1369K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117432
Gene: ENSMUSG00000039585
AA Change: Q1369K

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
AA Change: Q1369K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122852
Gene: ENSMUSG00000039585
AA Change: Q1369K

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: ENSMUST00000215963
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl8 C A 9: 21,746,972 (GRCm39) Y53* probably null Het
Apbb1ip G A 2: 22,757,678 (GRCm39) R432Q possibly damaging Het
Catsperb A T 12: 101,429,307 (GRCm39) Q160L probably damaging Het
Cdhr18 G A 14: 13,856,686 (GRCm38) S475L probably benign Het
Cilp2 T C 8: 70,335,768 (GRCm39) Y410C probably damaging Het
Cntnap5a G A 1: 116,369,953 (GRCm39) G857S probably damaging Het
D630045J12Rik A T 6: 38,125,400 (GRCm39) V1538E probably damaging Het
Dnah7a A G 1: 53,540,833 (GRCm39) S2514P possibly damaging Het
Eme1 C T 11: 94,541,700 (GRCm39) A41T probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fap A T 2: 62,367,345 (GRCm39) W313R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Ggt6 T A 11: 72,328,088 (GRCm39) L158* probably null Het
Herc2 A C 7: 55,771,453 (GRCm39) I1072L probably benign Het
Hhat T C 1: 192,408,639 (GRCm39) N164S probably benign Het
Klrb1 A G 6: 128,687,008 (GRCm39) probably null Het
L3mbtl4 T A 17: 68,793,957 (GRCm39) D320E probably benign Het
Lyst C A 13: 13,852,826 (GRCm39) Y2275* probably null Het
Map4k3 T C 17: 80,913,412 (GRCm39) N611S probably benign Het
Morc3 T C 16: 93,670,284 (GRCm39) probably null Het
Mtr A C 13: 12,215,133 (GRCm39) Y864D probably damaging Het
Myh2 C T 11: 67,070,350 (GRCm39) A431V possibly damaging Het
Nalf1 T A 8: 9,820,114 (GRCm39) D302V probably benign Het
Nat3 T C 8: 68,000,649 (GRCm39) I176T probably benign Het
Ncapd3 C T 9: 26,948,380 (GRCm39) T54I probably benign Het
Nfyc C A 4: 120,616,574 (GRCm39) E281D probably benign Het
Nlrp14 A G 7: 106,782,342 (GRCm39) D513G probably benign Het
Pacsin2 T C 15: 83,263,382 (GRCm39) E83G probably damaging Het
Plagl1 G T 10: 13,004,298 (GRCm39) probably benign Het
Pmpcb T C 5: 21,953,772 (GRCm39) L340P possibly damaging Het
Pou2af3 T C 9: 51,183,668 (GRCm39) E102G probably benign Het
Pou2f2 A T 7: 24,796,355 (GRCm39) L364Q probably damaging Het
Rab1b A T 19: 5,154,697 (GRCm39) I84N probably damaging Het
Ric3 T C 7: 108,638,087 (GRCm39) Y222C probably damaging Het
Samhd1 A G 2: 156,965,251 (GRCm39) V188A probably damaging Het
Socs4 T A 14: 47,527,426 (GRCm39) H107Q probably damaging Het
Tex15 T A 8: 34,061,575 (GRCm39) I335K possibly damaging Het
Thoc2l T A 5: 104,667,066 (GRCm39) N529K possibly damaging Het
Thop1 C A 10: 80,911,411 (GRCm39) T99K probably damaging Het
Tnik A G 3: 28,648,235 (GRCm39) E429G possibly damaging Het
Vmn2r106 T A 17: 20,488,465 (GRCm39) I645F probably damaging Het
Zscan29 T A 2: 120,991,960 (GRCm39) R609S possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTTCAATCTCCACATGGTACTC -3'
(R):5'- TGTCTGCTGACGAATCTGTTCCATC -3'

Sequencing Primer
(F):5'- CCACATGGTACTCCTGATAGTGAG -3'
(R):5'- CAAAGGAGTCATCTGATCTCCTG -3'
Posted On 2013-10-16