Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Myo9b'

288133

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: 0.770) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71354124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1581 (E1581K)

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 damaging
Transcript: ENSMUST00000071935
AA Change: E1568K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: E1568K

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: E1581K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: E1581K

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: E1581K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: E1581K

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

unknown
Transcript: ENSMUST00000212412
AA Change: E376K

Predicted Effect

probably benign
Transcript: ENSMUST00000212935
AA Change: E1569K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,563,576 (GRCm38)	F116S	probably damaging	Het
2410089E03Rik	A	G	15: 8,175,025 (GRCm38)	K96E	probably damaging	Het
4930467E23Rik	T	C	8: 19,747,799 (GRCm38)		probably null	Het
Abhd18	G	A	3: 40,930,227 (GRCm38)		probably null	Het
Akr1c6	G	T	13: 4,438,497 (GRCm38)	C34F	probably benign	Het
Ankef1	T	A	2: 136,544,775 (GRCm38)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 5,019,294 (GRCm38)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,333,163 (GRCm38)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,259,331 (GRCm38)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,728,154 (GRCm38)	Y1323*	probably null	Het
Bsx	A	C	9: 40,874,221 (GRCm38)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,954,039 (GRCm38)	I410V	probably null	Het
Col20a1	A	G	2: 181,007,159 (GRCm38)	D945G	probably damaging	Het
Cox20	A	G	1: 178,322,478 (GRCm38)		probably null	Het
Cpne9	A	G	6: 113,293,738 (GRCm38)	D305G	possibly damaging	Het
Cyp2d12	A	G	15: 82,555,243 (GRCm38)	T33A	probably benign	Het
Dvl3	A	G	16: 20,523,743 (GRCm38)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,186,464 (GRCm38)	I1624V	possibly damaging	Het
Echs1	A	T	7: 140,111,710 (GRCm38)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,138,719 (GRCm38)	N358K	probably benign	Het
Eml4	A	G	17: 83,441,366 (GRCm38)	I230V	probably benign	Het
Fut10	A	G	8: 31,236,258 (GRCm38)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,162,975 (GRCm38)	N401K	probably damaging	Het
Gm4788	T	A	1: 139,781,097 (GRCm38)	E24D	probably benign	Het
Gm4795	C	T	10: 45,006,639 (GRCm38)		noncoding transcript	Het
Gm5592	C	A	7: 41,286,788 (GRCm38)	T238N	probably benign	Het
Gm9892	T	C	8: 52,196,225 (GRCm38)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm38)	M134I	possibly damaging	Het
Grk3	A	G	5: 112,937,803 (GRCm38)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,214,650 (GRCm38)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,385,238 (GRCm38)		probably null	Het
Inpp4a	T	C	1: 37,368,303 (GRCm38)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,988,926 (GRCm38)	V635I	probably damaging	Het
Lmo7	C	T	14: 101,900,066 (GRCm38)		probably benign	Het
Luc7l3	C	T	11: 94,292,993 (GRCm38)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,158,741 (GRCm38)	I219S	probably benign	Het
Nfs1	T	A	2: 156,124,271 (GRCm38)	Q458L	probably damaging	Het
Numb	A	T	12: 83,831,918 (GRCm38)		probably null	Het
Nxf1	G	A	19: 8,764,150 (GRCm38)		probably null	Het
Olfr134	G	T	17: 38,175,686 (GRCm38)	V201L	probably benign	Het
Olfr67	A	G	7: 103,788,268 (GRCm38)	V3A	probably benign	Het
Pde2a	A	T	7: 101,503,343 (GRCm38)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 109,939,873 (GRCm38)	L1011F	probably benign	Het
Prss27	G	T	17: 24,045,597 (GRCm38)	V245L	probably benign	Het
Rbm7	T	C	9: 48,494,111 (GRCm38)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,036,970 (GRCm38)	I97V	possibly damaging	Het
Ric3	T	C	7: 109,048,080 (GRCm38)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm38)		probably benign	Het
Sall2	T	C	14: 52,315,565 (GRCm38)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,995,541 (GRCm38)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,073,239 (GRCm38)	A281T	probably damaging	Het
Spta1	A	G	1: 174,174,463 (GRCm38)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,763,584 (GRCm38)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,499,782 (GRCm38)	V156E	probably benign	Het
Tmem206	A	G	1: 191,348,408 (GRCm38)	E275G	possibly damaging	Het
Tnfaip3	T	G	10: 19,004,467 (GRCm38)	R617S	probably benign	Het
Traf3	A	G	12: 111,237,597 (GRCm38)	M7V	probably benign	Het
Ubr3	T	A	2: 69,979,397 (GRCm38)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,741,836 (GRCm38)	V716A	probably benign	Het

Other mutations in Myo9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5664:Myo9b	UTSW	8	71,359,882 (GRCm38)	missense	probably benign	0.13
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

Posted On

2015-04-16