Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Myo18b'

578763

Institutional Source

Beutler Lab

Gene Symbol

Myo18b

Ensembl Gene

ENSMUSG00000072720

Gene Name

myosin XVIIIb

Synonyms

4932408L24Rik, 4933411E19Rik

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112688876-112896362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112723892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2108 (T2108A)

Ref Sequence

ENSEMBL: ENSMUSP00000083810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086617]

AlphaFold

E9PV66

Predicted Effect

probably benign
Transcript: ENSMUST00000086617
AA Change: T2108A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000083810
Gene: ENSMUSG00000072720
AA Change: T2108A

Domain	Start	End	E-Value	Type
low complexity region	20	28	N/A	INTRINSIC
low complexity region	43	59	N/A	INTRINSIC
low complexity region	86	100	N/A	INTRINSIC
low complexity region	185	200	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
low complexity region	291	304	N/A	INTRINSIC
low complexity region	355	372	N/A	INTRINSIC
low complexity region	377	419	N/A	INTRINSIC
MYSc	605	1374	8.78e-30	SMART
IQ	1375	1397	5.92e-4	SMART
Pfam:Myosin_tail_1	1423	1875	5e-12	PFAM
low complexity region	1965	1985	N/A	INTRINSIC
coiled coil region	2052	2126	N/A	INTRINSIC
low complexity region	2184	2199	N/A	INTRINSIC
low complexity region	2325	2336	N/A	INTRINSIC
low complexity region	2408	2424	N/A	INTRINSIC
low complexity region	2544	2558	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with internal hemorrhage, pericaridal effusion, enlargement of the right atrium, and cardiac myofibril abnormalities. [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
AI182371	T	A	2: 35,088,741	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437		probably benign	Het
Amer3	A	G	1: 34,587,993	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261		probably null	Het
Art4	G	T	6: 136,854,850	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706		probably null	Het
Cd180	A	T	13: 102,704,995	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983		probably null	Het
Cfap77	G	T	2: 28,955,613	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484		probably null	Het
Ephb2	C	T	4: 136,659,065	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983	Y22C	probably benign	Het
F5	C	T	1: 164,193,328	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420		probably benign	Het
Ippk	T	C	13: 49,432,467		probably null	Het
Klc4	T	A	17: 46,639,910	I258F	probably benign	Het
Manba	C	A	3: 135,542,393	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789	N347S	probably benign	Het
Naip5	A	T	13: 100,221,986	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922	C182*	probably null	Het
Pam	A	T	1: 97,842,247	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484		probably null	Het
Rfc1	A	T	5: 65,275,426	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484		probably null	Het
Zfp503	T	C	14: 21,986,011	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531	V459A	probably damaging	Het

Other mutations in Myo18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Myo18b	APN	5	112874131	missense	probably benign	0.05
IGL00847:Myo18b	APN	5	112830389	splice site	probably benign
IGL00848:Myo18b	APN	5	112871485	missense	probably damaging	1.00
IGL00969:Myo18b	APN	5	112875007	unclassified	probably benign
IGL01018:Myo18b	APN	5	112809747	missense	probably damaging	1.00
IGL01448:Myo18b	APN	5	112811704	missense	probably damaging	1.00
IGL01490:Myo18b	APN	5	112809700	missense	possibly damaging	0.84
IGL01556:Myo18b	APN	5	112757449	splice site	probably benign
IGL01637:Myo18b	APN	5	112840629	missense	possibly damaging	0.82
IGL01819:Myo18b	APN	5	112878050	missense	unknown
IGL02007:Myo18b	APN	5	112874972	unclassified	probably benign
IGL02146:Myo18b	APN	5	112843285	missense	probably damaging	1.00
IGL02229:Myo18b	APN	5	112878110	missense	unknown
IGL02319:Myo18b	APN	5	112791139	missense	probably damaging	0.99
IGL02398:Myo18b	APN	5	112830312	missense	possibly damaging	0.92
IGL02420:Myo18b	APN	5	112827986	missense	possibly damaging	0.64
IGL02626:Myo18b	APN	5	112878085	missense	unknown
IGL02815:Myo18b	APN	5	112809735	missense	probably damaging	1.00
IGL02822:Myo18b	APN	5	112775345	missense	probably damaging	1.00
IGL02852:Myo18b	APN	5	112715511	missense	probably benign	0.03
IGL02995:Myo18b	APN	5	112775413	splice site	probably benign
IGL03019:Myo18b	APN	5	112692397	missense	probably benign	0.21
IGL03039:Myo18b	APN	5	112840771	missense	probably damaging	1.00
IGL03112:Myo18b	APN	5	112873990	missense	probably benign	0.02
IGL03123:Myo18b	APN	5	112874938	unclassified	probably benign
IGL03288:Myo18b	APN	5	112789997	missense	probably damaging	1.00
IGL03391:Myo18b	APN	5	112874479	unclassified	probably benign
klippel	UTSW	5	112757453	critical splice donor site	probably null
PIT4651001:Myo18b	UTSW	5	112834435	missense	probably benign	0.01
R0271:Myo18b	UTSW	5	112809685	missense	possibly damaging	0.91
R0277:Myo18b	UTSW	5	112693347	splice site	probably benign
R0352:Myo18b	UTSW	5	112874523	unclassified	probably benign
R0504:Myo18b	UTSW	5	112873576	unclassified	probably benign
R0539:Myo18b	UTSW	5	112723868	missense	probably damaging	0.99
R0599:Myo18b	UTSW	5	112865750	missense	probably damaging	1.00
R0627:Myo18b	UTSW	5	112798834	missense	probably benign	0.38
R0659:Myo18b	UTSW	5	112760327	missense	possibly damaging	0.66
R0671:Myo18b	UTSW	5	112692766	missense	probably benign	0.00
R0847:Myo18b	UTSW	5	112874488	unclassified	probably benign
R1082:Myo18b	UTSW	5	112760414	missense	probably damaging	1.00
R1116:Myo18b	UTSW	5	112803279	missense	probably damaging	1.00
R1264:Myo18b	UTSW	5	112830319	missense	probably benign	0.12
R1280:Myo18b	UTSW	5	112723805	critical splice donor site	probably null
R1444:Myo18b	UTSW	5	112775251	critical splice donor site	probably null
R1446:Myo18b	UTSW	5	112757559	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112693033	missense	probably damaging	1.00
R1470:Myo18b	UTSW	5	112693033	missense	probably damaging	1.00
R1590:Myo18b	UTSW	5	112875266	nonsense	probably null
R1601:Myo18b	UTSW	5	112871498	missense	possibly damaging	0.73
R1903:Myo18b	UTSW	5	112692758	missense	probably damaging	1.00
R1935:Myo18b	UTSW	5	112760356	missense	probably benign	0.04
R1936:Myo18b	UTSW	5	112760356	missense	probably benign	0.04
R2008:Myo18b	UTSW	5	112873557	missense	probably benign
R2127:Myo18b	UTSW	5	112831078	missense	probably damaging	1.00
R2129:Myo18b	UTSW	5	112831078	missense	probably damaging	1.00
R2141:Myo18b	UTSW	5	112874026	missense	probably benign	0.01
R2170:Myo18b	UTSW	5	112723858	missense	probably benign	0.23
R2258:Myo18b	UTSW	5	112874663	unclassified	probably benign
R2265:Myo18b	UTSW	5	112782673	missense	probably damaging	1.00
R2483:Myo18b	UTSW	5	112858408	missense	probably damaging	1.00
R2931:Myo18b	UTSW	5	112693127	missense	probably benign	0.01
R3160:Myo18b	UTSW	5	112692728	missense	probably damaging	0.99
R3162:Myo18b	UTSW	5	112692728	missense	probably damaging	0.99
R3777:Myo18b	UTSW	5	112757596	missense	probably damaging	0.99
R4240:Myo18b	UTSW	5	112803187	critical splice donor site	probably null
R4243:Myo18b	UTSW	5	112692395	missense	possibly damaging	0.95
R4245:Myo18b	UTSW	5	112692395	missense	possibly damaging	0.95
R4533:Myo18b	UTSW	5	112693025	missense	probably damaging	1.00
R4631:Myo18b	UTSW	5	112846400	missense	probably damaging	1.00
R4661:Myo18b	UTSW	5	112875175	unclassified	probably benign
R4755:Myo18b	UTSW	5	112874474	nonsense	probably null
R4771:Myo18b	UTSW	5	112692227	nonsense	probably null
R4812:Myo18b	UTSW	5	112809718	missense	possibly damaging	0.95
R4840:Myo18b	UTSW	5	112874029	missense	probably benign	0.02
R4888:Myo18b	UTSW	5	112874480	unclassified	probably benign
R4995:Myo18b	UTSW	5	112760392	missense	probably damaging	0.99
R5001:Myo18b	UTSW	5	112761340	missense	probably damaging	0.99
R5015:Myo18b	UTSW	5	112790057	missense	probably damaging	1.00
R5055:Myo18b	UTSW	5	112875217	unclassified	probably benign
R5070:Myo18b	UTSW	5	112761346	missense	probably damaging	1.00
R5105:Myo18b	UTSW	5	112840778	missense	probably damaging	1.00
R5121:Myo18b	UTSW	5	112874480	unclassified	probably benign
R5130:Myo18b	UTSW	5	112873903	missense	probably benign	0.06
R5186:Myo18b	UTSW	5	112871470	missense	probably damaging	1.00
R5437:Myo18b	UTSW	5	112757573	missense	possibly damaging	0.73
R5535:Myo18b	UTSW	5	112790042	missense	probably damaging	1.00
R5560:Myo18b	UTSW	5	112868295	missense	probably damaging	0.96
R5810:Myo18b	UTSW	5	112834450	missense	probably damaging	1.00
R5898:Myo18b	UTSW	5	112802330	splice site	probably null
R6065:Myo18b	UTSW	5	112692781	missense	probably benign	0.00
R6104:Myo18b	UTSW	5	112874291	unclassified	probably benign
R6113:Myo18b	UTSW	5	112866385	missense	probably damaging	1.00
R6158:Myo18b	UTSW	5	112874172	missense	probably benign	0.01
R6167:Myo18b	UTSW	5	112872507	splice site	probably null
R6220:Myo18b	UTSW	5	112757507	missense	possibly damaging	0.93
R6276:Myo18b	UTSW	5	112811642	missense	probably benign	0.31
R6290:Myo18b	UTSW	5	112865735	missense	possibly damaging	0.69
R6291:Myo18b	UTSW	5	112865735	missense	possibly damaging	0.69
R6795:Myo18b	UTSW	5	112846364	missense	probably damaging	0.99
R6798:Myo18b	UTSW	5	112761386	missense	probably damaging	0.98
R6817:Myo18b	UTSW	5	112830238	missense	probably benign	0.00
R6937:Myo18b	UTSW	5	112802392	missense	probably benign	0.12
R7034:Myo18b	UTSW	5	112723904	nonsense	probably null
R7097:Myo18b	UTSW	5	112874405	missense	unknown
R7145:Myo18b	UTSW	5	112817679	nonsense	probably null
R7201:Myo18b	UTSW	5	112715459	missense	probably damaging	1.00
R7260:Myo18b	UTSW	5	112775288	missense	probably benign	0.01
R7265:Myo18b	UTSW	5	112812072	missense	probably damaging	1.00
R7409:Myo18b	UTSW	5	112874105	missense	probably benign	0.25
R7487:Myo18b	UTSW	5	112834433	missense	possibly damaging	0.93
R7571:Myo18b	UTSW	5	112830328	missense	probably damaging	1.00
R7600:Myo18b	UTSW	5	112878103	missense	unknown
R7612:Myo18b	UTSW	5	112865302	missense	possibly damaging	0.82
R7617:Myo18b	UTSW	5	112757453	critical splice donor site	probably null
R7696:Myo18b	UTSW	5	112692292	missense	probably damaging	1.00
R7710:Myo18b	UTSW	5	112875025	missense	unknown
R8047:Myo18b	UTSW	5	112723815	missense	possibly damaging	0.91
R8070:Myo18b	UTSW	5	112791120	missense	probably benign	0.01
R8088:Myo18b	UTSW	5	112879510	start gained	probably benign
R8247:Myo18b	UTSW	5	112692196	missense	probably damaging	1.00
R8276:Myo18b	UTSW	5	112795407	missense	possibly damaging	0.50
R8313:Myo18b	UTSW	5	112875179	missense	unknown
R8375:Myo18b	UTSW	5	112760393	missense	possibly damaging	0.85
R8432:Myo18b	UTSW	5	112764512	missense	probably benign	0.00
R8475:Myo18b	UTSW	5	112873556	nonsense	probably null
R8482:Myo18b	UTSW	5	112871623	nonsense	probably null
R8671:Myo18b	UTSW	5	112874743	missense	unknown
R8681:Myo18b	UTSW	5	112873563	critical splice acceptor site	probably null
R8918:Myo18b	UTSW	5	112875007	unclassified	probably benign
R8941:Myo18b	UTSW	5	112874929	unclassified	probably benign
R8962:Myo18b	UTSW	5	112858480	missense	probably benign	0.24
R8972:Myo18b	UTSW	5	112693298	missense	probably benign	0.00
R9116:Myo18b	UTSW	5	112827996	missense	probably damaging	1.00
R9209:Myo18b	UTSW	5	112875061	missense	unknown
R9358:Myo18b	UTSW	5	112795403	missense	possibly damaging	0.93
R9469:Myo18b	UTSW	5	112846381	missense	probably benign	0.15
R9607:Myo18b	UTSW	5	112874678	missense	unknown
R9659:Myo18b	UTSW	5	112874516	missense	unknown
Z1088:Myo18b	UTSW	5	112692943	missense	possibly damaging	0.89
Z1088:Myo18b	UTSW	5	112757484	missense	probably benign	0.25
Z1176:Myo18b	UTSW	5	112762721	missense	not run
Z1176:Myo18b	UTSW	5	112809738	missense	possibly damaging	0.87
Z1176:Myo18b	UTSW	5	112831190	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	112692899	missense	probably damaging	1.00
Z1177:Myo18b	UTSW	5	112762721	missense	not run
Z1177:Myo18b	UTSW	5	112873541	nonsense	probably null
Z1177:Myo18b	UTSW	5	112875152	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTCCCAGCAAATATAGCCTGAG -3'
(R):5'- ACATTGCAGAGAGATGGGCTC -3'

Sequencing Primer
(F):5'- CAGCAAATATAGCCTGAGACTTG -3'
(R):5'- CAATAGGCTCTGCTCAGGC -3'

Posted On

2019-10-07