Incidental Mutation 'R5664:Myo9b'
ID 444270
Institutional Source Beutler Lab
Gene Symbol Myo9b
Ensembl Gene ENSMUSG00000004677
Gene Name myosin IXb
Synonyms
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.770) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 71272714-71360713 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71359882 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2099 (D2099G)
Ref Sequence ENSEMBL: ENSMUSP00000129220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071935] [ENSMUST00000168839] [ENSMUST00000170242] [ENSMUST00000212935]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071935
SMART Domains Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677

DomainStartEndE-ValueType
RA 15 114 3.7e-30 SMART
MYSc 140 954 N/A SMART
IQ 955 977 1.2e-3 SMART
IQ 978 1000 1.6e-5 SMART
IQ 1001 1022 4.3e-5 SMART
IQ 1023 1045 8.4e-5 SMART
low complexity region 1050 1064 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
low complexity region 1211 1222 N/A INTRINSIC
low complexity region 1232 1246 N/A INTRINSIC
Blast:MYSc 1247 1323 3e-19 BLAST
low complexity region 1348 1359 N/A INTRINSIC
coiled coil region 1563 1590 N/A INTRINSIC
C1 1591 1639 1.7e-14 SMART
RhoGAP 1668 1843 4.7e-71 SMART
coiled coil region 1901 1925 N/A INTRINSIC
low complexity region 1940 1952 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168839
SMART Domains Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677

DomainStartEndE-ValueType
RA 15 114 5.79e-28 SMART
MYSc 140 954 N/A SMART
IQ 955 977 2.46e-1 SMART
IQ 978 1000 3.35e-3 SMART
IQ 1001 1022 8.84e-3 SMART
IQ 1023 1045 1.77e-2 SMART
low complexity region 1050 1064 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
low complexity region 1211 1222 N/A INTRINSIC
low complexity region 1234 1257 N/A INTRINSIC
Blast:MYSc 1258 1334 3e-19 BLAST
low complexity region 1361 1372 N/A INTRINSIC
low complexity region 1581 1601 N/A INTRINSIC
C1 1605 1653 3.58e-12 SMART
RhoGAP 1682 1857 7.78e-69 SMART
coiled coil region 1915 1939 N/A INTRINSIC
low complexity region 1954 1966 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170242
AA Change: D2099G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: D2099G

DomainStartEndE-ValueType
RA 15 114 5.79e-28 SMART
MYSc 140 954 N/A SMART
IQ 955 977 2.46e-1 SMART
IQ 978 1000 3.35e-3 SMART
IQ 1001 1022 8.84e-3 SMART
IQ 1023 1045 1.77e-2 SMART
low complexity region 1050 1064 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
low complexity region 1211 1222 N/A INTRINSIC
low complexity region 1234 1257 N/A INTRINSIC
Blast:MYSc 1258 1334 3e-19 BLAST
low complexity region 1361 1372 N/A INTRINSIC
low complexity region 1581 1601 N/A INTRINSIC
C1 1605 1653 3.58e-12 SMART
RhoGAP 1682 1857 7.78e-69 SMART
coiled coil region 1931 1955 N/A INTRINSIC
low complexity region 1970 1982 N/A INTRINSIC
low complexity region 1992 2003 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212412
Predicted Effect probably benign
Transcript: ENSMUST00000212935
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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 family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants breed normal, but shows defect in macrophage motility and chemotaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,348,994 (GRCm38) probably null Het
1810032O08Rik A T 11: 116,672,664 (GRCm38) T27S possibly damaging Het
4930432K21Rik A T 8: 84,166,659 (GRCm38) I152F probably benign Het
9430015G10Rik T A 4: 156,123,559 (GRCm38) L112H probably damaging Het
Acaca T C 11: 84,243,384 (GRCm38) L441P probably damaging Het
Ank3 G A 10: 70,002,565 (GRCm38) R1566K possibly damaging Het
Arsj A T 3: 126,438,657 (GRCm38) I351F probably damaging Het
Atp6v1b2 A G 8: 69,107,620 (GRCm38) T373A probably damaging Het
Atr C A 9: 95,905,813 (GRCm38) N1486K probably benign Het
Avl9 T C 6: 56,753,839 (GRCm38) S583P probably damaging Het
Bptf A T 11: 107,073,699 (GRCm38) D1493E probably benign Het
C2cd2l T C 9: 44,313,772 (GRCm38) E548G probably damaging Het
Capn3 G A 2: 120,477,025 (GRCm38) R15Q probably benign Het
Ccl3 A G 11: 83,649,213 (GRCm38) F22S probably benign Het
Clcf1 T C 19: 4,222,096 (GRCm38) F69S probably damaging Het
Col13a1 T C 10: 61,851,116 (GRCm38) E170G probably damaging Het
Dhx29 T A 13: 112,946,879 (GRCm38) F489L probably damaging Het
Dhx8 A T 11: 101,740,751 (GRCm38) N390I probably damaging Het
Dkk1 T A 19: 30,548,789 (GRCm38) Y135F probably benign Het
Edil3 G T 13: 89,319,713 (GRCm38) V446F probably damaging Het
Epha5 T A 5: 84,331,866 (GRCm38) E93V probably damaging Het
Epsti1 C T 14: 77,963,664 (GRCm38) T196I possibly damaging Het
Fras1 T C 5: 96,728,535 (GRCm38) S2376P possibly damaging Het
Frem2 A G 3: 53,652,490 (GRCm38) V1532A probably benign Het
Fsip2 T A 2: 82,988,095 (GRCm38) M4724K probably benign Het
Gcat T A 15: 79,043,073 (GRCm38) L238Q probably damaging Het
Gimap6 T C 6: 48,702,275 (GRCm38) K276E probably benign Het
Gjb5 T A 4: 127,355,929 (GRCm38) I141F probably benign Het
Glt6d1 T C 2: 25,814,180 (GRCm38) I7V probably benign Het
Gm37596 A G 3: 93,692,687 (GRCm38) F125S probably benign Het
Gm5771 C T 6: 41,394,671 (GRCm38) P17L probably benign Het
Gm6169 C A 13: 97,099,121 (GRCm38) L39F probably damaging Het
Gtf2h5 G A 17: 6,084,524 (GRCm38) G30R probably damaging Het
Herc6 C A 6: 57,618,684 (GRCm38) T449K probably benign Het
Hpn A T 7: 31,099,262 (GRCm38) Y132N probably damaging Het
Hpx A T 7: 105,595,148 (GRCm38) M190K probably benign Het
Inf2 A G 12: 112,611,728 (GRCm38) H1151R unknown Het
Krt74 A G 15: 101,760,579 (GRCm38) noncoding transcript Het
Loxl3 G A 6: 83,049,882 (GRCm38) S564N probably benign Het
Map7 T A 10: 20,267,359 (GRCm38) V418E unknown Het
Mrpl37 T C 4: 107,064,391 (GRCm38) N214D probably benign Het
Mthfr T C 4: 148,055,466 (GRCm38) Y656H probably damaging Het
Nktr T A 9: 121,749,417 (GRCm38) C825* probably null Het
Nomo1 A G 7: 46,076,157 (GRCm38) E1029G probably benign Het
Nup133 T C 8: 123,906,281 (GRCm38) D1037G probably benign Het
Olfr1271 A G 2: 90,265,615 (GRCm38) F272L probably damaging Het
Olfr153 T C 2: 87,532,834 (GRCm38) L267P probably benign Het
Pcdhb14 T A 18: 37,448,996 (GRCm38) V385D possibly damaging Het
Pik3c2g T C 6: 139,737,007 (GRCm38) L38P probably damaging Het
Pkd1 A T 17: 24,569,371 (GRCm38) D701V probably damaging Het
Pnpla6 A G 8: 3,537,478 (GRCm38) T1070A probably damaging Het
Ppl T C 16: 5,106,055 (GRCm38) D185G probably benign Het
Prune1 A T 3: 95,258,178 (GRCm38) L261Q probably damaging Het
Qser1 A T 2: 104,778,196 (GRCm38) L1444I probably damaging Het
Serpina6 A C 12: 103,654,467 (GRCm38) C8G probably damaging Het
Sla2 A T 2: 156,874,999 (GRCm38) D180E probably benign Het
Slc4a4 C T 5: 89,028,244 (GRCm38) L25F probably damaging Het
Tbx3 A G 5: 119,678,731 (GRCm38) K311R possibly damaging Het
Thbs2 A T 17: 14,689,837 (GRCm38) C167S probably damaging Het
Trak1 T A 9: 121,472,307 (GRCm38) C710S possibly damaging Het
Tsks G A 7: 44,953,784 (GRCm38) E337K probably damaging Het
Vcpip1 A G 1: 9,746,379 (GRCm38) I593T probably damaging Het
Vmn2r118 A G 17: 55,592,765 (GRCm38) I713T possibly damaging Het
Vmn2r23 C T 6: 123,713,074 (GRCm38) T303M probably damaging Het
Vmn2r68 A T 7: 85,233,770 (GRCm38) M258K probably benign Het
Vmn2r76 A G 7: 86,245,994 (GRCm38) probably null Het
Wap A G 11: 6,638,609 (GRCm38) I5T possibly damaging Het
Zfp235 A C 7: 24,142,151 (GRCm38) H665P probably damaging Het
Other mutations in Myo9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Myo9b APN 8 71,348,735 (GRCm38) missense probably benign
IGL01020:Myo9b APN 8 71,352,000 (GRCm38) missense probably benign
IGL01479:Myo9b APN 8 71,359,342 (GRCm38) missense probably damaging 1.00
IGL01704:Myo9b APN 8 71,359,642 (GRCm38) missense probably damaging 0.98
IGL01761:Myo9b APN 8 71,349,152 (GRCm38) missense probably damaging 0.96
IGL01766:Myo9b APN 8 71,290,517 (GRCm38) missense probably damaging 1.00
IGL01834:Myo9b APN 8 71,355,257 (GRCm38) missense possibly damaging 0.93
IGL01834:Myo9b APN 8 71,356,318 (GRCm38) missense probably damaging 1.00
IGL01838:Myo9b APN 8 71,334,390 (GRCm38) missense probably damaging 0.99
IGL02318:Myo9b APN 8 71,354,124 (GRCm38) missense probably damaging 0.98
IGL02333:Myo9b APN 8 71,358,993 (GRCm38) missense possibly damaging 0.65
IGL02340:Myo9b APN 8 71,291,045 (GRCm38) missense probably damaging 1.00
IGL02514:Myo9b APN 8 71,291,006 (GRCm38) missense probably damaging 1.00
IGL02593:Myo9b APN 8 71,290,773 (GRCm38) missense probably damaging 1.00
IGL03075:Myo9b APN 8 71,354,527 (GRCm38) missense probably damaging 1.00
IGL03332:Myo9b APN 8 71,348,774 (GRCm38) missense possibly damaging 0.78
avantgarde UTSW 8 71,344,162 (GRCm38) missense probably damaging 1.00
Freaky UTSW 8 71,290,819 (GRCm38) missense probably damaging 1.00
iconoclastic UTSW 8 71,290,475 (GRCm38) missense probably benign 0.37
unconventional UTSW 8 71,348,597 (GRCm38) missense probably benign 0.00
PIT4418001:Myo9b UTSW 8 71,322,947 (GRCm38) missense probably damaging 1.00
PIT4651001:Myo9b UTSW 8 71,342,812 (GRCm38) missense possibly damaging 0.83
R0023:Myo9b UTSW 8 71,333,768 (GRCm38) missense probably damaging 1.00
R0103:Myo9b UTSW 8 71,323,849 (GRCm38) splice site probably benign
R0103:Myo9b UTSW 8 71,323,849 (GRCm38) splice site probably benign
R0144:Myo9b UTSW 8 71,346,043 (GRCm38) missense probably damaging 1.00
R0207:Myo9b UTSW 8 71,355,225 (GRCm38) splice site probably benign
R0226:Myo9b UTSW 8 71,353,832 (GRCm38) missense probably damaging 1.00
R0227:Myo9b UTSW 8 71,344,162 (GRCm38) missense probably damaging 1.00
R0244:Myo9b UTSW 8 71,321,813 (GRCm38) missense probably damaging 1.00
R0277:Myo9b UTSW 8 71,355,952 (GRCm38) splice site probably benign
R0362:Myo9b UTSW 8 71,347,770 (GRCm38) missense probably damaging 1.00
R0689:Myo9b UTSW 8 71,330,756 (GRCm38) missense probably damaging 1.00
R0844:Myo9b UTSW 8 71,290,475 (GRCm38) missense probably benign 0.37
R1051:Myo9b UTSW 8 71,355,822 (GRCm38) missense probably damaging 1.00
R1469:Myo9b UTSW 8 71,291,036 (GRCm38) missense probably damaging 1.00
R1469:Myo9b UTSW 8 71,291,036 (GRCm38) missense probably damaging 1.00
R1526:Myo9b UTSW 8 71,355,764 (GRCm38) missense probably damaging 1.00
R1544:Myo9b UTSW 8 71,290,976 (GRCm38) missense probably damaging 1.00
R1565:Myo9b UTSW 8 71,315,192 (GRCm38) missense possibly damaging 0.46
R1645:Myo9b UTSW 8 71,322,978 (GRCm38) missense probably damaging 1.00
R1745:Myo9b UTSW 8 71,354,047 (GRCm38) missense probably damaging 1.00
R1820:Myo9b UTSW 8 71,333,358 (GRCm38) missense probably damaging 1.00
R2037:Myo9b UTSW 8 71,290,866 (GRCm38) missense probably damaging 1.00
R2050:Myo9b UTSW 8 71,290,550 (GRCm38) missense probably damaging 1.00
R2056:Myo9b UTSW 8 71,359,690 (GRCm38) missense possibly damaging 0.78
R2129:Myo9b UTSW 8 71,333,699 (GRCm38) missense probably damaging 1.00
R2423:Myo9b UTSW 8 71,327,940 (GRCm38) missense probably damaging 1.00
R2869:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2869:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2871:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2871:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2872:Myo9b UTSW 8 71,290,966 (GRCm38) missense probably benign 0.01
R2872:Myo9b UTSW 8 71,290,966 (GRCm38) missense probably benign 0.01
R2873:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2874:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2920:Myo9b UTSW 8 71,325,857 (GRCm38) missense probably damaging 0.98
R2926:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2939:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R2940:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R3033:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R3040:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R3689:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R3691:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R3735:Myo9b UTSW 8 71,348,597 (GRCm38) missense probably benign 0.00
R4194:Myo9b UTSW 8 71,359,624 (GRCm38) missense possibly damaging 0.71
R4258:Myo9b UTSW 8 71,355,765 (GRCm38) missense probably damaging 1.00
R4457:Myo9b UTSW 8 71,290,999 (GRCm38) missense probably damaging 1.00
R4478:Myo9b UTSW 8 71,291,081 (GRCm38) missense probably damaging 1.00
R4496:Myo9b UTSW 8 71,334,337 (GRCm38) missense probably benign 0.01
R4544:Myo9b UTSW 8 71,327,941 (GRCm38) missense probably damaging 1.00
R4580:Myo9b UTSW 8 71,315,135 (GRCm38) missense probably damaging 1.00
R4736:Myo9b UTSW 8 71,356,592 (GRCm38) missense probably damaging 1.00
R5068:Myo9b UTSW 8 71,349,055 (GRCm38) missense probably damaging 1.00
R5124:Myo9b UTSW 8 71,355,839 (GRCm38) missense probably damaging 1.00
R5194:Myo9b UTSW 8 71,349,089 (GRCm38) missense probably benign 0.01
R5296:Myo9b UTSW 8 71,333,388 (GRCm38) missense possibly damaging 0.69
R5528:Myo9b UTSW 8 71,323,274 (GRCm38) missense probably benign 0.06
R5677:Myo9b UTSW 8 71,343,686 (GRCm38) missense probably damaging 1.00
R5680:Myo9b UTSW 8 71,290,372 (GRCm38) missense probably benign 0.00
R5982:Myo9b UTSW 8 71,348,396 (GRCm38) missense probably benign 0.05
R6344:Myo9b UTSW 8 71,327,914 (GRCm38) missense probably damaging 1.00
R6352:Myo9b UTSW 8 71,348,411 (GRCm38) missense probably benign
R6352:Myo9b UTSW 8 71,348,410 (GRCm38) missense probably benign 0.16
R6411:Myo9b UTSW 8 71,322,955 (GRCm38) nonsense probably null
R6425:Myo9b UTSW 8 71,333,628 (GRCm38) missense probably damaging 1.00
R6505:Myo9b UTSW 8 71,355,857 (GRCm38) missense possibly damaging 0.88
R6743:Myo9b UTSW 8 71,352,159 (GRCm38) splice site probably null
R6811:Myo9b UTSW 8 71,356,578 (GRCm38) missense probably damaging 1.00
R6813:Myo9b UTSW 8 71,323,305 (GRCm38) missense probably damaging 1.00
R6954:Myo9b UTSW 8 71,290,819 (GRCm38) missense probably damaging 1.00
R7124:Myo9b UTSW 8 71,333,701 (GRCm38) nonsense probably null
R7255:Myo9b UTSW 8 71,290,891 (GRCm38) missense probably damaging 1.00
R7293:Myo9b UTSW 8 71,325,905 (GRCm38) missense probably benign 0.00
R7342:Myo9b UTSW 8 71,355,774 (GRCm38) missense probably damaging 1.00
R7451:Myo9b UTSW 8 71,352,188 (GRCm38) missense probably benign 0.28
R7482:Myo9b UTSW 8 71,342,798 (GRCm38) missense probably benign 0.00
R7508:Myo9b UTSW 8 71,354,801 (GRCm38) missense probably benign 0.00
R7957:Myo9b UTSW 8 71,354,761 (GRCm38) missense probably benign 0.12
R8062:Myo9b UTSW 8 71,321,813 (GRCm38) missense probably damaging 0.99
R8108:Myo9b UTSW 8 71,348,342 (GRCm38) missense probably damaging 0.99
R8197:Myo9b UTSW 8 71,290,963 (GRCm38) missense probably damaging 1.00
R8274:Myo9b UTSW 8 71,359,836 (GRCm38) missense probably benign 0.00
R8686:Myo9b UTSW 8 71,334,322 (GRCm38) missense probably benign 0.01
R8731:Myo9b UTSW 8 71,353,842 (GRCm38) critical splice donor site probably null
R8924:Myo9b UTSW 8 71,349,031 (GRCm38) missense probably benign
R9056:Myo9b UTSW 8 71,352,262 (GRCm38) missense probably benign 0.17
R9117:Myo9b UTSW 8 71,347,807 (GRCm38) missense probably benign 0.03
R9151:Myo9b UTSW 8 71,355,227 (GRCm38) splice site probably benign
R9315:Myo9b UTSW 8 71,349,167 (GRCm38) missense possibly damaging 0.54
R9332:Myo9b UTSW 8 71,359,602 (GRCm38) missense probably benign 0.07
R9364:Myo9b UTSW 8 71,355,839 (GRCm38) missense probably damaging 1.00
R9569:Myo9b UTSW 8 71,358,985 (GRCm38) missense probably benign
R9581:Myo9b UTSW 8 71,359,899 (GRCm38) missense probably benign 0.19
R9600:Myo9b UTSW 8 71,290,431 (GRCm38) missense possibly damaging 0.80
X0066:Myo9b UTSW 8 71,323,898 (GRCm38) missense probably damaging 1.00
Z1177:Myo9b UTSW 8 71,290,709 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGGTCAGAGTGAAGACACC -3'
(R):5'- CTTCTCAGAAAGTGAAGGCCAG -3'

Sequencing Primer
(F):5'- TGAAGACACCTCGGAGGACC -3'
(R):5'- AGTGAAGGCCAGCTCCACAG -3'
Posted On 2016-11-09