Incidental Mutation 'IGL01477:Etv4'
| ID |
88496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Etv4
|
| Ensembl Gene |
ENSMUSG00000017724 |
| Gene Name |
ets variant 4 |
| Synonyms |
Pea-3, Pea3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.600)
|
| Stock # |
IGL01477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101660568-101676197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101667954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 74
(D74G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017868]
[ENSMUST00000107176]
[ENSMUST00000164750]
|
| AlphaFold |
P28322 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017868
AA Change: D74G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000017868
Gene: ENSMUSG00000017724
AA Change: D74G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
5 |
341 |
6.5e-121 |
PFAM |
|
ETS
|
342 |
427 |
2.4e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107176
AA Change: D74G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102794
Gene: ENSMUSG00000017724
AA Change: D74G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
6 |
335 |
2.7e-118 |
PFAM |
|
ETS
|
336 |
421 |
2.4e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132040
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164750
AA Change: D74G
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129261
Gene: ENSMUSG00000017724
AA Change: D74G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ETS_PEA3_N
|
6 |
340 |
5.1e-121 |
PFAM |
|
ETS
|
341 |
426 |
2.4e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140970
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit male infertility due to failure to ejaculate, impaired branching of motor neurons, and abnormal mammary gland terminal differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
G |
19: 45,967,043 (GRCm39) |
F33S |
probably damaging |
Het |
| Aven |
T |
C |
2: 112,460,277 (GRCm39) |
S132P |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,263,672 (GRCm39) |
T1233M |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,140 (GRCm39) |
E383G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,352,985 (GRCm39) |
K432E |
possibly damaging |
Het |
| Elapor2 |
A |
T |
5: 9,487,756 (GRCm39) |
K547N |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,143,572 (GRCm39) |
|
probably benign |
Het |
| Glb1l |
A |
T |
1: 75,185,350 (GRCm39) |
I120N |
probably damaging |
Het |
| Grpel1 |
G |
A |
5: 36,627,986 (GRCm39) |
R89Q |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,451,635 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,379,683 (GRCm39) |
H195R |
probably damaging |
Het |
| Mug2 |
A |
G |
6: 122,058,643 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or8c17 |
T |
A |
9: 38,180,615 (GRCm39) |
S269T |
possibly damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,020,015 (GRCm39) |
K1346I |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,512,044 (GRCm39) |
V1421I |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,441 (GRCm39) |
D331G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,345 (GRCm39) |
N856K |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,806 (GRCm39) |
D542G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,635,154 (GRCm39) |
|
probably benign |
Het |
| Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,368,541 (GRCm39) |
N697S |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,016,689 (GRCm39) |
H731R |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,502,283 (GRCm39) |
H68R |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,882,691 (GRCm39) |
C354G |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,370,675 (GRCm39) |
Y425N |
probably benign |
Het |
|
| Other mutations in Etv4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02281:Etv4
|
APN |
11 |
101,664,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Etv4
|
APN |
11 |
101,674,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03221:Etv4
|
APN |
11 |
101,664,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Etv4
|
UTSW |
11 |
101,662,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1925:Etv4
|
UTSW |
11 |
101,662,507 (GRCm39) |
splice site |
probably benign |
|
|
R2009:Etv4
|
UTSW |
11 |
101,665,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Etv4
|
UTSW |
11 |
101,666,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4133:Etv4
|
UTSW |
11 |
101,661,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Etv4
|
UTSW |
11 |
101,666,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5629:Etv4
|
UTSW |
11 |
101,662,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5771:Etv4
|
UTSW |
11 |
101,662,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Etv4
|
UTSW |
11 |
101,675,151 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8472:Etv4
|
UTSW |
11 |
101,674,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8953:Etv4
|
UTSW |
11 |
101,662,513 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9109:Etv4
|
UTSW |
11 |
101,664,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9174:Etv4
|
UTSW |
11 |
101,662,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9188:Etv4
|
UTSW |
11 |
101,666,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Etv4
|
UTSW |
11 |
101,662,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Etv4
|
UTSW |
11 |
101,664,923 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Etv4
|
UTSW |
11 |
101,661,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation