Incidental Mutation 'R5559:Eva1c'
| ID |
436477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eva1c
|
| Ensembl Gene |
ENSMUSG00000039903 |
| Gene Name |
eva-1 homolog C |
| Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90701139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 258
(D258G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037539]
[ENSMUST00000099543]
[ENSMUST00000099548]
[ENSMUST00000130868]
[ENSMUST00000152223]
[ENSMUST00000231280]
[ENSMUST00000231964]
|
| AlphaFold |
P58659 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037539
AA Change: D365G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: D365G
| 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 benign
Transcript: ENSMUST00000099543
AA Change: D317G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: D317G
| 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 benign
Transcript: ENSMUST00000099548
AA Change: D371G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: D371G
| 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 benign
Transcript: ENSMUST00000231280
AA Change: D258G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231964
AA Change: D270G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232274
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
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 |
|
R4076: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 |
|
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'- CCTGGTCCACTGTGATGAAAAC -3'
(R):5'- ATCCAGGCCACTGTTCATCC -3'
Sequencing Primer
(F):5'- AGATTTTACCACATGAGCCTGTCG -3'
(R):5'- AGGCCACTGTTCATCCATATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation