Incidental Mutation 'IGL02061:Eva1c'
| ID |
185404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eva1c
|
| Ensembl Gene |
ENSMUSG00000039903 |
| Gene Name |
eva-1 homolog C |
| Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 90663163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 67
(Q67*)
|
| 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 null
Transcript: ENSMUST00000037539
AA Change: Q61*
|
| SMART Domains |
Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: Q61*
| 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 null
Transcript: ENSMUST00000099543
AA Change: Q61*
|
| SMART Domains |
Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: Q61*
| 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 null
Transcript: ENSMUST00000099548
AA Change: Q67*
|
| SMART Domains |
Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: Q67*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231964
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation