Incidental Mutation 'R7764:Myl10'
| ID |
598117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myl10
|
| Ensembl Gene |
ENSMUSG00000005474 |
| Gene Name |
myosin, light chain 10, regulatory |
| Synonyms |
PLRLC-B, PLRLC-A, PLRLC-C, PLRLC, 1700027I08Rik, Mylc2pl |
| MMRRC Submission |
045820-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136722000-136729948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 136726825 bp (GRCm39)
|
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
| Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
| Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
| Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
| Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
| Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
| Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
| Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
| Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,272,891 (GRCm39) |
Y834H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
| Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
| Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
| Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
| Hsd17b4 |
G |
T |
18: 50,279,482 (GRCm39) |
G154* |
probably null |
Het |
| Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
| Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,699,085 (GRCm39) |
Q65R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
| Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
| Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
| Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
| Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,919,242 (GRCm39) |
*1666W |
probably null |
Het |
| Setd1b |
G |
C |
5: 123,284,622 (GRCm39) |
R184P |
unknown |
Het |
| Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
| Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
| Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
| Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
| Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
probably benign |
Het |
|
| Other mutations in Myl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03206:Myl10
|
APN |
5 |
136,726,796 (GRCm39) |
nonsense |
probably null |
|
|
G1Funyon:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4243001:Myl10
|
UTSW |
5 |
136,723,147 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4066:Myl10
|
UTSW |
5 |
136,724,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Myl10
|
UTSW |
5 |
136,723,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6322:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6566:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6756:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6757:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7033:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7152:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7242:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7484:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7535:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7537:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7630:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7631:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7635:Myl10
|
UTSW |
5 |
136,729,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7829:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7969:Myl10
|
UTSW |
5 |
136,729,707 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8065:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8067:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8202:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8204:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8206:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8217:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8300:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8301:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8343:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8731:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8732:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Myl10
|
UTSW |
5 |
136,726,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9324:Myl10
|
UTSW |
5 |
136,729,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCAGCTGGAGTAGTTC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation