Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Myo9b'

706927

Institutional Source

Beutler Lab

Gene Symbol

Myo9b

Ensembl Gene

ENSMUSG00000004677

Gene Name

myosin IXb

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71359602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 2006 (S2006G)

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 benign
Transcript: ENSMUST00000170242
AA Change: S2006G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: S2006G

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: 99.7%
20x: 99.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,050,840	D1485N		Het
Ankrd55	T	G	13: 112,323,143	D90E	probably damaging	Het
Arid1b	C	A	17: 4,995,309	P124Q	unknown	Het
Atxn2	C	T	5: 121,785,362	P698L	probably damaging	Het
B020004J07Rik	C	T	4: 101,837,947	V56M	probably damaging	Het
Bend7	T	C	2: 4,752,720	V191A	probably benign	Het
C2cd4a	T	G	9: 67,831,497	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,092,714	Q830*	probably null	Het
Camta1	T	C	4: 151,144,017	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,773,045	S443P	probably benign	Het
Cass4	T	G	2: 172,427,886	F629L	probably benign	Het
Ccdc149	T	A	5: 52,405,057	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,277,751	V263A	probably damaging	Het
Cfc1	C	T	1: 34,537,372	R145C	probably damaging	Het
Cnn1	C	A	9: 22,108,054	D239E	probably damaging	Het
Cobll1	C	T	2: 65,103,172	S493N	probably benign	Het
Cox20	A	T	1: 178,319,206	K13*	probably null	Het
Dclk1	G	A	3: 55,463,079	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,131,561	D8E	probably benign	Het
Dnajc10	A	T	2: 80,344,983	K571N	probably benign	Het
Dock7	T	A	4: 99,008,043	I58F		Het
Dpy19l4	A	G	4: 11,304,298		probably null	Het
Eef2k	A	G	7: 120,884,695	D218G	probably benign	Het
Eya4	G	T	10: 23,113,946	T504K	probably damaging	Het
Fam222a	T	C	5: 114,611,337	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,857,759	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,623,613	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,601,252	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,175,817		probably benign	Het
Gm21028	A	T	7: 42,578,480	C37S	probably damaging	Het
Gpr179	G	T	11: 97,338,725	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,323,403	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,899,285	T1181I	probably benign	Het
Herc4	G	A	10: 63,308,346	V753I	probably damaging	Het
Htra1	A	T	7: 130,962,121	K241*	probably null	Het
Kat6b	A	G	14: 21,670,025	I1482V	probably benign	Het
Kif19a	G	T	11: 114,789,207	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,355,374	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,511,343	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987	R94W	probably damaging	Het
Map4	A	G	9: 110,035,155	T483A	probably benign	Het
Mettl3	C	A	14: 52,296,668	C483F	probably damaging	Het
Myh13	A	G	11: 67,363,283	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,179,383	V414I	probably damaging	Het
Myh7b	C	T	2: 155,628,802	R1057C	probably damaging	Het
Nelfcd	A	G	2: 174,423,185	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,459,652	S786P	probably damaging	Het
Olfr1000	T	A	2: 85,607,987	K308*	probably null	Het
Olfr775	A	G	10: 129,251,103	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,397,335	V141L	probably benign	Het
Phip	G	T	9: 82,875,359	R1587S	probably damaging	Het
Plce1	A	G	19: 38,737,933	E1448G	probably damaging	Het
Plrg1	T	C	3: 83,069,001	S326P	possibly damaging	Het
Pom121l2	T	A	13: 21,981,682	V41E	probably damaging	Het
Preb	G	T	5: 30,956,329	S311*	probably null	Het
Prss33	T	A	17: 23,834,749	D118V	probably damaging	Het
Pum1	C	A	4: 130,771,898	Y1008*	probably null	Het
Rassf2	G	A	2: 132,004,406	R144C	probably damaging	Het
Rnf123	A	T	9: 108,067,505	M429K	probably benign	Het
Rtl1	T	A	12: 109,590,857	H1516L	probably benign	Het
Scyl3	T	A	1: 163,936,438	N124K	probably damaging	Het
Sec24b	A	G	3: 130,007,571	S488P	probably benign	Het
Shc4	T	A	2: 125,678,698	D277V	probably damaging	Het
Sorl1	T	A	9: 42,001,518	D1389V	probably damaging	Het
Srcap	T	A	7: 127,559,640	I2896N	unknown	Het
Steap3	T	A	1: 120,227,834	Y465F	probably benign	Het
Tecta	C	A	9: 42,372,897	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,160,854		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem178b	G	A	6: 40,004,247	W72*	probably null	Het
Tmem235	T	G	11: 117,860,839	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,134,460	T366K	probably benign	Het
Trdv2-1	C	A	14: 53,946,391	P27T	probably benign	Het
Trim37	G	T	11: 87,167,502	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 182,157,437	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,547,250	S543T	probably benign	Het
Wdpcp	C	T	11: 21,711,522	P265S	probably benign	Het
Wdr64	T	C	1: 175,772,305	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,428,930	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,317,399	I270F	probably damaging	Het
Zfp715	A	G	7: 43,299,423	L371P	probably damaging	Het

Other mutations in Myo9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Myo9b	APN	8	71348735	missense	probably benign
IGL01020:Myo9b	APN	8	71352000	missense	probably benign
IGL01479:Myo9b	APN	8	71359342	missense	probably damaging	1.00
IGL01704:Myo9b	APN	8	71359642	missense	probably damaging	0.98
IGL01761:Myo9b	APN	8	71349152	missense	probably damaging	0.96
IGL01766:Myo9b	APN	8	71290517	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71356318	missense	probably damaging	1.00
IGL01834:Myo9b	APN	8	71355257	missense	possibly damaging	0.93
IGL01838:Myo9b	APN	8	71334390	missense	probably damaging	0.99
IGL02318:Myo9b	APN	8	71354124	missense	probably damaging	0.98
IGL02333:Myo9b	APN	8	71358993	missense	possibly damaging	0.65
IGL02340:Myo9b	APN	8	71291045	missense	probably damaging	1.00
IGL02514:Myo9b	APN	8	71291006	missense	probably damaging	1.00
IGL02593:Myo9b	APN	8	71290773	missense	probably damaging	1.00
IGL03075:Myo9b	APN	8	71354527	missense	probably damaging	1.00
IGL03332:Myo9b	APN	8	71348774	missense	possibly damaging	0.78
avantgarde	UTSW	8	71344162	missense	probably damaging	1.00
Freaky	UTSW	8	71290819	missense	probably damaging	1.00
iconoclastic	UTSW	8	71290475	missense	probably benign	0.37
unconventional	UTSW	8	71348597	missense	probably benign	0.00
PIT4418001:Myo9b	UTSW	8	71322947	missense	probably damaging	1.00
PIT4651001:Myo9b	UTSW	8	71342812	missense	possibly damaging	0.83
R0023:Myo9b	UTSW	8	71333768	missense	probably damaging	1.00
R0103:Myo9b	UTSW	8	71323849	splice site	probably benign
R0103:Myo9b	UTSW	8	71323849	splice site	probably benign
R0144:Myo9b	UTSW	8	71346043	missense	probably damaging	1.00
R0207:Myo9b	UTSW	8	71355225	splice site	probably benign
R0226:Myo9b	UTSW	8	71353832	missense	probably damaging	1.00
R0227:Myo9b	UTSW	8	71344162	missense	probably damaging	1.00
R0244:Myo9b	UTSW	8	71321813	missense	probably damaging	1.00
R0277:Myo9b	UTSW	8	71355952	splice site	probably benign
R0362:Myo9b	UTSW	8	71347770	missense	probably damaging	1.00
R0689:Myo9b	UTSW	8	71330756	missense	probably damaging	1.00
R0844:Myo9b	UTSW	8	71290475	missense	probably benign	0.37
R1051:Myo9b	UTSW	8	71355822	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71291036	missense	probably damaging	1.00
R1469:Myo9b	UTSW	8	71291036	missense	probably damaging	1.00
R1526:Myo9b	UTSW	8	71355764	missense	probably damaging	1.00
R1544:Myo9b	UTSW	8	71290976	missense	probably damaging	1.00
R1565:Myo9b	UTSW	8	71315192	missense	possibly damaging	0.46
R1645:Myo9b	UTSW	8	71322978	missense	probably damaging	1.00
R1745:Myo9b	UTSW	8	71354047	missense	probably damaging	1.00
R1820:Myo9b	UTSW	8	71333358	missense	probably damaging	1.00
R2037:Myo9b	UTSW	8	71290866	missense	probably damaging	1.00
R2050:Myo9b	UTSW	8	71290550	missense	probably damaging	1.00
R2056:Myo9b	UTSW	8	71359690	missense	possibly damaging	0.78
R2129:Myo9b	UTSW	8	71333699	missense	probably damaging	1.00
R2423:Myo9b	UTSW	8	71327940	missense	probably damaging	1.00
R2869:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2869:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2871:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71290966	missense	probably benign	0.01
R2872:Myo9b	UTSW	8	71290966	missense	probably benign	0.01
R2873:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2874:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2920:Myo9b	UTSW	8	71325857	missense	probably damaging	0.98
