Incidental Mutation 'IGL00514:Yes1'
| ID |
6454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yes1
|
| Ensembl Gene |
ENSMUSG00000014932 |
| Gene Name |
YES proto-oncogene 1, Src family tyrosine kinase |
| Synonyms |
Yes |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
IGL00514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
32768515-32844401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32812473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 248
(K248Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072311]
[ENSMUST00000168707]
[ENSMUST00000200999]
[ENSMUST00000202543]
|
| AlphaFold |
Q04736 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072311
AA Change: K248Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000072154
Gene: ENSMUSG00000014932
AA Change: K248Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
SH3
|
92 |
149 |
5.03e-22 |
SMART |
|
SH2
|
154 |
244 |
8.4e-35 |
SMART |
|
TyrKc
|
275 |
524 |
8.39e-131 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168707
AA Change: K248Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132161
Gene: ENSMUSG00000014932
AA Change: K248Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
SH3
|
92 |
149 |
5.03e-22 |
SMART |
|
SH2
|
154 |
244 |
8.4e-35 |
SMART |
|
TyrKc
|
275 |
524 |
8.39e-131 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200999
|
| SMART Domains |
Protein: ENSMUSP00000144355
Gene: ENSMUSG00000014932
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
SH3
|
92 |
149 |
3.1e-24 |
SMART |
|
SH2
|
154 |
198 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202543
AA Change: K248Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144001
Gene: ENSMUSG00000014932
AA Change: K248Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
SH3
|
92 |
149 |
5.03e-22 |
SMART |
|
SH2
|
154 |
244 |
8.4e-35 |
SMART |
|
TyrKc
|
275 |
524 |
8.39e-131 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,141 (GRCm39) |
E75G |
unknown |
Het |
| Ank3 |
T |
C |
10: 69,818,035 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,645,390 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,821 (GRCm39) |
F436I |
probably benign |
Het |
| Blmh |
A |
G |
11: 76,857,839 (GRCm39) |
D327G |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,628,752 (GRCm39) |
H310Q |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,576,013 (GRCm39) |
K110E |
unknown |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,939 (GRCm39) |
D293G |
probably damaging |
Het |
| Ears2 |
T |
A |
7: 121,638,985 (GRCm39) |
K480* |
probably null |
Het |
| Efhc1 |
C |
T |
1: 21,049,705 (GRCm39) |
Q522* |
probably null |
Het |
| Ehd4 |
G |
A |
2: 119,921,694 (GRCm39) |
P521S |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,382,291 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
G |
7: 129,769,441 (GRCm39) |
T648P |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,513,922 (GRCm39) |
Y329C |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,929,590 (GRCm39) |
S1308T |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,998,566 (GRCm39) |
T259S |
possibly damaging |
Het |
| Ms4a4c |
C |
T |
19: 11,396,400 (GRCm39) |
A111V |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,110,610 (GRCm39) |
R1507M |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,256,384 (GRCm39) |
D210N |
probably benign |
Het |
| Neo1 |
G |
T |
9: 58,829,202 (GRCm39) |
|
probably benign |
Het |
| Nipsnap2 |
A |
G |
5: 129,831,915 (GRCm39) |
D236G |
probably damaging |
Het |
| Plekhh2 |
G |
T |
17: 84,903,734 (GRCm39) |
|
probably null |
Het |
| Prox2 |
A |
T |
12: 85,141,552 (GRCm39) |
M217K |
probably benign |
Het |
| Rgl2 |
G |
A |
17: 34,152,110 (GRCm39) |
G299E |
probably benign |
Het |
| Rragb |
T |
G |
X: 151,954,294 (GRCm39) |
C370W |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,393,945 (GRCm39) |
N209K |
probably damaging |
Het |
| Sec61g |
A |
T |
11: 16,451,817 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,567,105 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
T |
11: 60,669,193 (GRCm39) |
K114* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,298,397 (GRCm39) |
L730P |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,280 (GRCm39) |
L183P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,388,155 (GRCm39) |
C637S |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,090,437 (GRCm39) |
Y257N |
probably damaging |
Het |
| Trpm3 |
C |
T |
19: 22,965,023 (GRCm39) |
T1506M |
probably benign |
Het |
| Zfp638 |
A |
T |
6: 83,933,680 (GRCm39) |
K811N |
probably damaging |
Het |
|
| Other mutations in Yes1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02816:Yes1
|
APN |
5 |
32,802,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Yes1
|
APN |
5 |
32,818,112 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4696001:Yes1
|
UTSW |
5 |
32,841,969 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0139:Yes1
|
UTSW |
5 |
32,842,039 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0481:Yes1
|
UTSW |
5 |
32,797,749 (GRCm39) |
nonsense |
probably null |
|
|
R0486:Yes1
|
UTSW |
5 |
32,812,926 (GRCm39) |
nonsense |
probably null |
|
|
R0526:Yes1
|
UTSW |
5 |
32,812,584 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0648:Yes1
|
UTSW |
5 |
32,812,862 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1083:Yes1
|
UTSW |
5 |
32,809,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1463:Yes1
|
UTSW |
5 |
32,809,046 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1569:Yes1
|
UTSW |
5 |
32,810,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Yes1
|
UTSW |
5 |
32,802,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Yes1
|
UTSW |
5 |
32,842,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2183:Yes1
|
UTSW |
5 |
32,802,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Yes1
|
UTSW |
5 |
32,797,926 (GRCm39) |
missense |
probably benign |
|
|
R2914:Yes1
|
UTSW |
5 |
32,797,926 (GRCm39) |
missense |
probably benign |
|
|
R3104:Yes1
|
UTSW |
5 |
32,810,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Yes1
|
UTSW |
5 |
32,797,929 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4736:Yes1
|
UTSW |
5 |
32,818,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4939:Yes1
|
UTSW |
5 |
32,802,457 (GRCm39) |
splice site |
probably null |
|
|
R6187:Yes1
|
UTSW |
5 |
32,802,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Yes1
|
UTSW |
5 |
32,809,030 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6467:Yes1
|
UTSW |
5 |
32,810,381 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7578:Yes1
|
UTSW |
5 |
32,802,430 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7756:Yes1
|
UTSW |
5 |
32,842,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Yes1
|
UTSW |
5 |
32,802,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8224:Yes1
|
UTSW |
5 |
32,816,417 (GRCm39) |
missense |
probably benign |
|
|
R9043:Yes1
|
UTSW |
5 |
32,810,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Yes1
|
UTSW |
5 |
32,810,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation