Incidental Mutation 'R7449:Eva1c'
ID |
577600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eva1c
|
Ensembl Gene |
ENSMUSG00000039903 |
Gene Name |
eva-1 homolog C |
Synonyms |
4931408A02Rik, 1700092M14Rik, Fam176c |
MMRRC Submission |
045524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
90623607-90701997 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 90673081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037539]
[ENSMUST00000037539]
[ENSMUST00000037539]
[ENSMUST00000099543]
[ENSMUST00000099543]
[ENSMUST00000099543]
[ENSMUST00000099548]
[ENSMUST00000099548]
[ENSMUST00000099548]
[ENSMUST00000130868]
[ENSMUST00000130868]
[ENSMUST00000130868]
[ENSMUST00000152223]
[ENSMUST00000152223]
[ENSMUST00000152223]
[ENSMUST00000154180]
[ENSMUST00000154180]
[ENSMUST00000154180]
[ENSMUST00000231280]
[ENSMUST00000231280]
[ENSMUST00000231280]
[ENSMUST00000231964]
[ENSMUST00000231964]
[ENSMUST00000231964]
|
AlphaFold |
P58659 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037539
|
SMART Domains |
Protein: ENSMUSP00000036695 Gene: ENSMUSG00000039903
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: ENSMUST00000037539
|
SMART Domains |
Protein: ENSMUSP00000036695 Gene: ENSMUSG00000039903
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: ENSMUST00000037539
|
SMART Domains |
Protein: ENSMUSP00000036695 Gene: ENSMUSG00000039903
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
|
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 null
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 null
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 null
Transcript: ENSMUST00000099548
|
SMART Domains |
Protein: ENSMUSP00000097145 Gene: ENSMUSG00000039903
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 null
Transcript: ENSMUST00000099548
|
SMART Domains |
Protein: ENSMUSP00000097145 Gene: ENSMUSG00000039903
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 null
Transcript: ENSMUST00000099548
|
SMART Domains |
Protein: ENSMUSP00000097145 Gene: ENSMUSG00000039903
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: 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: 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: 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: ENSMUST00000152223
|
SMART Domains |
Protein: ENSMUSP00000119510 Gene: ENSMUSG00000039903
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000231280
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231280
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231280
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232665
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231964
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231964
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232274
|
Meta Mutation Damage Score |
0.9473 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,035,131 (GRCm39) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,647,192 (GRCm39) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,600,585 (GRCm39) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,018,348 (GRCm39) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,907,561 (GRCm39) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,628,251 (GRCm39) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,501,865 (GRCm39) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,009,336 (GRCm39) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,310 (GRCm39) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,762,647 (GRCm39) |
I289T |
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,880,515 (GRCm39) |
E224D |
probably benign |
Het |
Dysf |
T |
C |
6: 84,114,362 (GRCm39) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,647,469 (GRCm39) |
N339K |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,574,730 (GRCm39) |
E293G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,380,956 (GRCm39) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,415,997 (GRCm39) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm39) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 36,853,538 (GRCm39) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,729,838 (GRCm39) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,654,345 (GRCm39) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,450 (GRCm39) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,185,014 (GRCm39) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,993,340 (GRCm39) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,366,345 (GRCm39) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,408,887 (GRCm39) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,545,482 (GRCm39) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,503,487 (GRCm39) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,005,375 (GRCm39) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,557,285 (GRCm39) |
L125P |
probably damaging |
Het |
Nid1 |
T |
G |
13: 13,656,636 (GRCm39) |
V589G |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,116,951 (GRCm39) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,376,940 (GRCm39) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,063 (GRCm39) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,417,026 (GRCm39) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,162 (GRCm39) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,639,524 (GRCm39) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,603,625 (GRCm39) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,344,419 (GRCm39) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,612,996 (GRCm39) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,126,326 (GRCm39) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 37,275,275 (GRCm39) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,922,452 (GRCm39) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,701,395 (GRCm39) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 100,959,860 (GRCm39) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,589,765 (GRCm39) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 76,058,860 (GRCm39) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,376,578 (GRCm39) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,561,235 (GRCm39) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,091 (GRCm39) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,134,290 (GRCm39) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,554,992 (GRCm39) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,523,420 (GRCm39) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,404,263 (GRCm39) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,335 (GRCm39) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,723 (GRCm39) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,788,019 (GRCm39) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,721,067 (GRCm39) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 47,275,714 (GRCm39) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,172,280 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,869 (GRCm39) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,599,407 (GRCm39) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 95,954,448 (GRCm39) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 108,992,367 (GRCm39) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,310 (GRCm39) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,191,232 (GRCm39) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,637,985 (GRCm39) |
Q53R |
possibly 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 |
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'- TGCTTCCTCTCCAGATGAGTTG -3'
(R):5'- CTCGCAACTGCAGAACTTGTAC -3'
Sequencing Primer
(F):5'- CTTCCTCTCCAGATGAGTTGAAAAAC -3'
(R):5'- GATGAGTTCCCAGTGCCTAGAAC -3'
|
Posted On |
2019-10-07 |