Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Myo9b'

662755

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

068579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R8731 (G1)

Quality Score

123.008

Status

Validated

Chromosome

Chromosomal Location

71725358-71813357 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 71806486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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 benign
Transcript: ENSMUST00000168839

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677

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 null
Transcript: ENSMUST00000170242

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677

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 benign
Transcript: ENSMUST00000212412

Predicted Effect

probably benign
Transcript: ENSMUST00000212935

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,932,367 (GRCm39)	D294V	probably benign	Het
Abcc8	T	G	7: 45,803,986 (GRCm39)	Y396S	probably damaging	Het
Ace	T	A	11: 105,861,426 (GRCm39)	F192I	possibly damaging	Het
Apeh	A	G	9: 107,964,422 (GRCm39)	S494P	probably benign	Het
Bod1	A	G	11: 31,619,242 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,800,006 (GRCm39)	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,892,788 (GRCm39)	D1450V	probably damaging	Het
Cdk5rap2	A	T	4: 70,163,747 (GRCm39)		probably benign	Het
Clip1	A	C	5: 123,752,756 (GRCm39)	S342A		Het
Cox10	A	G	11: 63,855,045 (GRCm39)	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,602,890 (GRCm39)		probably null	Het
Dcaf7	T	A	11: 105,945,548 (GRCm39)	M299K	possibly damaging	Het
Dffb	T	C	4: 154,059,101 (GRCm39)	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,844,535 (GRCm39)	M234V	possibly damaging	Het
Disp1	A	T	1: 182,869,072 (GRCm39)	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,571,157 (GRCm39)	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,607,018 (GRCm39)	V2565D	possibly damaging	Het
Fam227b	A	T	2: 125,968,898 (GRCm39)	Y59N	possibly damaging	Het
Gm21680	A	T	5: 26,173,230 (GRCm39)	V210D	probably damaging	Het
Gm57858	A	T	3: 36,089,434 (GRCm39)	N163K	probably benign	Het
Gnas	T	C	2: 174,126,699 (GRCm39)	V78A	probably benign	Het
Gpr179	T	C	11: 97,234,555 (GRCm39)	T509A	probably damaging	Het
Igfn1	A	G	1: 135,925,574 (GRCm39)	M60T	probably benign	Het
Llgl2	A	G	11: 115,742,016 (GRCm39)	Q686R	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk3	T	G	8: 86,085,634 (GRCm39)	E300A	probably benign	Het
Myo1b	A	C	1: 51,799,570 (GRCm39)		probably benign	Het
Nalcn	T	C	14: 123,837,266 (GRCm39)	I33V	probably benign	Het
Nsl1	A	G	1: 190,814,609 (GRCm39)	Y270C	probably damaging	Het
Or5af1	C	T	11: 58,722,268 (GRCm39)	A96V	probably benign	Het
Otulin	A	G	15: 27,608,928 (GRCm39)	M205T	probably benign	Het
Plch1	A	T	3: 63,605,059 (GRCm39)	V1615E	probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn3a	A	T	2: 65,298,507 (GRCm39)	Y1397*	probably null	Het
Scrib	A	T	15: 75,935,488 (GRCm39)	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,631,048 (GRCm39)	I56V	possibly damaging	Het
Spata7	T	A	12: 98,624,541 (GRCm39)	S148T	probably damaging	Het
Stk31	T	A	6: 49,415,435 (GRCm39)	L590Q	probably benign	Het
Tanc1	T	C	2: 59,673,596 (GRCm39)	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,310 (GRCm39)	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,629,363 (GRCm39)	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,024,404 (GRCm39)	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,589,447 (GRCm39)	L823*	probably null	Het
Vps11	T	C	9: 44,265,756 (GRCm39)	N508D	probably benign	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
IGL02514:Myo9b	APN	8	71,743,650 (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
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

Predicted Primers

PCR Primer
(F):5'- TGACCATAACCTGTGGACCAG -3'
(R):5'- ATCTGGTAGTTCTCCATCAGGTC -3'

Sequencing Primer
(F):5'- ATAACCTGTGGACCAGCCTCTC -3'
(R):5'- ATCAGGTCCTTGTAGCCTACATG -3'

Posted On

2021-03-08