Incidental Mutation 'PIT4243001:Myl10'
| ID |
554454 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4243001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
136722000-136729948 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136723147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 32
(D32G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005611
(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: D32G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
AA Change: D32G
| 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: D32G
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
AA Change: D32G
| 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: D16G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
AA Change: D16G
| 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: D16G
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
AA Change: D16G
| 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 |
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 85.2%
- 20x: 74.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,999 (GRCm39) |
E252V |
possibly damaging |
Het |
| Abhd13 |
T |
C |
8: 10,037,967 (GRCm39) |
F188S |
possibly damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,708 (GRCm39) |
V225A |
probably benign |
Het |
| Accs |
A |
G |
2: 93,671,679 (GRCm39) |
M237T |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,271 (GRCm39) |
I380T |
probably damaging |
Het |
| Add3 |
T |
C |
19: 53,225,121 (GRCm39) |
S414P |
probably benign |
Het |
| Ak3 |
C |
T |
19: 29,015,271 (GRCm39) |
|
probably null |
Het |
| Atg14 |
T |
C |
14: 47,792,031 (GRCm39) |
E132G |
possibly damaging |
Het |
| Bcl2l11 |
A |
G |
2: 127,989,026 (GRCm39) |
E135G |
probably benign |
Het |
| Brwd1 |
G |
A |
16: 95,803,871 (GRCm39) |
Q2100* |
probably null |
Het |
| Card11 |
A |
C |
5: 140,894,359 (GRCm39) |
V90G |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,709,507 (GRCm39) |
V1451A |
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,113,723 (GRCm39) |
I291T |
probably damaging |
Het |
| Clk1 |
C |
T |
1: 58,458,836 (GRCm39) |
D179N |
probably damaging |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,302 (GRCm39) |
L454P |
probably damaging |
Het |
| Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,883,446 (GRCm39) |
S663P |
unknown |
Het |
| Erich6 |
G |
A |
3: 58,537,300 (GRCm39) |
T238I |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,489 (GRCm39) |
H132Q |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,707,858 (GRCm39) |
C704R |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,575,141 (GRCm39) |
R531W |
possibly damaging |
Het |
| Ism2 |
T |
C |
12: 87,333,832 (GRCm39) |
E71G |
probably benign |
Het |
| Lipe |
A |
C |
7: 25,094,971 (GRCm39) |
S22A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,705 (GRCm39) |
H179R |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,379 (GRCm39) |
F178S |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,394 (GRCm39) |
F305S |
probably benign |
Het |
| Pdpn |
T |
A |
4: 142,997,108 (GRCm39) |
T129S |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,582 (GRCm39) |
V135I |
possibly damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,807,134 (GRCm39) |
N199K |
probably damaging |
Het |
| Skil |
T |
C |
3: 31,167,714 (GRCm39) |
S449P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,892,540 (GRCm39) |
L107P |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,087 (GRCm39) |
M430T |
probably damaging |
Het |
| Tnfaip3 |
G |
A |
10: 18,887,322 (GRCm39) |
L68F |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,733,781 (GRCm39) |
R878H |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,467,480 (GRCm39) |
S476P |
probably damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,802,379 (GRCm39) |
M499L |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,638,631 (GRCm39) |
T571A |
probably damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,096 (GRCm39) |
G948V |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,841,975 (GRCm39) |
I852V |
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 |
|
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 |
|
R7764:Myl10
|
UTSW |
5 |
136,726,825 (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'- TTCAGAGAGGGTTCCCAGGATG -3'
(R):5'- AGCCACCAAGTCCTCTTGTC -3'
Sequencing Primer
(F):5'- TAAATTGGAGACCTGGGCGCTTAC -3'
(R):5'- CAAGTCCTCTTGTCACATTGGAAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation