Incidental Mutation 'R1330:Eva1c'
| ID |
156158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eva1c
|
| Ensembl Gene |
ENSMUSG00000039903 |
| Gene Name |
eva-1 homolog C |
| Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
| MMRRC Submission |
039395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 90701284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 318
(E318D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155994
(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: E413D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: E413D
| 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: E365D
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: E365D
| 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: E419D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: E419D
| 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: E306D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231964
AA Change: E318D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232274
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.2%
- 10x: 92.6%
- 20x: 82.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,018 (GRCm39) |
T98A |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,085,814 (GRCm39) |
C38S |
probably benign |
Het |
| Adgrf3 |
T |
A |
5: 30,400,093 (GRCm39) |
T83S |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,227,613 (GRCm39) |
V453A |
probably benign |
Het |
| Art4 |
A |
T |
6: 136,831,339 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,882,081 (GRCm39) |
K1177R |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ddx6 |
T |
C |
9: 44,539,070 (GRCm39) |
|
probably benign |
Het |
| Dolk |
A |
T |
2: 30,175,112 (GRCm39) |
V311E |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,377,618 (GRCm39) |
N408S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,637,116 (GRCm39) |
Y1049C |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,468 (GRCm39) |
W1832R |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,263,502 (GRCm39) |
I689N |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,755 (GRCm39) |
S609P |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,167,354 (GRCm39) |
V586M |
probably benign |
Het |
| Ncstn |
C |
T |
1: 171,899,092 (GRCm39) |
M346I |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,015,251 (GRCm39) |
|
probably null |
Het |
| Pcdh12 |
A |
G |
18: 38,414,914 (GRCm39) |
V737A |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,684,542 (GRCm39) |
M600K |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,724,666 (GRCm39) |
D805G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,524,547 (GRCm39) |
T579I |
probably benign |
Het |
| Rhod |
C |
A |
19: 4,476,182 (GRCm39) |
A190S |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc22a2 |
A |
C |
17: 12,805,699 (GRCm39) |
D150A |
possibly damaging |
Het |
| Spink11 |
A |
G |
18: 44,329,195 (GRCm39) |
I17T |
unknown |
Het |
| Tas1r2 |
A |
G |
4: 139,396,640 (GRCm39) |
I660V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,637,051 (GRCm39) |
P720L |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,572 (GRCm39) |
L31H |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,963 (GRCm39) |
L772P |
probably damaging |
Het |
| Wap |
T |
C |
11: 6,586,818 (GRCm39) |
T94A |
unknown |
Het |
| Wdr47 |
T |
C |
3: 108,537,069 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,724,684 (GRCm39) |
Y2229C |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,544,262 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GGTCCTGGTCCACTGTGATGAAAAC -3'
(R):5'- CTTCACCCATCTCGGATGACAAGAC -3'
Sequencing Primer
(F):5'- tcccaaattaactctttcacacc -3'
(R):5'- TCTCGGATGACAAGACAGATTCTC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation