Incidental Mutation 'R1763:Eps8l1'
| ID |
193195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4474822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 268
(V268L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000167810]
[ENSMUST00000170635]
[ENSMUST00000169820]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
AA Change: V268L
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: V268L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163137
|
| SMART Domains |
Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163893
AA Change: V268L
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: V268L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167068
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171445
AA Change: V329L
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: V329L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
96 |
226 |
5.8e-46 |
PFAM |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
SH3
|
541 |
596 |
2.62e-11 |
SMART |
|
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
693 |
759 |
1e-19 |
PDB |
|
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167810
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170635
|
| SMART Domains |
Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169820
|
| SMART Domains |
Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.1567 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
98% (85/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,396,529 (GRCm39) |
V401A |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,904,330 (GRCm39) |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,957,479 (GRCm39) |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,765,683 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 66,797,463 (GRCm39) |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,214,150 (GRCm39) |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,215 (GRCm39) |
F321I |
probably benign |
Het |
| Atp5pb |
A |
G |
3: 105,858,905 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,803,060 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,821,153 (GRCm39) |
V1121A |
probably benign |
Het |
| Cad |
G |
A |
5: 31,218,295 (GRCm39) |
V460I |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,744,619 (GRCm39) |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,393,795 (GRCm39) |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,727,143 (GRCm39) |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,187 (GRCm39) |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 62,749,000 (GRCm39) |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,872,388 (GRCm39) |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,879,025 (GRCm39) |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,794,263 (GRCm39) |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,401,841 (GRCm39) |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,424,045 (GRCm39) |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,947,535 (GRCm39) |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,686,497 (GRCm39) |
G15R |
probably benign |
Het |
| F2 |
A |
C |
2: 91,465,251 (GRCm39) |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,329,832 (GRCm39) |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,940,396 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Gabbr1 |
T |
G |
17: 37,365,659 (GRCm39) |
S158A |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,200,525 (GRCm39) |
N295S |
probably damaging |
Het |
| Gm6408 |
A |
T |
5: 146,419,132 (GRCm39) |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,866 (GRCm39) |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,204,602 (GRCm39) |
D59G |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,876,553 (GRCm39) |
|
probably null |
Het |
| Ifi27l2a |
C |
T |
12: 103,403,941 (GRCm39) |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,343 (GRCm39) |
N329S |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,193,614 (GRCm39) |
T479A |
probably benign |
Het |
| Krt12 |
T |
A |
11: 99,306,886 (GRCm39) |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,743,025 (GRCm39) |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,401 (GRCm39) |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,039,917 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,004,852 (GRCm39) |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,225,402 (GRCm39) |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,888,408 (GRCm39) |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,366,644 (GRCm39) |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,759,087 (GRCm39) |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,614 (GRCm39) |
S1733T |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,321 (GRCm39) |
F102L |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,780 (GRCm39) |
I211V |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,711,473 (GRCm39) |
G101E |
probably damaging |
Het |
| Or6z1 |
T |
G |
7: 6,504,440 (GRCm39) |
I262L |
probably benign |
Het |
| Or8b44 |
A |
G |
9: 38,410,334 (GRCm39) |
Y123C |
probably damaging |
Het |
| Paqr7 |
A |
T |
4: 134,234,409 (GRCm39) |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,019,543 (GRCm39) |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,620,911 (GRCm39) |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,179,028 (GRCm39) |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,886,340 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,368 (GRCm39) |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,841,566 (GRCm39) |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,980,863 (GRCm39) |
R154Q |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,178,628 (GRCm39) |
