Incidental Mutation 'IGL02281:Etv4'
| ID |
289837 |
| 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: 0.587)
|
| Stock # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101660568-101676197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101664545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 235
(Y235C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017868]
[ENSMUST00000107176]
[ENSMUST00000164750]
|
| AlphaFold |
P28322 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017868
AA Change: Y236C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017868
Gene: ENSMUSG00000017724
AA Change: Y236C
| 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 |
probably damaging
Transcript: ENSMUST00000107176
AA Change: Y230C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102794
Gene: ENSMUSG00000017724
AA Change: Y230C
| 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 |
probably damaging
Transcript: ENSMUST00000164750
AA Change: Y235C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129261
Gene: ENSMUSG00000017724
AA Change: Y235C
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
Het |
|
| Other mutations in Etv4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01477:Etv4
|
APN |
11 |
101,667,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2015-04-16 |
Incidental Mutation