Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Myo3b'

718799

Institutional Source

Beutler Lab

Gene Symbol

Myo3b

Ensembl Gene

ENSMUSG00000042064

Gene Name

myosin IIIB

Synonyms

A430065P19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69869470-70259542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70062753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 346 (T346A)

Ref Sequence

ENSEMBL: ENSMUSP00000055362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060208] [ENSMUST00000112243]

AlphaFold

Q1EG27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060208
AA Change: T346A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055362
Gene: ENSMUSG00000042064
AA Change: T346A

Domain	Start	End	E-Value	Type
S_TKc	43	309	2.24e-85	SMART
MYSc	353	1075	6.61e-260	SMART
IQ	1075	1097	9.51e1	SMART
IQ	1102	1124	1.73e-5	SMART
low complexity region	1319	1324	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112243
AA Change: T318A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107862
Gene: ENSMUSG00000042064
AA Change: T318A

Domain	Start	End	E-Value	Type
S_TKc	15	281	2.24e-85	SMART
MYSc	325	1047	6.61e-260	SMART
IQ	1047	1069	9.51e1	SMART
IQ	1074	1096	1.73e-5	SMART
low complexity region	1291	1296	N/A	INTRINSIC

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 one of the class III myosins. Myosins are ATPases, activated by actin, that move along actin filaments in the cell. This class of myosins are characterized by an amino-terminal kinase domain and shown to be present in photoreceptors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cacna1b	A	T	2: 24,651,799 (GRCm39)	S127T	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Chek1	T	C	9: 36,625,121 (GRCm39)	E320G	probably benign	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Hspa1l	T	A	17: 35,196,972 (GRCm39)	V337D	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rnf207	T	C	4: 152,396,234 (GRCm39)	Y510C	probably damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	probably benign	Het

Other mutations in Myo3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Myo3b	APN	2	69,935,989 (GRCm39)	splice site	probably benign
IGL00959:Myo3b	APN	2	70,144,636 (GRCm39)	missense	probably damaging	1.00
IGL01069:Myo3b	APN	2	70,075,735 (GRCm39)	missense	probably benign	0.22
IGL01116:Myo3b	APN	2	70,119,730 (GRCm39)	missense	probably damaging	1.00
IGL02097:Myo3b	APN	2	70,069,173 (GRCm39)	missense	probably damaging	1.00
IGL02220:Myo3b	APN	2	70,119,923 (GRCm39)	splice site	probably benign
IGL02553:Myo3b	APN	2	69,925,568 (GRCm39)	missense	probably benign	0.00
IGL02557:Myo3b	APN	2	70,085,663 (GRCm39)	missense	probably benign	0.16
IGL02648:Myo3b	APN	2	69,935,716 (GRCm39)	splice site	probably benign
IGL02902:Myo3b	APN	2	70,119,745 (GRCm39)	missense	probably benign	0.36
IGL02981:Myo3b	APN	2	69,938,969 (GRCm39)	missense	probably damaging	1.00
IGL03030:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03031:Myo3b	APN	2	70,085,721 (GRCm39)	missense	possibly damaging	0.64
IGL03068:Myo3b	APN	2	70,257,160 (GRCm39)	splice site	probably benign
IGL03078:Myo3b	APN	2	70,117,335 (GRCm39)	missense	probably damaging	1.00
IGL03224:Myo3b	APN	2	70,180,283 (GRCm39)	missense	probably benign
IGL03329:Myo3b	APN	2	70,084,803 (GRCm39)	missense	probably damaging	1.00
R0079:Myo3b	UTSW	2	69,925,502 (GRCm39)	missense	possibly damaging	0.58
R0226:Myo3b	UTSW	2	70,047,510 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0238:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0239:Myo3b	UTSW	2	69,935,769 (GRCm39)	missense	probably benign	0.00
R0313:Myo3b	UTSW	2	70,179,303 (GRCm39)	nonsense	probably null
R0331:Myo3b	UTSW	2	69,925,605 (GRCm39)	missense	probably damaging	1.00
R0371:Myo3b	UTSW	2	70,083,304 (GRCm39)	splice site	probably benign
R0442:Myo3b	UTSW	2	70,069,305 (GRCm39)	critical splice donor site	probably null
R0964:Myo3b	UTSW	2	70,257,193 (GRCm39)	missense	probably damaging	1.00
R1217:Myo3b	UTSW	2	70,161,224 (GRCm39)	missense	probably benign	0.02
R1429:Myo3b	UTSW	2	70,083,351 (GRCm39)	missense	probably damaging	0.97
R1460:Myo3b	UTSW	2	70,062,798 (GRCm39)	missense	probably benign	0.31
R1617:Myo3b	UTSW	2	70,111,562 (GRCm39)	missense	probably benign	0.00
R1628:Myo3b	UTSW	2	70,117,306 (GRCm39)	missense	probably benign	0.01
R1708:Myo3b	UTSW	2	70,075,729 (GRCm39)	nonsense	probably null
R1940:Myo3b	UTSW	2	70,088,419 (GRCm39)	missense	probably benign	0.01
R2407:Myo3b	UTSW	2	70,085,597 (GRCm39)	missense	probably damaging	1.00
R3081:Myo3b	UTSW	2	70,086,927 (GRCm39)	splice site	probably benign
R3687:Myo3b	UTSW	2	70,075,658 (GRCm39)	missense	probably benign
R3745:Myo3b	UTSW	2	70,064,829 (GRCm39)	splice site	probably benign
R4011:Myo3b	UTSW	2	69,926,720 (GRCm39)	missense	probably benign	0.15
R4074:Myo3b	UTSW	2	70,119,808 (GRCm39)	missense	probably damaging	1.00
R4419:Myo3b	UTSW	2	69,926,706 (GRCm39)	missense	probably damaging	1.00
R4496:Myo3b	UTSW	2	70,084,748 (GRCm39)	missense	probably benign
R4539:Myo3b	UTSW	2	69,869,491 (GRCm39)	start codon destroyed	probably null	0.00
R4643:Myo3b	UTSW	2	70,069,186 (GRCm39)	missense	possibly damaging	0.49
R4657:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R4807:Myo3b	UTSW	2	69,936,056 (GRCm39)	missense	probably damaging	1.00
R4849:Myo3b	UTSW	2	70,075,253 (GRCm39)	missense	probably damaging	0.98
R4997:Myo3b	UTSW	2	70,088,427 (GRCm39)	missense	possibly damaging	0.49
R5008:Myo3b	UTSW	2	70,088,412 (GRCm39)	missense	probably damaging	0.99
R5070:Myo3b	UTSW	2	70,083,456 (GRCm39)	missense	probably damaging	1.00
R5072:Myo3b	UTSW	2	69,925,593 (GRCm39)	missense	possibly damaging	0.96
R5082:Myo3b	UTSW	2	70,088,374 (GRCm39)	missense	probably benign	0.01
R5103:Myo3b	UTSW	2	69,926,747 (GRCm39)	missense	probably benign	0.08
R5109:Myo3b	UTSW	2	69,925,637 (GRCm39)	missense	possibly damaging	0.66
R5304:Myo3b	UTSW	2	70,257,232 (GRCm39)	missense	probably damaging	0.97
R5396:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R5400:Myo3b	UTSW	2	69,935,724 (GRCm39)	missense	probably damaging	1.00
R5468:Myo3b	UTSW	2	70,064,785 (GRCm39)	missense	probably benign	0.00
R5620:Myo3b	UTSW	2	70,069,254 (GRCm39)	missense	probably benign	0.04
R5646:Myo3b	UTSW	2	70,144,774 (GRCm39)	missense	probably damaging	0.97
R5729:Myo3b	UTSW	2	69,936,083 (GRCm39)	missense	probably damaging	1.00
R5943:Myo3b	UTSW	2	70,117,285 (GRCm39)	missense	probably benign	0.03
R5971:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6091:Myo3b	UTSW	2	70,069,113 (GRCm39)	missense	probably benign	0.00
R6138:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
R6164:Myo3b	UTSW	2	70,075,754 (GRCm39)	critical splice donor site	probably null
R6177:Myo3b	UTSW	2	70,143,707 (GRCm39)	missense	probably benign	0.00
R6421:Myo3b	UTSW	2	70,143,700 (GRCm39)	missense	probably benign	0.02
R6478:Myo3b	UTSW	2	70,179,304 (GRCm39)	missense	probably benign
R6606:Myo3b	UTSW	2	70,062,829 (GRCm39)	missense	possibly damaging	0.94
R6752:Myo3b	UTSW	2	70,119,856 (GRCm39)	missense	probably damaging	1.00
R6982:Myo3b	UTSW	2	70,256,409 (GRCm39)	missense	probably benign	0.02
R6997:Myo3b	UTSW	2	69,957,329 (GRCm39)	missense	probably damaging	0.99
R7032:Myo3b	UTSW	2	69,925,608 (GRCm39)	missense	probably damaging	0.98
R7038:Myo3b	UTSW	2	69,925,552 (GRCm39)	missense	probably benign	0.00
R7062:Myo3b	UTSW	2	70,047,501 (GRCm39)	missense	probably benign	0.00
R7537:Myo3b	UTSW	2	70,047,513 (GRCm39)	missense	probably benign	0.01
R7861:Myo3b	UTSW	2	69,939,032 (GRCm39)	missense	probably damaging	1.00
R7955:Myo3b	UTSW	2	69,925,623 (GRCm39)	missense	probably benign	0.37
R7977:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R7978:Myo3b	UTSW	2	70,083,458 (GRCm39)	missense	probably damaging	1.00
R7987:Myo3b	UTSW	2	70,161,277 (GRCm39)	missense	probably benign
R8803:Myo3b	UTSW	2	70,083,338 (GRCm39)	missense	probably benign
R8843:Myo3b	UTSW	2	70,088,325 (GRCm39)	missense	probably damaging	1.00
R8896:Myo3b	UTSW	2	70,069,160 (GRCm39)	missense	probably damaging	1.00
R8904:Myo3b	UTSW	2	70,257,252 (GRCm39)	missense	probably benign	0.07
R8909:Myo3b	UTSW	2	70,083,440 (GRCm39)	missense	probably damaging	1.00
R9031:Myo3b	UTSW	2	70,082,094 (GRCm39)	missense	probably damaging	0.99
R9052:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
R9251:Myo3b	UTSW	2	70,088,425 (GRCm39)	nonsense	probably null
R9268:Myo3b	UTSW	2	70,257,305 (GRCm39)	makesense	probably null
R9334:Myo3b	UTSW	2	70,047,360 (GRCm39)	missense	probably damaging	1.00
R9377:Myo3b	UTSW	2	70,069,242 (GRCm39)	missense	possibly damaging	0.78
R9457:Myo3b	UTSW	2	69,925,553 (GRCm39)	missense	probably benign	0.01
R9593:Myo3b	UTSW	2	70,075,648 (GRCm39)	missense	probably benign	0.43
R9671:Myo3b	UTSW	2	70,086,908 (GRCm39)	missense	probably damaging	1.00
R9790:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
R9791:Myo3b	UTSW	2	70,180,287 (GRCm39)	missense	probably benign	0.35
U15987:Myo3b	UTSW	2	70,069,243 (GRCm39)	missense	possibly damaging	0.95
X0025:Myo3b	UTSW	2	70,062,747 (GRCm39)	missense	probably benign	0.00
X0065:Myo3b	UTSW	2	70,088,313 (GRCm39)	missense	probably damaging	1.00
Z1177:Myo3b	UTSW	2	70,088,371 (GRCm39)	missense	probably benign	0.01
Z1177:Myo3b	UTSW	2	69,926,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGAAGAGCTTAAGACTCCCC -3'
(R):5'- CCTGTGTGAAGCTCTCCATGAG -3'

Sequencing Primer
(F):5'- GAAGAGCTTAAGACTCCCCTTCCC -3'
(R):5'- TCCATGAGAGCTGTCTACTAAGC -3'

Posted On

2022-07-18