Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:Myo9b'

173822

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.770) question?

Stock #

R1645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71322978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 348 (E348G)

Ref Sequence

ENSEMBL: ENSMUSP00000071827 (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: E348G

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

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: E348G

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

possibly damaging
Transcript: ENSMUST00000168839
AA Change: E348G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: E348G

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

possibly damaging
Transcript: ENSMUST00000170242
AA Change: E348G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: E348G

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

possibly damaging
Transcript: ENSMUST00000212935
AA Change: E348G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,155,277 (GRCm38)	M1732V	probably benign	Het
Acvr1	A	T	2: 58,462,899 (GRCm38)	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,865,608 (GRCm38)	V130D	probably damaging	Het
Anapc1	A	G	2: 128,658,246 (GRCm38)		probably null	Het
Asap1	A	T	15: 64,089,475 (GRCm38)	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,387,167 (GRCm38)	D308V	probably damaging	Het
Brca1	G	A	11: 101,510,053 (GRCm38)	H1468Y	probably benign	Het
C2cd5	A	G	6: 143,050,126 (GRCm38)	C421R	probably damaging	Het
C4b	A	G	17: 34,740,597 (GRCm38)	S363P	probably damaging	Het
Camk2b	A	T	11: 5,972,719 (GRCm38)	C484S	probably damaging	Het
Cby2	C	A	14: 75,583,649 (GRCm38)	R212L	probably benign	Het
Ccny	T	C	18: 9,345,199 (GRCm38)	T192A	probably damaging	Het
Chl1	G	T	6: 103,683,180 (GRCm38)	A356S	probably benign	Het
Dst	T	A	1: 34,225,722 (GRCm38)	Y4850N	probably damaging	Het
Dyrk4	C	A	6: 126,894,793 (GRCm38)	E171*	probably null	Het
Entrep3	C	A	3: 89,186,847 (GRCm38)	D322E	possibly damaging	Het
Ephb1	A	G	9: 101,927,559 (GRCm38)	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,499,795 (GRCm38)	N304K	probably benign	Het
Fras1	A	T	5: 96,700,586 (GRCm38)	D1820V	possibly damaging	Het
Gabbr2	A	T	4: 46,664,963 (GRCm38)		probably null	Het
Gm6358	T	C	16: 89,141,079 (GRCm38)	W69R	unknown	Het
Ikbkb	C	A	8: 22,691,066 (GRCm38)	S127I	probably damaging	Het
Impa1	A	T	3: 10,328,441 (GRCm38)	M48K	possibly damaging	Het
Klra2	A	T	6: 131,243,894 (GRCm38)		probably null	Het
Lama1	A	T	17: 67,737,682 (GRCm38)	Y192F	probably benign	Het
Lama2	T	A	10: 27,368,985 (GRCm38)	T267S	probably damaging	Het
Mroh7	G	A	4: 106,720,668 (GRCm38)	T271I	probably benign	Het
Nrp2	C	T	1: 62,785,124 (GRCm38)	P796L	probably damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Or10al4	A	T	17: 37,726,338 (GRCm38)	T114S	probably benign	Het
Or51i1	A	G	7: 104,022,003 (GRCm38)	F105S	probably damaging	Het
Or9k7	T	A	10: 130,210,212 (GRCm38)	D306V	probably damaging	Het
P3h2	T	A	16: 25,997,232 (GRCm38)	H177L	probably damaging	Het
Pcdhb16	T	C	18: 37,479,370 (GRCm38)	I461T	probably benign	Het
Pdlim3	A	G	8: 45,896,748 (GRCm38)	I32V	probably benign	Het
Pigu	A	C	2: 155,328,678 (GRCm38)	Y143*	probably null	Het
Prkd3	A	C	17: 78,956,520 (GRCm38)		probably null	Het
Psrc1	C	T	3: 108,385,238 (GRCm38)	R116W	probably damaging	Het
Rab5b	A	G	10: 128,686,826 (GRCm38)	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,150,817 (GRCm38)	V403A	probably damaging	Het
Rbm47	G	T	5: 66,027,138 (GRCm38)	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939 (GRCm38)	I364M	probably damaging	Het
Ryr2	A	T	13: 11,718,482 (GRCm38)	C2271*	probably null	Het
Shcbp1	T	A	8: 4,749,645 (GRCm38)	Q277L	probably benign	Het
Sntg1	T	C	1: 8,803,931 (GRCm38)	T5A	probably benign	Het
Snx24	T	C	18: 53,389,562 (GRCm38)	F163S	probably benign	Het
Srp72	T	C	5: 76,998,278 (GRCm38)	V581A	probably benign	Het
Srrt	T	A	5: 137,302,139 (GRCm38)	K59*	probably null	Het
Tnrc6b	A	G	15: 80,882,958 (GRCm38)	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,754,352 (GRCm38)	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,346,218 (GRCm38)	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,182,987 (GRCm38)	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,613,889 (GRCm38)	T526A	probably benign	Het
Zfp532	C	A	18: 65,687,264 (GRCm38)	N973K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGCAGCAAACTGGTGTCAACTA -3'
(R):5'- GCTGGGAATGAATGGCTGCCTT -3'

Sequencing Primer
(F):5'- gattctcctgcctctgcc -3'
(R):5'- AATGAATGGCTGCCTTTGTGTG -3'

Posted On

2014-04-24