D1449G |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 44,990,044 (GRCm39) |
R708* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,181,254 (GRCm39) |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,162,041 (GRCm39) |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,158 (GRCm39) |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,758,457 (GRCm39) |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,890,373 (GRCm39) |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,503,744 (GRCm39) |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,662,518 (GRCm39) |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,735,856 (GRCm39) |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,229,565 (GRCm39) |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,196,116 (GRCm39) |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,522,266 (GRCm39) |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,102,243 (GRCm39) |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,350,909 (GRCm39) |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,594,801 (GRCm39) |
L388P |
possibly damaging |
Het |
|
| Other mutations in Eps8l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Eps8l1
|
APN |
7 |
4,481,919 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01455:Eps8l1
|
APN |
7 |
4,481,922 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01872:Eps8l1
|
APN |
7 |
4,475,295 (GRCm39) |
splice site |
probably benign |
|
|
IGL02343:Eps8l1
|
APN |
7 |
4,475,123 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02585:Eps8l1
|
APN |
7 |
4,472,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Eps8l1
|
APN |
7 |
4,473,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02673:Eps8l1
|
APN |
7 |
4,481,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Eps8l1
|
APN |
7 |
4,473,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Anamnestic
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
souvenir
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
PIT4142001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4151001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4480001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0015:Eps8l1
|
UTSW |
7 |
4,480,556 (GRCm39) |
splice site |
probably benign |
|
|
R0599:Eps8l1
|
UTSW |
7 |
4,480,956 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0686:Eps8l1
|
UTSW |
7 |
4,480,449 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0827:Eps8l1
|
UTSW |
7 |
4,480,388 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1015:Eps8l1
|
UTSW |
7 |
4,472,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Eps8l1
|
UTSW |
7 |
4,477,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Eps8l1
|
UTSW |
7 |
4,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1527:Eps8l1
|
UTSW |
7 |
4,474,393 (GRCm39) |
missense |
probably benign |
|
|
R1553:Eps8l1
|
UTSW |
7 |
4,480,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1863:Eps8l1
|
UTSW |
7 |
4,468,359 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2357:Eps8l1
|
UTSW |
7 |
4,473,354 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3153:Eps8l1
|
UTSW |
7 |
4,474,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Eps8l1
|
UTSW |
7 |
4,473,797 (GRCm39) |
splice site |
probably null |
|
|
R4539:Eps8l1
|
UTSW |
7 |
4,481,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Eps8l1
|
UTSW |
7 |
4,476,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Eps8l1
|
UTSW |
7 |
4,463,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4931:Eps8l1
|
UTSW |
7 |
4,474,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5245:Eps8l1
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5247:Eps8l1
|
UTSW |
7 |
4,473,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Eps8l1
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5420:Eps8l1
|
UTSW |
7 |
4,473,160 (GRCm39) |
splice site |
probably null |
|
|
R5620:Eps8l1
|
UTSW |
7 |
4,463,945 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5705:Eps8l1
|
UTSW |
7 |
4,473,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6063:Eps8l1
|
UTSW |
7 |
4,474,296 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6909:Eps8l1
|
UTSW |
7 |
4,472,899 (GRCm39) |
nonsense |
probably null |
|
|
R7096:Eps8l1
|
UTSW |
7 |
4,477,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7136:Eps8l1
|
UTSW |
7 |
4,480,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Eps8l1
|
UTSW |
7 |
4,475,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Eps8l1
|
UTSW |
7 |
4,473,437 (GRCm39) |
splice site |
probably null |
|
|
R7539:Eps8l1
|
UTSW |
7 |
4,473,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Eps8l1
|
UTSW |
7 |
4,475,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Eps8l1
|
UTSW |
7 |
4,471,866 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8190:Eps8l1
|
UTSW |
7 |
4,474,297 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8311:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Eps8l1
|
UTSW |
7 |
4,473,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Eps8l1
|
UTSW |
7 |
4,481,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Eps8l1
|
UTSW |
7 |
4,464,016 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9023:Eps8l1
|
UTSW |
7 |
4,477,042 (GRCm39) |
nonsense |
probably null |
|
|
R9131:Eps8l1
|
UTSW |
7 |
4,480,573 (GRCm39) |
missense |
|
|
|
R9517:Eps8l1
|
UTSW |
7 |
4,480,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Eps8l1
|
UTSW |
7 |
4,481,886 (GRCm39) |
missense |
unknown |
|
|
X0060:Eps8l1
|
UTSW |
7 |
4,473,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGTCAGTCTTGGAGTGGGGAAC -3'
(R):5'- AAACACCCAAACGGGTGGCCTTAG -3'
Sequencing Primer
(F):5'- CTAGCTGACAAGATGCTGGGTC -3'
(R):5'- TGGCCTTAGGAAGTCAGACC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation