Incidental Mutation 'R8687:Eva1c'
| ID |
662098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eva1c
|
| Ensembl Gene |
ENSMUSG00000039903 |
| Gene Name |
eva-1 homolog C |
| Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
| MMRRC Submission |
068542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90687433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 223
(T223K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037539]
[ENSMUST00000099543]
[ENSMUST00000099548]
[ENSMUST00000130868]
[ENSMUST00000152223]
[ENSMUST00000154180]
[ENSMUST00000231280]
[ENSMUST00000231964]
|
| AlphaFold |
P58659 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037539
AA Change: T217K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: T217K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
| 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: T223K
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: T223K
| 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: ENSMUST00000154180
AA Change: T122K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903
AA Change: T122K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gal_Lectin
|
1 |
63 |
2.9e-13 |
PFAM |
|
Pfam:Gal_Lectin
|
81 |
145 |
3.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231280
AA Change: T110K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231964
AA Change: T122K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
92% (22/24) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap45 |
C |
T |
10: 79,852,621 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
A |
G |
17: 34,169,819 (GRCm39) |
S140P |
probably damaging |
Het |
| Cog6 |
C |
T |
3: 52,892,338 (GRCm39) |
V624I |
probably benign |
Het |
| Cysrt1 |
A |
G |
2: 25,129,399 (GRCm39) |
S38P |
possibly damaging |
Het |
| Eme2 |
C |
T |
17: 25,113,813 (GRCm39) |
V71M |
possibly damaging |
Het |
| Gm3633 |
A |
T |
14: 42,462,648 (GRCm39) |
L81H |
|
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Iqch |
A |
T |
9: 63,432,067 (GRCm39) |
W443R |
probably damaging |
Het |
| Itgb1 |
T |
C |
8: 129,442,697 (GRCm39) |
V294A |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,345,620 (GRCm39) |
K407* |
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,075,759 (GRCm39) |
S377P |
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,936,438 (GRCm39) |
S1363P |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,435,636 (GRCm39) |
R962S |
probably benign |
Het |
| Pnma8a |
T |
G |
7: 16,694,520 (GRCm39) |
V125G |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,740,136 (GRCm39) |
P432S |
possibly damaging |
Het |
| Rhobtb2 |
G |
A |
14: 70,038,104 (GRCm39) |
T52I |
probably damaging |
Het |
| Slco1a8 |
C |
T |
6: 141,939,991 (GRCm39) |
G171S |
probably damaging |
Het |
| Spop |
G |
A |
11: 95,361,337 (GRCm39) |
|
probably benign |
Het |
| Stam |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TGCTGCTGCTGCTG |
2: 14,151,096 (GRCm39) |
|
probably benign |
Het |
| Stam |
CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
CCTGCCGCTGCTGCTGCTG |
2: 14,151,091 (GRCm39) |
|
probably benign |
Het |
| Tmem102 |
T |
C |
11: 69,695,441 (GRCm39) |
H177R |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,477,170 (GRCm39) |
T748A |
possibly damaging |
Het |
| Ttc27 |
T |
A |
17: 75,046,679 (GRCm39) |
Y247N |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,288,776 (GRCm39) |
I292T |
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 |
|
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 |
|
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'- CTTAAGTCAAACTCAGGGCTCC -3'
(R):5'- GGACACGGCTATCAATTCCC -3'
Sequencing Primer
(F):5'- CTCCCTAGGTACTGATGGCTAAG -3'
(R):5'- GGCTATCAATTCCCTACCAGGTACG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation