Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Myl10'

510340

Institutional Source

Beutler Lab

Gene Symbol

Myl10

Ensembl Gene

ENSMUSG00000005474

Gene Name

myosin, light chain 10, regulatory

Synonyms

PLRLC-C, 1700027I08Rik, PLRLC, PLRLC-A, Mylc2pl, PLRLC-B

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136693146-136701094 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 136697971 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 70 (V70L)

Ref Sequence

ENSEMBL: ENSMUSP00000143165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005611] [ENSMUST00000196068] [ENSMUST00000196436] [ENSMUST00000197186]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005611
AA Change: V86L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
AA Change: V86L

Domain	Start	End	E-Value	Type
EFh	9	37	1.5e-5	SMART
EFh	79	107	3.16e1	SMART
Blast:EFh	115	143	6e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000196068
AA Change: K115N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
AA Change: K115N

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	9	37	9.4e-7	PFAM
Pfam:EF-hand_6	9	40	9.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196436
AA Change: V70L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
AA Change: V70L

Domain	Start	End	E-Value	Type
Pfam:EF-hand_6	1	24	5.4e-3	PFAM
Pfam:EF-hand_8	5	39	1.3e-3	PFAM
Blast:EFh	63	91	1e-11	BLAST
Blast:EFh	99	127	4e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000197186
AA Change: V70L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
AA Change: V70L

Domain	Start	End	E-Value	Type
Pfam:EF-hand_6	1	24	5.4e-3	PFAM
Pfam:EF-hand_8	5	39	1.3e-3	PFAM
Blast:EFh	63	91	1e-11	BLAST
Blast:EFh	99	127	4e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199074

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably damaging	Het

Other mutations in Myl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03206:Myl10	APN	5	136697942	nonsense	probably null
G1Funyon:Myl10	UTSW	5	136697971	missense	probably benign	0.00
PIT4243001:Myl10	UTSW	5	136694293	missense	probably benign	0.05
R4066:Myl10	UTSW	5	136695450	missense	probably damaging	1.00
R5712:Myl10	UTSW	5	136694238	missense	probably damaging	1.00
R6322:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R6566:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R6756:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R6757:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R6894:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7033:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7152:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7242:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7411:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7484:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7535:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7537:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7630:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7631:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7635:Myl10	UTSW	5	136700864	missense	probably benign	0.00
R7764:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7829:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R7969:Myl10	UTSW	5	136700853	critical splice acceptor site	probably null
R8065:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8066:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8067:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8202:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8203:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8204:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8206:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8217:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8248:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8300:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8301:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8343:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8731:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8732:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R8831:Myl10	UTSW	5	136697971	missense	probably benign	0.00
R9324:Myl10	UTSW	5	136700933	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'

Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'

Posted On

2018-04-02