R2926:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2939:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R2940:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3033:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3040:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3689:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3691:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R3735:Myo9b	UTSW	8	71348597	missense	probably benign	0.00
R4194:Myo9b	UTSW	8	71359624	missense	possibly damaging	0.71
R4258:Myo9b	UTSW	8	71355765	missense	probably damaging	1.00
R4457:Myo9b	UTSW	8	71290999	missense	probably damaging	1.00
R4478:Myo9b	UTSW	8	71291081	missense	probably damaging	1.00
R4496:Myo9b	UTSW	8	71334337	missense	probably benign	0.01
R4544:Myo9b	UTSW	8	71327941	missense	probably damaging	1.00
R4580:Myo9b	UTSW	8	71315135	missense	probably damaging	1.00
R4736:Myo9b	UTSW	8	71356592	missense	probably damaging	1.00
R5068:Myo9b	UTSW	8	71349055	missense	probably damaging	1.00
R5124:Myo9b	UTSW	8	71355839	missense	probably damaging	1.00
R5194:Myo9b	UTSW	8	71349089	missense	probably benign	0.01
R5296:Myo9b	UTSW	8	71333388	missense	possibly damaging	0.69
R5528:Myo9b	UTSW	8	71323274	missense	probably benign	0.06
R5664:Myo9b	UTSW	8	71359882	missense	probably benign	0.13
R5677:Myo9b	UTSW	8	71343686	missense	probably damaging	1.00
R5680:Myo9b	UTSW	8	71290372	missense	probably benign	0.00
R5982:Myo9b	UTSW	8	71348396	missense	probably benign	0.05
R6344:Myo9b	UTSW	8	71327914	missense	probably damaging	1.00
R6352:Myo9b	UTSW	8	71348410	missense	probably benign	0.16
R6352:Myo9b	UTSW	8	71348411	missense	probably benign
R6411:Myo9b	UTSW	8	71322955	nonsense	probably null
R6425:Myo9b	UTSW	8	71333628	missense	probably damaging	1.00
R6505:Myo9b	UTSW	8	71355857	missense	possibly damaging	0.88
R6743:Myo9b	UTSW	8	71352159	splice site	probably null
R6811:Myo9b	UTSW	8	71356578	missense	probably damaging	1.00
R6813:Myo9b	UTSW	8	71323305	missense	probably damaging	1.00
R6954:Myo9b	UTSW	8	71290819	missense	probably damaging	1.00
R7124:Myo9b	UTSW	8	71333701	nonsense	probably null
R7255:Myo9b	UTSW	8	71290891	missense	probably damaging	1.00
R7293:Myo9b	UTSW	8	71325905	missense	probably benign	0.00
R7342:Myo9b	UTSW	8	71355774	missense	probably damaging	1.00
R7451:Myo9b	UTSW	8	71352188	missense	probably benign	0.28
R7482:Myo9b	UTSW	8	71342798	missense	probably benign	0.00
R7508:Myo9b	UTSW	8	71354801	missense	probably benign	0.00
R7957:Myo9b	UTSW	8	71354761	missense	probably benign	0.12
R8062:Myo9b	UTSW	8	71321813	missense	probably damaging	0.99
R8108:Myo9b	UTSW	8	71348342	missense	probably damaging	0.99
R8197:Myo9b	UTSW	8	71290963	missense	probably damaging	1.00
R8274:Myo9b	UTSW	8	71359836	missense	probably benign	0.00
R8686:Myo9b	UTSW	8	71334322	missense	probably benign	0.01
R8731:Myo9b	UTSW	8	71353842	critical splice donor site	probably null
R8924:Myo9b	UTSW	8	71349031	missense	probably benign
R9056:Myo9b	UTSW	8	71352262	missense	probably benign	0.17
R9117:Myo9b	UTSW	8	71347807	missense	probably benign	0.03
R9151:Myo9b	UTSW	8	71355227	splice site	probably benign
R9315:Myo9b	UTSW	8	71349167	missense	possibly damaging	0.54
R9364:Myo9b	UTSW	8	71355839	missense	probably damaging	1.00
R9569:Myo9b	UTSW	8	71358985	missense	probably benign
R9581:Myo9b	UTSW	8	71359899	missense	probably benign	0.19
R9600:Myo9b	UTSW	8	71290431	missense	possibly damaging	0.80
X0066:Myo9b	UTSW	8	71323898	missense	probably damaging	1.00
Z1177:Myo9b	UTSW	8	71290709	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACCTTGACTCAGAGACATC -3'
(R):5'- ACTGGAACAACAGCCTCCTG -3'

Sequencing Primer
(F):5'- TTGACTCAGAGACATCGGCCAG -3'
(R):5'- AACAGCCTCCTGGAGAGCAG -3'

Posted On

2022-04-18