Incidental Mutation 'R4076:Eva1c'
ID |
316581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eva1c
|
Ensembl Gene |
ENSMUSG00000039903 |
Gene Name |
eva-1 homolog C |
Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
MMRRC Submission |
040975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R4076 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90701019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 331
(F331Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037539]
[ENSMUST00000099543]
[ENSMUST00000099548]
[ENSMUST00000130868]
[ENSMUST00000152223]
[ENSMUST00000231280]
[ENSMUST00000231964]
|
AlphaFold |
P58659 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037539
AA Change: F325Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036695 Gene: ENSMUSG00000039903 AA Change: F325Y
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
Pfam:Gal_Lectin
|
75 |
158 |
1.8e-22 |
PFAM |
Pfam:Gal_Lectin
|
176 |
259 |
2e-21 |
PFAM |
Pfam:FAM176
|
300 |
440 |
3e-59 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099543
AA Change: F277Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097141 Gene: ENSMUSG00000039903 AA Change: F277Y
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
Pfam:Gal_Lectin
|
75 |
158 |
4.9e-20 |
PFAM |
internal_repeat_1
|
163 |
203 |
8.79e-5 |
PROSPERO |
Pfam:FAM176
|
252 |
392 |
5.8e-52 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099548
AA Change: F331Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097145 Gene: ENSMUSG00000039903 AA Change: F331Y
Domain | Start | End | E-Value | Type |
Pfam:Gal_Lectin
|
1 |
63 |
1.5e-12 |
PFAM |
Pfam:Gal_Lectin
|
81 |
164 |
6.5e-21 |
PFAM |
Pfam:FAM176
|
205 |
345 |
1.1e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130868
|
SMART Domains |
Protein: ENSMUSP00000121430 Gene: ENSMUSG00000039903
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152223
|
SMART Domains |
Protein: ENSMUSP00000119510 Gene: ENSMUSG00000039903
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231280
AA Change: F218Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231964
AA Change: F230Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232274
|
Meta Mutation Damage Score |
0.1168 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit an abnormal pupilary reflex in response to dilating drugs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
Het |
|
Other mutations in Eva1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01710:Eva1c
|
APN |
16 |
90,701,235 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02061:Eva1c
|
APN |
16 |
90,663,163 (GRCm39) |
nonsense |
probably null |
|
R0067:Eva1c
|
UTSW |
16 |
90,663,305 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0067:Eva1c
|
UTSW |
16 |
90,663,305 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0455:Eva1c
|
UTSW |
16 |
90,672,986 (GRCm39) |
missense |
probably benign |
0.03 |
R1330:Eva1c
|
UTSW |
16 |
90,701,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Eva1c
|
UTSW |
16 |
90,701,135 (GRCm39) |
missense |
probably benign |
0.01 |
R1824:Eva1c
|
UTSW |
16 |
90,663,331 (GRCm39) |
missense |
probably benign |
0.01 |
R1880:Eva1c
|
UTSW |
16 |
90,694,303 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2248:Eva1c
|
UTSW |
16 |
90,628,213 (GRCm39) |
missense |
probably benign |
0.12 |
R4072:Eva1c
|
UTSW |
16 |
90,701,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Eva1c
|
UTSW |
16 |
90,694,343 (GRCm39) |
critical splice donor site |
probably null |
|
R4760:Eva1c
|
UTSW |
16 |
90,701,138 (GRCm39) |
missense |
probably benign |
0.37 |
R4767:Eva1c
|
UTSW |
16 |
90,701,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Eva1c
|
UTSW |
16 |
90,673,081 (GRCm39) |
critical splice donor site |
probably null |
|
R5304:Eva1c
|
UTSW |
16 |
90,666,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R5559:Eva1c
|
UTSW |
16 |
90,701,139 (GRCm39) |
missense |
probably benign |
0.06 |
R6605:Eva1c
|
UTSW |
16 |
90,663,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7222:Eva1c
|
UTSW |
16 |
90,701,072 (GRCm39) |
small deletion |
probably benign |
|
R7409:Eva1c
|
UTSW |
16 |
90,666,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Eva1c
|
UTSW |
16 |
90,673,081 (GRCm39) |
critical splice donor site |
probably null |
|
R8489:Eva1c
|
UTSW |
16 |
90,672,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R8687:Eva1c
|
UTSW |
16 |
90,687,433 (GRCm39) |
missense |
probably benign |
0.42 |
R9091:Eva1c
|
UTSW |
16 |
90,701,231 (GRCm39) |
missense |
probably benign |
0.04 |
R9270:Eva1c
|
UTSW |
16 |
90,701,231 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGTGCTCAACCAATGG -3'
(R):5'- AACTGCGAATCCGAGGAGTC -3'
Sequencing Primer
(F):5'- CAGGTCTCGTGCTAGGAACATGATC -3'
(R):5'- GGAGTCCTCCTCTTCCAAGTC -3'
|
Posted On |
2015-05-15 |