Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02514:Myo9b'

296693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

IGL02514

Quality Score

Status

Chromosome

Chromosomal Location

71725358-71813357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71743650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 237 (I237T)

Ref Sequence

ENSEMBL: ENSMUSP00000148316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071935] [ENSMUST00000168839] [ENSMUST00000170242] [ENSMUST00000212935]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071935
AA Change: I237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: I237T

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000168839
AA Change: I237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: I237T

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000170242
AA Change: I237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: I237T

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000212935
AA Change: I237T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,909 (GRCm39)	C114*	probably null	Het
4933421I07Rik	A	G	7: 42,096,981 (GRCm39)	M110T	probably damaging	Het
Amer1	A	G	X: 94,470,117 (GRCm39)	V667A	possibly damaging	Het
Casr	C	T	16: 36,320,687 (GRCm39)	G487E	probably damaging	Het
Catsperd	G	A	17: 56,968,271 (GRCm39)	G552D	probably damaging	Het
Ceacam3	A	G	7: 16,896,906 (GRCm39)	D624G	possibly damaging	Het
Celsr2	A	G	3: 108,304,826 (GRCm39)	V2208A	probably benign	Het
Cibar1	T	G	4: 12,164,080 (GRCm39)		probably benign	Het
Clca4a	G	A	3: 144,660,832 (GRCm39)	S664F	probably damaging	Het
Ddx23	A	T	15: 98,556,199 (GRCm39)	S40T	unknown	Het
Dhodh	G	A	8: 110,332,896 (GRCm39)	R58*	probably null	Het
Dhx36	A	G	3: 62,408,319 (GRCm39)	L173S	possibly damaging	Het
Dnaaf5	C	T	5: 139,159,872 (GRCm39)		probably benign	Het
Dnah3	T	C	7: 119,565,470 (GRCm39)	D2546G	probably damaging	Het
Eef2	T	G	10: 81,015,427 (GRCm39)	I316S	probably benign	Het
Efcab6	T	C	15: 83,917,143 (GRCm39)	D139G	possibly damaging	Het
Efcab6	A	T	15: 83,755,512 (GRCm39)		probably benign	Het
Eif4g3	T	A	4: 137,853,505 (GRCm39)	I357N	possibly damaging	Het
Elovl2	G	A	13: 41,348,247 (GRCm39)	T44M	probably benign	Het
Fbln1	T	A	15: 85,128,463 (GRCm39)	C553*	probably null	Het
Fip1l1	T	C	5: 74,731,813 (GRCm39)	V310A	probably damaging	Het
Gast	A	G	11: 100,227,718 (GRCm39)	D100G	probably benign	Het
Gk	G	A	X: 84,756,970 (GRCm39)		probably benign	Het
Gm1330	G	A	2: 148,841,305 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,296,887 (GRCm39)	T4355K	probably benign	Het
Ipo7	T	C	7: 109,648,035 (GRCm39)	V639A	possibly damaging	Het
Lrrc7	T	C	3: 157,865,929 (GRCm39)	M1271V	probably damaging	Het
Msantd1	T	A	5: 35,078,887 (GRCm39)	S141T	probably damaging	Het
Or10ag59	G	A	2: 87,405,537 (GRCm39)	M36I	probably benign	Het
Or13a21	A	T	7: 139,999,507 (GRCm39)	Y60N	probably damaging	Het
Or2w3	T	C	11: 58,556,469 (GRCm39)	F28S	probably damaging	Het
Or4k40	A	C	2: 111,251,117 (GRCm39)	Y60D	probably damaging	Het
Pan2	A	T	10: 128,146,610 (GRCm39)	M416L	possibly damaging	Het
Pank4	T	C	4: 155,054,922 (GRCm39)	F209L	probably damaging	Het
Pcdhb13	A	T	18: 37,576,044 (GRCm39)	I141L	possibly damaging	Het
Pik3r2	A	G	8: 71,223,236 (GRCm39)	Y422H	probably benign	Het
Pramel14	T	C	4: 143,719,772 (GRCm39)	K198E	probably benign	Het
Prdm4	A	T	10: 85,743,781 (GRCm39)	I158N	probably damaging	Het
Prl	T	G	13: 27,243,377 (GRCm39)	L14R	probably damaging	Het
Rabl6	C	A	2: 25,498,188 (GRCm39)	A23S	probably damaging	Het
Rbm15b	T	A	9: 106,762,176 (GRCm39)	H664L	probably damaging	Het
Rhobtb1	T	A	10: 69,125,471 (GRCm39)	H618Q	probably benign	Het
Slc15a1	T	C	14: 121,724,452 (GRCm39)	K140R	probably damaging	Het
Slc6a17	A	G	3: 107,402,993 (GRCm39)	S145P	possibly damaging	Het
Snx31	T	C	15: 36,525,728 (GRCm39)	T324A	probably damaging	Het
Spatc1l	T	C	10: 76,405,490 (GRCm39)		probably benign	Het
Taar7b	A	G	10: 23,876,882 (GRCm39)	N349S	probably benign	Het
Tbx19	T	C	1: 164,981,273 (GRCm39)	I74V	probably benign	Het
Tmtc2	G	A	10: 105,025,960 (GRCm39)	T836I	possibly damaging	Het
Vmn2r72	C	A	7: 85,387,907 (GRCm39)	M552I	possibly damaging	Het
Vsig10l	A	G	7: 43,113,338 (GRCm39)	T199A	probably benign	Het
Washc4	A	T	10: 83,405,947 (GRCm39)	E481V	probably damaging	Het
Zc3h15	T	A	2: 83,483,725 (GRCm39)	N33K	probably damaging	Het

Other mutations in Myo9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Myo9b	APN	8	71,801,379 (GRCm39)	missense	probably benign
IGL01020:Myo9b	APN	8	71,804,644 (GRCm39)	missense	probably benign
IGL01479:Myo9b	APN	8	71,811,986 (GRCm39)	missense	probably damaging	1.00
IGL01704:Myo9b	APN	8	71,812,286 (GRCm39)	missense	probably damaging	0.98
IGL01761:Myo9b	APN	8	71,801,796 (GRCm39)	missense	probably damaging	0.96
IGL01766:Myo9b	APN	8	71,743,161 (GRCm39)	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71,807,901 (GRCm39)	missense	possibly damaging	0.93
IGL01834:Myo9b	APN	8	71,808,962 (GRCm39)	missense	probably damaging	1.00
IGL01838:Myo9b	APN	8	71,787,034 (GRCm39)	missense	probably damaging	0.99
IGL02318:Myo9b	APN	8	71,806,768 (GRCm39)	missense	probably damaging	0.98
IGL02333:Myo9b	APN	8	71,811,637 (GRCm39)	missense	possibly damaging	0.65
IGL02340:Myo9b	APN	8	71,743,689 (GRCm39)	missense	probably damaging	1.00
IGL02593:Myo9b	APN	8	71,743,417 (GRCm39)	missense	probably damaging	1.00
IGL03075:Myo9b	APN	8	71,807,171 (GRCm39)	missense	probably damaging	1.00
IGL03332:Myo9b	APN	8	71,801,418 (GRCm39)	missense	possibly damaging	0.78
avantgarde	UTSW	8	71,796,806 (GRCm39)	missense	probably damaging	1.00
Freaky	UTSW	8	71,743,463 (GRCm39)	missense	probably damaging	1.00
iconoclastic	UTSW	8	71,743,119 (GRCm39)	missense	probably benign	0.37
unconventional	UTSW	8	71,801,241 (GRCm39)	missense	probably benign	0.00
PIT4418001:Myo9b	UTSW	8	71,775,591 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Myo9b	UTSW	8	71,795,456 (GRCm39)	missense	possibly damaging	0.83
R0023:Myo9b	UTSW	8	71,786,412 (GRCm39)	missense	probably damaging	1.00
R0103:Myo9b	UTSW	8	71,776,493 (GRCm39)	splice site	probably benign
R0103:Myo9b	UTSW	8	71,776,493 (GRCm39)	splice site	probably benign
R0144:Myo9b	UTSW	8	71,798,687 (GRCm39)	missense	probably damaging	1.00
R0207:Myo9b	UTSW	8	71,807,869 (GRCm39)	splice site	probably benign
R0226:Myo9b	UTSW	8	71,806,476 (GRCm39)	missense	probably damaging	1.00
R0227:Myo9b	UTSW	8	71,796,806 (GRCm39)	missense	probably damaging	1.00
R0244:Myo9b	UTSW	8	71,774,457 (GRCm39)	missense	probably damaging	1.00
R0277:Myo9b	UTSW	8	71,808,596 (GRCm39)	splice site	probably benign
R0362:Myo9b	UTSW	8	71,800,414 (GRCm39)	missense	probably damaging	1.00
R0689:Myo9b	UTSW	8	71,783,400 (GRCm39)	missense	probably damaging	1.00
R0844:Myo9b	UTSW	8	71,743,119 (GRCm39)	missense	probably benign	0.37
R1051:Myo9b	UTSW	8	71,808,466 (GRCm39)	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71,743,680 (GRCm39)	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71,743,680 (GRCm39)	missense	probably damaging	1.00
R1526:Myo9b	UTSW	8	71,808,408 (GRCm39)	missense	probably damaging	1.00
R1544:Myo9b	UTSW	8	71,743,620 (GRCm39)	missense	probably damaging	1.00
R1565:Myo9b	UTSW	8	71,767,836 (GRCm39)	missense	possibly damaging	0.46
R1645:Myo9b	UTSW	8	71,775,622 (GRCm39)	missense	probably damaging	1.00
R1745:Myo9b	UTSW	8	71,806,691 (GRCm39)	missense	probably damaging	1.00
R1820:Myo9b	UTSW	8	71,786,002 (GRCm39)	missense	probably damaging	1.00
R2037:Myo9b	UTSW	8	71,743,510 (GRCm39)	missense	probably damaging	1.00
R2050:Myo9b	UTSW	8	71,743,194 (GRCm39)	missense	probably damaging	1.00
R2056:Myo9b	UTSW	8	71,812,334 (GRCm39)	missense	possibly damaging	0.78
R2129:Myo9b	UTSW	8	71,786,343 (GRCm39)	missense	probably damaging	1.00
R2423:Myo9b	UTSW	8	71,780,584 (GRCm39)	missense	probably damaging	1.00
R2869:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2869:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71,743,610 (GRCm39)	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71,743,610 (GRCm39)	missense	probably benign	0.01
R2873:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2874:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2920:Myo9b	UTSW	8	71,778,501 (GRCm39)	missense	probably damaging	0.98
R2926:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2939:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R2940:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3033:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3040:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3689:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3691:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R3735:Myo9b	UTSW	8	71,801,241 (GRCm39)	missense	probably benign	0.00
R4194:Myo9b	UTSW	8	71,812,268 (GRCm39)	missense	possibly damaging	0.71
R4258:Myo9b	UTSW	8	71,808,409 (GRCm39)	missense	probably damaging	1.00
R4457:Myo9b	UTSW	8	71,743,643 (GRCm39)	missense	probably damaging	1.00
R4478:Myo9b	UTSW	8	71,743,725 (GRCm39)	missense	probably damaging	1.00
R4496:Myo9b	UTSW	8	71,786,981 (GRCm39)	missense	probably benign	0.01
R4544:Myo9b	UTSW	8	71,780,585 (GRCm39)	missense	probably damaging	1.00
R4580:Myo9b	UTSW	8	71,767,779 (GRCm39)	missense	probably damaging	1.00
R4736:Myo9b	UTSW	8	71,809,236 (GRCm39)	missense	probably damaging	1.00
R5068:Myo9b	UTSW	8	71,801,699 (GRCm39)	missense	probably damaging	1.00
R5124:Myo9b	UTSW	8	71,808,483 (GRCm39)	missense	probably damaging	1.00
R5194:Myo9b	UTSW	8	71,801,733 (GRCm39)	missense	probably benign	0.01
R5296:Myo9b	UTSW	8	71,786,032 (GRCm39)	missense	possibly damaging	0.69
R5528:Myo9b	UTSW	8	71,775,918 (GRCm39)	missense	probably benign	0.06
R5664:Myo9b	UTSW	8	71,812,526 (GRCm39)	missense	probably benign	0.13
R5677:Myo9b	UTSW	8	71,796,330 (GRCm39)	missense	probably damaging	1.00
R5680:Myo9b	UTSW	8	71,743,016 (GRCm39)	missense	probably benign	0.00
R5982:Myo9b	UTSW	8	71,801,040 (GRCm39)	missense	probably benign	0.05
R6344:Myo9b	UTSW	8	71,780,558 (GRCm39)	missense	probably damaging	1.00
R6352:Myo9b	UTSW	8	71,801,055 (GRCm39)	missense	probably benign
R6352:Myo9b	UTSW	8	71,801,054 (GRCm39)	missense	probably benign	0.16
R6411:Myo9b	UTSW	8	71,775,599 (GRCm39)	nonsense	probably null
R6425:Myo9b	UTSW	8	71,786,272 (GRCm39)	missense	probably damaging	1.00
R6505:Myo9b	UTSW	8	71,808,501 (GRCm39)	missense	possibly damaging	0.88
R6743:Myo9b	UTSW	8	71,804,803 (GRCm39)	splice site	probably null
R6811:Myo9b	UTSW	8	71,809,222 (GRCm39)	missense	probably damaging	1.00
R6813:Myo9b	UTSW	8	71,775,949 (GRCm39)	missense	probably damaging	1.00
R6954:Myo9b	UTSW	8	71,743,463 (GRCm39)	missense	probably damaging	1.00
R7124:Myo9b	UTSW	8	71,786,345 (GRCm39)	nonsense	probably null
R7255:Myo9b	UTSW	8	71,743,535 (GRCm39)	missense	probably damaging	1.00
R7293:Myo9b	UTSW	8	71,778,549 (GRCm39)	missense	probably benign	0.00
R7342:Myo9b	UTSW	8	71,808,418 (GRCm39)	missense	probably damaging	1.00
R7451:Myo9b	UTSW	8	71,804,832 (GRCm39)	missense	probably benign	0.28
R7482:Myo9b	UTSW	8	71,795,442 (GRCm39)	missense	probably benign	0.00
R7508:Myo9b	UTSW	8	71,807,445 (GRCm39)	missense	probably benign	0.00
R7957:Myo9b	UTSW	8	71,807,405 (GRCm39)	missense	probably benign	0.12
R8062:Myo9b	UTSW	8	71,774,457 (GRCm39)	missense	probably damaging	0.99
R8108:Myo9b	UTSW	8	71,800,986 (GRCm39)	missense	probably damaging	0.99
R8197:Myo9b	UTSW	8	71,743,607 (GRCm39)	missense	probably damaging	1.00
R8274:Myo9b	UTSW	8	71,812,480 (GRCm39)	missense	probably benign	0.00
R8686:Myo9b	UTSW	8	71,786,966 (GRCm39)	missense	probably benign	0.01
R8731:Myo9b	UTSW	8	71,806,486 (GRCm39)	critical splice donor site	probably null
R8924:Myo9b	UTSW	8	71,801,675 (GRCm39)	missense	probably benign
R9056:Myo9b	UTSW	8	71,804,906 (GRCm39)	missense	probably benign	0.17
R9117:Myo9b	UTSW	8	71,800,451 (GRCm39)	missense	probably benign	0.03
R9151:Myo9b	UTSW	8	71,807,871 (GRCm39)	splice site	probably benign
R9315:Myo9b	UTSW	8	71,801,811 (GRCm39)	missense	possibly damaging	0.54
R9332:Myo9b	UTSW	8	71,812,246 (GRCm39)	missense	probably benign	0.07
R9364:Myo9b	UTSW	8	71,808,483 (GRCm39)	missense	probably damaging	1.00
R9569:Myo9b	UTSW	8	71,811,629 (GRCm39)	missense	probably benign
R9581:Myo9b	UTSW	8	71,812,543 (GRCm39)	missense	probably benign	0.19
R9600:Myo9b	UTSW	8	71,743,075 (GRCm39)	missense	possibly damaging	0.80
X0066:Myo9b	UTSW	8	71,776,542 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo9b	UTSW	8	71,743,353 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16