Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Myl10'

635905

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8206 (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: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	A	T	9: 35,839,423	F34L	possibly damaging	Het
Ano4	A	G	10: 89,025,096	Y342H	probably damaging	Het
Aqp4	T	A	18: 15,393,659	D255V	possibly damaging	Het
Arhgap26	C	A	18: 39,306,750	S247*	probably null	Het
Arid4a	A	G	12: 71,086,587	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,404,478	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,389,815		probably null	Het
Ccdc38	A	G	10: 93,563,284	S205G	probably damaging	Het
Cep63	A	G	9: 102,621,271		probably benign	Het
Cyp24a1	T	C	2: 170,491,669	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,160,268	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,037,566	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,729,730	Y95C	probably damaging	Het
Erc2	G	A	14: 28,303,015		probably null	Het
Ezh2	A	T	6: 47,532,900		probably null	Het
Fgfr1	A	G	8: 25,570,242	T463A	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Fsip2	T	C	2: 82,990,464	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,851,066	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,832,974	C105F	probably damaging	Het
Hgsnat	T	C	8: 25,954,637	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,848,314	M1V	probably null	Het
Inppl1	A	G	7: 101,823,576	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,314,539	Q2191L	probably damaging	Het
Krt79	T	A	15: 101,940,270		probably null	Het
Mast4	G	A	13: 102,735,739	L2374F	probably damaging	Het
Mgam	A	G	6: 40,680,235	N951S	probably benign	Het
Naip6	A	T	13: 100,294,836	C1164*	probably null	Het
Nfatc2ip	G	T	7: 126,390,734	D189E	probably damaging	Het
Nrp1	A	G	8: 128,457,957	D361G	probably damaging	Het
Nrp2	T	C	1: 62,747,215	I293T	probably damaging	Het
Pde3a	T	C	6: 141,487,885	V831A	probably damaging	Het
Pirb	A	G	7: 3,712,906		probably null	Het
Plch1	G	T	3: 63,702,626		probably null	Het
Plekhh2	A	G	17: 84,590,849	T973A	possibly damaging	Het
Ppp1r35	T	A	5: 137,780,034	I97K	unknown	Het
Ppp1r3c	C	T	19: 36,733,446	G308E	probably benign	Het
Prss12	G	A	3: 123,464,962		probably null	Het
Rad51b	A	G	12: 79,314,941	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,406,825	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,731,530	V64G	probably benign	Het
Srp68	G	A	11: 116,273,983	R42C	probably damaging	Het
Syne2	T	C	12: 76,015,591	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,215,391	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,627,412	L583P	probably damaging	Het
Tdgf1	G	A	9: 110,944,284		probably benign	Het
Tdrd3	A	G	14: 87,511,778	D708G	probably benign	Het
Tns4	A	T	11: 99,085,801	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,392,455		probably null	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
R6321:Myl10	UTSW	5	136697971	missense	probably benign	0.00
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
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'- CATGCTGTGTAATGATGCAGCTG -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'

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

Posted On

2020-07-13