Mutagenetix > Incidental Mutation

Incidental Mutation 'R6757:Myo1b'

531081

Institutional Source

Beutler Lab

Gene Symbol

Myo1b

Ensembl Gene

ENSMUSG00000018417

Gene Name

myosin IB

Synonyms

MMRRC Submission

044873-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R6757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51788917-51955143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51852207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 179 (E179K)

Ref Sequence

ENSEMBL: ENSMUSP00000110188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541] [ENSMUST00000144694]

AlphaFold

P46735

Predicted Effect

probably damaging
Transcript: ENSMUST00000018561
AA Change: E173K

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

SMART Domains

Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: E173K

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	4.59e0	SMART
IQ	807	829	7.07e-2	SMART
IQ	836	858	3.3e-2	SMART
Pfam:Myosin_TH1	941	1128	3e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000046390
AA Change: E173K

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

SMART Domains

Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: E173K

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	3.68e0	SMART
IQ	807	829	3.3e-2	SMART
Pfam:Myosin_TH1	911	1107	3.3e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114537
AA Change: E173K

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

SMART Domains

Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: E173K

Domain	Start	End	E-Value	Type
MYSc	9	702	N/A	SMART
IQ	703	725	2.37e-3	SMART
IQ	726	748	2.43e0	SMART
IQ	749	771	5.24e-5	SMART
IQ	778	800	1.6e0	SMART
Pfam:Myosin_TH1	882	1078	1.9e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114541
AA Change: E179K

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

SMART Domains

Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: E179K

Domain	Start	End	E-Value	Type
MYSc	15	708	N/A	SMART
IQ	709	731	2.37e-3	SMART
IQ	732	754	2.43e0	SMART
IQ	755	777	5.24e-5	SMART
IQ	784	806	1.6e0	SMART
Pfam:Myosin_TH1	888	1084	5.8e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135125

Predicted Effect

probably damaging
Transcript: ENSMUST00000144694
AA Change: E173K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: E173K

Domain	Start	End	E-Value	Type
MYSc	9	299	4.69e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151525

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,666,558 (GRCm39)	*288Y	probably null	Het
Art2a	G	T	7: 101,204,221 (GRCm39)	L106I	probably benign	Het
Bmi1	C	T	2: 18,688,840 (GRCm39)	T203M	probably damaging	Het
Cpm	A	G	10: 117,507,543 (GRCm39)	D220G	probably damaging	Het
Cyp2a22	A	C	7: 26,638,629 (GRCm39)	D52E	probably benign	Het
Dag1	A	C	9: 108,095,216 (GRCm39)	I92S	probably damaging	Het
Dntt	A	T	19: 41,025,601 (GRCm39)	H73L	probably damaging	Het
Epha5	A	C	5: 84,253,737 (GRCm39)	I716S	probably damaging	Het
Fpr-rs4	C	T	17: 18,242,394 (GRCm39)	Q134*	probably null	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Garre1	G	A	7: 33,938,502 (GRCm39)	A799V	possibly damaging	Het
Gnptab	T	C	10: 88,273,364 (GRCm39)	L1047P	probably damaging	Het
Gstt1	A	T	10: 75,634,217 (GRCm39)		probably null	Het
Kdm2a	T	C	19: 4,369,271 (GRCm39)	R1115G	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nrp1	T	A	8: 129,152,349 (GRCm39)	I186N	probably damaging	Het
Or10g3	A	G	14: 52,610,172 (GRCm39)	C113R	probably damaging	Het
Pole	T	C	5: 110,451,476 (GRCm39)	V835A	probably damaging	Het
Shprh	A	G	10: 11,057,252 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,548,333 (GRCm39)	L238Q	probably damaging	Het
Spata31e5	A	C	1: 28,819,191 (GRCm39)	I30S	probably damaging	Het
Usp40	A	T	1: 87,907,759 (GRCm39)	I619N	probably damaging	Het

Other mutations in Myo1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Myo1b	APN	1	51,803,113 (GRCm39)	missense	possibly damaging	0.94
IGL00943:Myo1b	APN	1	51,823,646 (GRCm39)	missense	probably damaging	0.97
IGL01537:Myo1b	APN	1	51,815,510 (GRCm39)	missense	possibly damaging	0.93
IGL01550:Myo1b	APN	1	51,823,690 (GRCm39)	missense	probably damaging	1.00
IGL01610:Myo1b	APN	1	51,815,405 (GRCm39)	missense	probably damaging	1.00
IGL01667:Myo1b	APN	1	51,799,536 (GRCm39)	missense	probably damaging	1.00
IGL01743:Myo1b	APN	1	51,821,179 (GRCm39)	missense	probably damaging	0.96
IGL01830:Myo1b	APN	1	51,836,624 (GRCm39)	nonsense	probably null
IGL02070:Myo1b	APN	1	51,833,496 (GRCm39)	missense	probably damaging	1.00
IGL02398:Myo1b	APN	1	51,797,050 (GRCm39)	missense	probably damaging	1.00
IGL02582:Myo1b	APN	1	51,821,133 (GRCm39)	missense	possibly damaging	0.88
IGL02685:Myo1b	APN	1	51,817,658 (GRCm39)	missense	probably damaging	1.00
IGL02938:Myo1b	APN	1	51,840,337 (GRCm39)	splice site	probably null
IGL02981:Myo1b	APN	1	51,817,532 (GRCm39)	missense	probably damaging	1.00
Philemon	UTSW	1	51,812,406 (GRCm39)	missense	possibly damaging	0.83
Phyllo	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R7347_myo1b_243	UTSW	1	51,790,413 (GRCm39)	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R0007:Myo1b	UTSW	1	51,815,413 (GRCm39)	missense	probably damaging	1.00
R0035:Myo1b	UTSW	1	51,817,541 (GRCm39)	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51,821,148 (GRCm39)	missense	probably damaging	1.00
R0040:Myo1b	UTSW	1	51,821,148 (GRCm39)	missense	probably damaging	1.00
R0491:Myo1b	UTSW	1	51,794,857 (GRCm39)	missense	probably benign	0.05
R0959:Myo1b	UTSW	1	51,836,246 (GRCm39)	missense	probably damaging	1.00
R1171:Myo1b	UTSW	1	51,817,684 (GRCm39)	missense	probably damaging	1.00
R1440:Myo1b	UTSW	1	51,817,717 (GRCm39)	splice site	probably benign
R1539:Myo1b	UTSW	1	51,838,722 (GRCm39)	missense	probably damaging	0.97
R1616:Myo1b	UTSW	1	51,815,474 (GRCm39)	missense	probably damaging	1.00
R1888:Myo1b	UTSW	1	51,799,562 (GRCm39)	critical splice acceptor site	probably null
R1888:Myo1b	UTSW	1	51,799,562 (GRCm39)	critical splice acceptor site	probably null
R2697:Myo1b	UTSW	1	51,902,517 (GRCm39)	missense	probably benign	0.04
R3034:Myo1b	UTSW	1	51,812,406 (GRCm39)	missense	possibly damaging	0.83
R3720:Myo1b	UTSW	1	51,815,505 (GRCm39)	missense	possibly damaging	0.79
R3896:Myo1b	UTSW	1	51,812,420 (GRCm39)	missense	probably damaging	0.97
R4003:Myo1b	UTSW	1	51,838,689 (GRCm39)	critical splice donor site	probably null
R4179:Myo1b	UTSW	1	51,817,685 (GRCm39)	missense	probably damaging	1.00
R4308:Myo1b	UTSW	1	51,922,268 (GRCm39)	missense	probably benign	0.01
R4444:Myo1b	UTSW	1	51,797,078 (GRCm39)	missense	probably damaging	0.99
R4679:Myo1b	UTSW	1	51,797,132 (GRCm39)	missense	possibly damaging	0.94
R4914:Myo1b	UTSW	1	51,863,367 (GRCm39)	splice site	probably null
R5343:Myo1b	UTSW	1	51,817,696 (GRCm39)	missense	probably benign	0.00
R5530:Myo1b	UTSW	1	51,836,582 (GRCm39)	missense	probably damaging	1.00
R5636:Myo1b	UTSW	1	51,836,687 (GRCm39)	missense	probably damaging	1.00
R5956:Myo1b	UTSW	1	51,815,391 (GRCm39)	missense	probably damaging	1.00
R5974:Myo1b	UTSW	1	51,817,532 (GRCm39)	missense	probably damaging	1.00
R6334:Myo1b	UTSW	1	51,807,810 (GRCm39)	missense	probably null	0.36
R6346:Myo1b	UTSW	1	51,823,666 (GRCm39)	missense	probably damaging	1.00
R6382:Myo1b	UTSW	1	51,813,466 (GRCm39)	splice site	probably null
R6952:Myo1b	UTSW	1	51,801,668 (GRCm39)	missense	probably damaging	0.99
R7101:Myo1b	UTSW	1	51,797,160 (GRCm39)	missense	probably benign	0.19
R7192:Myo1b	UTSW	1	51,796,376 (GRCm39)	missense	probably damaging	0.99
R7347:Myo1b	UTSW	1	51,790,413 (GRCm39)	missense	probably damaging	1.00
R7446:Myo1b	UTSW	1	51,803,065 (GRCm39)	missense	possibly damaging	0.87
R7468:Myo1b	UTSW	1	51,836,639 (GRCm39)	missense	possibly damaging	0.78
R7503:Myo1b	UTSW	1	51,815,761 (GRCm39)	splice site	probably null
R7586:Myo1b	UTSW	1	51,817,483 (GRCm39)	missense	probably damaging	0.99
R7712:Myo1b	UTSW	1	51,832,836 (GRCm39)	missense	probably damaging	1.00
R7871:Myo1b	UTSW	1	51,818,739 (GRCm39)	missense	possibly damaging	0.89
R7905:Myo1b	UTSW	1	51,803,043 (GRCm39)	splice site	probably null
R8093:Myo1b	UTSW	1	51,797,034 (GRCm39)	critical splice donor site	probably null
R8485:Myo1b	UTSW	1	51,818,760 (GRCm39)	missense	probably damaging	1.00
R8705:Myo1b	UTSW	1	51,902,495 (GRCm39)	nonsense	probably null
R8731:Myo1b	UTSW	1	51,799,570 (GRCm39)	splice site	probably benign
R8735:Myo1b	UTSW	1	51,794,896 (GRCm39)	missense	probably benign	0.27
R8859:Myo1b	UTSW	1	51,836,198 (GRCm39)	missense	probably damaging	1.00
R9021:Myo1b	UTSW	1	51,821,142 (GRCm39)	missense	possibly damaging	0.89
R9416:Myo1b	UTSW	1	51,902,577 (GRCm39)	missense	probably damaging	0.99
R9583:Myo1b	UTSW	1	51,796,404 (GRCm39)	missense	possibly damaging	0.79
R9713:Myo1b	UTSW	1	51,818,766 (GRCm39)	missense	possibly damaging	0.50
X0065:Myo1b	UTSW	1	51,836,554 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACAAAGCAATTTGGAATTCAATGGC -3'
(R):5'- GGCTTTAGGACTAGGGTATACAGTG -3'

Sequencing Primer
(F):5'- AACAGACCTCTTCTCACCT -3'
(R):5'- CAGTGTGAATTATTCATGGAGGCAC -3'

Posted On

2018-08-01