Mutagenetix > Incidental Mutation

Incidental Mutation 'R9600:Myo9b'

723675

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 #

R9600 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71272714-71360713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 71290431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 45 (S45R)

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

possibly damaging
Transcript: ENSMUST00000071935
AA Change: S45R

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071827
Gene: ENSMUSG00000004677
AA Change: S45R

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
AA Change: S45R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131635
Gene: ENSMUSG00000004677
AA Change: S45R

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: S45R

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129220
Gene: ENSMUSG00000004677
AA Change: S45R

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: ENSMUST00000212935
AA Change: S45R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,175	L296Q	possibly damaging	Het
4932438A13Rik	A	T	3: 37,041,416	K1103*	probably null	Het
5730455P16Rik	A	G	11: 80,370,371	V210A	probably damaging	Het
Abcc9	G	A	6: 142,590,376	A1544V	possibly damaging	Het
Akap6	A	G	12: 52,886,558	T278A	probably benign	Het
Arfgef1	T	A	1: 10,163,752	I1106F	probably benign	Het
Armc7	T	C	11: 115,476,212	L61S	probably damaging	Het
Atp1a3	G	A	7: 25,000,602	T111M	probably benign	Het
BC017158	T	A	7: 128,276,504	D253V	possibly damaging	Het
Cacna2d4	T	A	6: 119,345,062	S962R	probably benign	Het
Camsap2	T	C	1: 136,277,198	T526A		Het
Casq2	A	T	3: 102,145,306	D378V	unknown	Het
Chst8	C	T	7: 34,675,221	D398N	possibly damaging	Het
Cmya5	C	T	13: 93,090,096	G2828D	probably damaging	Het
Cntnap2	T	A	6: 45,992,075	N250K	probably damaging	Het
Cpne5	T	C	17: 29,161,546	N401D	probably damaging	Het
Cse1l	A	G	2: 166,915,199	N7S	probably damaging	Het
Cyp4f39	G	A	17: 32,486,946	G337D	probably damaging	Het
Dera	C	T	6: 137,837,137	R308C	probably benign	Het
Drd5	T	A	5: 38,320,831	I389N	possibly damaging	Het
F830016B08Rik	A	G	18: 60,300,165	T107A	probably damaging	Het
Fbxw22	C	A	9: 109,383,918	L320F	probably damaging	Het
Fndc3b	G	T	3: 27,498,792	T352K	probably damaging	Het
Gm36864	T	A	7: 44,236,851	I169K	unknown	Het
Gm6614	T	G	6: 142,003,508		probably null	Het
Hdac4	A	T	1: 91,961,555	D749E	probably damaging	Het
Herc1	C	T	9: 66,397,312	A805V	possibly damaging	Het
Hrh1	A	G	6: 114,480,492	K245E	probably benign	Het
Khdc1a	A	G	1: 21,350,980	T130A	probably benign	Het
Lrp5	C	G	19: 3,591,712	A1417P	probably benign	Het
Macf1	T	C	4: 123,471,209	Q3253R	possibly damaging	Het
Mdn1	T	A	4: 32,684,723	L811*	probably null	Het
Mettl8	T	C	2: 70,982,039	D84G	possibly damaging	Het
Miga1	T	G	3: 152,287,549	T412P	probably benign	Het
Mtor	G	T	4: 148,547,635	R2322L	possibly damaging	Het
Muc16	T	C	9: 18,655,851	N1791D	unknown	Het
Olfm4	T	C	14: 80,006,307	F105S	probably damaging	Het
Olfr313	A	T	11: 58,817,544	I179F	possibly damaging	Het
Osbpl1a	T	C	18: 12,882,220	I384V	probably benign	Het
Pcnx	T	C	12: 81,983,661	L1131P		Het
Pex6	T	A	17: 46,724,396	V827E	probably damaging	Het
Plek	A	C	11: 16,990,119	S197A	probably benign	Het
Pmpca	T	C	2: 26,392,586	Y269H	probably benign	Het
Pop1	T	C	15: 34,512,735	I493T	probably benign	Het
Rap1gap2	T	C	11: 74,393,128	N615D	probably benign	Het
Rtp3	T	C	9: 110,986,130	Y389C	unknown	Het
Sardh	T	C	2: 27,230,501	Q423R	probably benign	Het
Slc11a1	T	C	1: 74,383,529		probably null	Het
Slc5a4b	T	C	10: 76,060,405	D572G	probably damaging	Het
Slfn14	A	G	11: 83,279,222	V532A	probably benign	Het
Stxbp1	T	C	2: 32,811,108	Y264C	possibly damaging	Het
Syce1l	T	C	8: 113,655,118	I230T	unknown	Het
Taf5l	T	C	8: 124,003,434	Y172C		Het
Tex43	T	C	18: 56,592,378	W37R	probably benign	Het
Trpc4	A	T	3: 54,194,827	K49*	probably null	Het
Ttc13	A	G	8: 124,688,545	V285A	probably benign	Het
Ttc17	A	T	2: 94,374,545	L344Q	probably damaging	Het
Unc79	A	G	12: 103,169,713	H2469R	probably benign	Het
Xkr7	A	G	2: 153,054,473	I416V	probably benign	Het
Zeb2	C	A	2: 45,097,168	D35Y	unknown	Het
Zfp28	A	G	7: 6,394,918	H784R	probably benign	Het
Zfp644	A	C	5: 106,636,043	S848R	probably benign	Het
Zfp809	G	A	9: 22,239,088	E294K	possibly damaging	Het
Zfp820	A	G	17: 21,819,880	Y156H	probably benign	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
R9332:Myo9b	UTSW	8	71359602	missense	probably benign	0.07
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
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'- TTCCAGTTACAGGAGGTGTGC -3'
(R):5'- ATTGCGTTCCTGCAGCAAG -3'

Sequencing Primer
(F):5'- AGTATGAGTGCGCACGA -3'
(R):5'- GAAGTAGTAGCCATCCTCCTGAG -3'

Posted On

2022-09-12