Incidental Mutation 'R8732:Myl10'
| ID |
662796 |
| 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 |
068580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| 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: 97.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,828,146 (GRCm38) |
N82K |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,628,906 (GRCm38) |
S57T |
possibly damaging |
Het |
| Aoc3 |
A |
G |
11: 101,331,817 (GRCm38) |
N293S |
probably benign |
Het |
| Aup1 |
A |
T |
6: 83,056,621 (GRCm38) |
H302L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 107,040,380 (GRCm38) |
R277W |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,758,011 (GRCm38) |
I346V |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,834,300 (GRCm38) |
T519A |
possibly damaging |
Het |
| Cela1 |
A |
G |
15: 100,682,885 (GRCm38) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 104,962,563 (GRCm38) |
V57A |
possibly damaging |
Het |
| Cpt1b |
G |
C |
15: 89,424,425 (GRCm38) |
T100S |
probably benign |
Het |
| D6Wsu163e |
A |
T |
6: 126,955,896 (GRCm38) |
I361F |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 67,846,000 (GRCm38) |
D153E |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,168,326 (GRCm38) |
R430S |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 30,032,208 (GRCm38) |
T414S |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,815,959 (GRCm38) |
G1405R |
probably damaging |
Het |
| Ergic2 |
G |
A |
6: 148,201,477 (GRCm38) |
A91V |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,469,754 (GRCm38) |
I336L |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 17,970,961 (GRCm38) |
T165A |
possibly damaging |
Het |
| Gm11639 |
T |
A |
11: 104,804,274 (GRCm38) |
F1730L |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,899,984 (GRCm38) |
I1662V |
possibly damaging |
Het |
| Gpr153 |
C |
T |
4: 152,279,101 (GRCm38) |
|
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,947,517 (GRCm38) |
A911S |
probably damaging |
Het |
| Ighd |
T |
C |
12: 113,414,563 (GRCm38) |
N139D |
|
Het |
| Klhl22 |
T |
A |
16: 17,771,826 (GRCm38) |
L117Q |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,790,117 (GRCm38) |
S1226G |
probably benign |
Het |
| Lama5 |
A |
T |
2: 180,186,688 (GRCm38) |
C2126S |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,739,689 (GRCm38) |
I468V |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,798,288 (GRCm38) |
A1253T |
unknown |
Het |
| Lta |
T |
A |
17: 35,204,069 (GRCm38) |
N93Y |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,509,770 (GRCm38) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,610,076 (GRCm38) |
|
probably null |
Het |
| Ntpcr |
A |
G |
8: 125,745,335 (GRCm38) |
M132V |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,488,853 (GRCm38) |
S233P |
probably damaging |
Het |
| Or52n1 |
A |
G |
7: 104,733,908 (GRCm38) |
M152T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,496,802 (GRCm38) |
I18T |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,933,279 (GRCm38) |
I357V |
probably benign |
Het |
| Pax7 |
G |
T |
4: 139,779,609 (GRCm38) |
H372Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,744,543 (GRCm38) |
Y966H |
probably damaging |
Het |
| Pde4b |
A |
C |
4: 102,555,625 (GRCm38) |
D199A |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,065,572 (GRCm38) |
N494D |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 143,136,010 (GRCm38) |
Q237K |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,120,405 (GRCm38) |
L1091P |
probably damaging |
Het |
| Rab9 |
C |
T |
X: 166,457,758 (GRCm38) |
D186N |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,178,527 (GRCm38) |
*414Q |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rrp9 |
C |
A |
9: 106,483,189 (GRCm38) |
T238K |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,348,586 (GRCm38) |
D630G |
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,457,018 (GRCm38) |
D295G |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,284,306 (GRCm38) |
M706K |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 94,071,688 (GRCm38) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,700,168 (GRCm38) |
Y394N |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,679,961 (GRCm38) |
L341P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,243,894 (GRCm38) |
H160Q |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,241,447 (GRCm38) |
C334S |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,829,051 (GRCm38) |
A702G |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,160,856 (GRCm38) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,868,060 (GRCm38) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,797,391 (GRCm38) |
N14736I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,707,136 (GRCm38) |
K34816R |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 24,055,465 (GRCm38) |
Q231R |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,262,177 (GRCm38) |
T255A |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,210 (GRCm38) |
I437K |
unknown |
Het |
| Ywhae |
A |
G |
11: 75,751,943 (GRCm38) |
N43D |
probably damaging |
Het |
| Zfp583 |
A |
T |
7: 6,317,211 (GRCm38) |
Y267* |
probably null |
Het |
| Zfp608 |
C |
T |
18: 54,988,000 (GRCm38) |
G172R |
probably benign |
Het |
|
| Other mutations in Myl10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03206:Myl10
|
APN |
5 |
136,697,942 (GRCm38) |
nonsense |
probably null |
|
|
G1Funyon:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4243001:Myl10
|
UTSW |
5 |
136,694,293 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4066:Myl10
|
UTSW |
5 |
136,695,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5712:Myl10
|
UTSW |
5 |
136,694,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6321:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6322:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6566:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6756:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6757:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6894:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7033:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7152:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7242:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7411:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7484:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7535:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7537:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7630:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7631:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7635:Myl10
|
UTSW |
5 |
136,700,864 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7764:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7829:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7969:Myl10
|
UTSW |
5 |
136,700,853 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8065:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8066:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8067:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8202:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8203:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8204:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8206:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8217:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8248:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8300:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8301:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8343:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8731:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8831:Myl10
|
UTSW |
5 |
136,697,971 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9324:Myl10
|
UTSW |
5 |
136,700,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'
Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation