Incidental Mutation 'R0970:Eno3'
| ID |
84029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno3
|
| Ensembl Gene |
ENSMUSG00000060600 |
| Gene Name |
enolase 3, beta muscle |
| Synonyms |
Eno-3 |
| MMRRC Submission |
039099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.815)
|
| Stock # |
R0970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70548028-70553339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70551628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 196
(I196T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000072841]
[ENSMUST00000108548]
[ENSMUST00000126241]
[ENSMUST00000129434]
[ENSMUST00000170716]
[ENSMUST00000157027]
[ENSMUST00000134087]
|
| AlphaFold |
P21550 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018431
|
| SMART Domains |
Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
31 |
109 |
3.85e-21 |
SMART |
|
low complexity region
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072841
AA Change: I196T
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: I196T
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108548
AA Change: I196T
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: I196T
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126241
|
| SMART Domains |
Protein: ENSMUSP00000123688
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
70 |
7.82e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129434
|
| SMART Domains |
Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
22 |
99 |
3.06e-15 |
SMART |
|
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131642
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170716
AA Change: I196T
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: I196T
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000157027
AA Change: I196T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600
AA Change: I196T
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Pfam:Enolase_C
|
142 |
196 |
1e-29 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000179055
AA Change: I10T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134087
|
| SMART Domains |
Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
78 |
3.53e-26 |
SMART |
|
| Meta Mutation Damage Score |
0.9298 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: This gene encodes one of the three enolase isoenzymes found in vertebrates. Enolase is a dimeric enzyme that converts 2-phosphoglycerate to phosphoenolpyruvate as part of the glycolytic pathway. This isozyme is found in skeletal muscle where it is involved in muscle development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
| Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,157,652 (GRCm39) |
K184E |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
| Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
| Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
| Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
| Ppm1f |
T |
C |
16: 16,721,457 (GRCm39) |
|
probably null |
Het |
| Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
| Slc10a2 |
C |
G |
8: 5,155,115 (GRCm39) |
E23D |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
| Stradb |
C |
T |
1: 59,016,219 (GRCm39) |
L3F |
possibly damaging |
Het |
| Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
| Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
| Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
probably damaging |
Het |
|
| Other mutations in Eno3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02479:Eno3
|
APN |
11 |
70,551,714 (GRCm39) |
splice site |
probably benign |
|
|
IGL02591:Eno3
|
APN |
11 |
70,552,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Eno3
|
APN |
11 |
70,552,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060_eno3_205
|
UTSW |
11 |
70,552,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0242:Eno3
|
UTSW |
11 |
70,548,761 (GRCm39) |
missense |
probably null |
1.00 |
|
R0242:Eno3
|
UTSW |
11 |
70,548,761 (GRCm39) |
missense |
probably null |
1.00 |
|
R1518:Eno3
|
UTSW |
11 |
70,551,903 (GRCm39) |
nonsense |
probably null |
|
|
R1587:Eno3
|
UTSW |
11 |
70,552,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1663:Eno3
|
UTSW |
11 |
70,553,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1675:Eno3
|
UTSW |
11 |
70,549,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1758:Eno3
|
UTSW |
11 |
70,552,251 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3983:Eno3
|
UTSW |
11 |
70,552,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4990:Eno3
|
UTSW |
11 |
70,549,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4992:Eno3
|
UTSW |
11 |
70,549,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5170:Eno3
|
UTSW |
11 |
70,553,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6116:Eno3
|
UTSW |
11 |
70,552,401 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6917:Eno3
|
UTSW |
11 |
70,552,262 (GRCm39) |
missense |
probably benign |
|
|
R7060:Eno3
|
UTSW |
11 |
70,552,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7128:Eno3
|
UTSW |
11 |
70,549,430 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7678:Eno3
|
UTSW |
11 |
70,549,993 (GRCm39) |
splice site |
probably null |
|
|
R7696:Eno3
|
UTSW |
11 |
70,552,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7954:Eno3
|
UTSW |
11 |
70,552,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8969:Eno3
|
UTSW |
11 |
70,551,691 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGAGCACCAACTTCTGTGTC -3'
(R):5'- ATCCATGCCGATCACCACCTTG -3'
Sequencing Primer
(F):5'- AACTTCTGTGTCCCAGGC -3'
(R):5'- CTGTCTTTAGCAGCTCCAGGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation