Incidental Mutation 'R7029:Lyn'
| ID |
546172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lyn
|
| Ensembl Gene |
ENSMUSG00000042228 |
| Gene Name |
LYN proto-oncogene, Src family tyrosine kinase |
| Synonyms |
Hck-2, Yamaguchi sarcoma viral (v-yes-1) oncogene homolog |
| MMRRC Submission |
045130-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3782996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 410
(T410A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041377]
[ENSMUST00000103010]
|
| AlphaFold |
P25911 |
| PDB Structure |
Lyn Tyrosine Kinase Domain, apo form [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-AMP-PNP complex [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-PP2 complex [X-RAY DIFFRACTION]
Lyn Tyrosine Kinase Domain-Dasatinib complex [X-RAY DIFFRACTION]
Structure of unliganded Lyn SH2 domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041377
AA Change: T410A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: T410A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
66 |
122 |
9.24e-21 |
SMART |
|
SH2
|
127 |
217 |
5.38e-33 |
SMART |
|
TyrKc
|
247 |
497 |
3.25e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103010
AA Change: T389A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: T389A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
45 |
101 |
5.8e-23 |
SMART |
|
SH2
|
106 |
196 |
3.3e-35 |
SMART |
|
TyrKc
|
226 |
476 |
1.6e-139 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit splenomegaly, reduced numbers of peripheral B cells, impaired immune responses, IgM hyperglobulinemia, autoimmunity with glomerulonephritis, and monocyte/macrophage tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,841 (GRCm39) |
Q271R |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,164 (GRCm39) |
W63R |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,120,018 (GRCm39) |
M1176V |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Brox |
G |
A |
1: 183,065,750 (GRCm39) |
P206L |
possibly damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,171 (GRCm39) |
D102G |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,444,943 (GRCm39) |
K447R |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,799,773 (GRCm39) |
S726P |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,031,879 (GRCm39) |
V15I |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,409,075 (GRCm39) |
T440S |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,593,698 (GRCm39) |
D130V |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,008 (GRCm39) |
T200A |
possibly damaging |
Het |
| Habp4 |
A |
T |
13: 64,309,939 (GRCm39) |
H47L |
probably benign |
Het |
| Iqcn |
G |
T |
8: 71,161,511 (GRCm39) |
V235L |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,563 (GRCm39) |
R26S |
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,632 (GRCm39) |
D41V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,754,031 (GRCm39) |
T847A |
probably damaging |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,290 (GRCm39) |
T212N |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,251 (GRCm39) |
F491L |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,801,562 (GRCm39) |
I1206N |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,621 (GRCm39) |
W618R |
possibly damaging |
Het |
| Pomc |
A |
G |
12: 4,010,146 (GRCm39) |
H129R |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,399 (GRCm39) |
H325Q |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,722,474 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,978,342 (GRCm39) |
I74V |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,745,225 (GRCm39) |
E850A |
probably damaging |
Het |
| Scrn2 |
T |
A |
11: 96,921,262 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,923,675 (GRCm39) |
R673K |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,644,581 (GRCm39) |
*703R |
probably null |
Het |
| Spp1 |
A |
G |
5: 104,587,167 (GRCm39) |
M85V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,810 (GRCm39) |
E98G |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,582,851 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
A |
T |
17: 56,578,154 (GRCm39) |
S314T |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,341,823 (GRCm39) |
I209V |
possibly damaging |
Het |
| Vapa |
G |
A |
17: 65,889,586 (GRCm39) |
R194* |
probably null |
Het |
| Vcan |
C |
T |
13: 89,838,360 (GRCm39) |
D2395N |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,241,574 (GRCm39) |
H295R |
probably benign |
Het |
| Zdhhc14 |
A |
G |
17: 5,698,186 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,583 (GRCm39) |
F309Y |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,414,694 (GRCm39) |
C1187F |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,392 (GRCm39) |
Y302C |
probably damaging |
Het |
|
| Other mutations in Lyn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01752:Lyn
|
APN |
4 |
3,743,286 (GRCm39) |
missense |
probably benign |
|
|
IGL02744:Lyn
|
APN |
4 |
3,738,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02860:Lyn
|
APN |
4 |
3,745,594 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03328:Lyn
|
APN |
4 |
3,745,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03370:Lyn
|
APN |
4 |
3,780,931 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
bibb
|
UTSW |
4 |
3,783,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
butterhead
|
UTSW |
4 |
3,748,765 (GRCm39) |
missense |
probably benign |
0.11 |
|
Cress
|
UTSW |
4 |
3,789,908 (GRCm39) |
nonsense |
probably null |
|
|
Friede
|
UTSW |
4 |
3,789,834 (GRCm39) |
nonsense |
probably null |
|
|
Kohlrabi
|
UTSW |
4 |
3,783,089 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
lechuga
|
UTSW |
4 |
3,783,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lemon
|
UTSW |
4 |
3,746,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pacific
|
UTSW |
4 |
3,745,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
water
|
UTSW |
4 |
3,748,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0079:Lyn
|
UTSW |
4 |
3,746,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Lyn
|
UTSW |
4 |
3,748,768 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0582:Lyn
|
UTSW |
4 |
3,743,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0747:Lyn
|
UTSW |
4 |
3,745,638 (GRCm39) |
splice site |
probably benign |
|
|
R1460:Lyn
|
UTSW |
4 |
3,789,908 (GRCm39) |
nonsense |
probably null |
|
|
R1615:Lyn
|
UTSW |
4 |
3,748,765 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1654:Lyn
|
UTSW |
4 |
3,789,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1703:Lyn
|
UTSW |
4 |
3,738,867 (GRCm39) |
splice site |
probably null |
|
|
R2301:Lyn
|
UTSW |
4 |
3,780,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Lyn
|
UTSW |
4 |
3,748,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2512:Lyn
|
UTSW |
4 |
3,745,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3418:Lyn
|
UTSW |
4 |
3,746,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3419:Lyn
|
UTSW |
4 |
3,746,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3701:Lyn
|
UTSW |
4 |
3,742,455 (GRCm39) |
missense |
probably benign |
|
|
R3702:Lyn
|
UTSW |
4 |
3,742,455 (GRCm39) |
missense |
probably benign |
|
|
R3736:Lyn
|
UTSW |
4 |
3,745,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Lyn
|
UTSW |
4 |
3,789,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4351:Lyn
|
UTSW |
4 |
3,789,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4352:Lyn
|
UTSW |
4 |
3,789,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4649:Lyn
|
UTSW |
4 |
3,738,850 (GRCm39) |
missense |
probably benign |
|
|
R5738:Lyn
|
UTSW |
4 |
3,782,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Lyn
|
UTSW |
4 |
3,745,631 (GRCm39) |
splice site |
probably null |
|
|
R6375:Lyn
|
UTSW |
4 |
3,745,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Lyn
|
UTSW |
4 |
3,789,834 (GRCm39) |
nonsense |
probably null |
|
|
R7726:Lyn
|
UTSW |
4 |
3,756,428 (GRCm39) |
nonsense |
probably null |
|
|
R7940:Lyn
|
UTSW |
4 |
3,783,089 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8169:Lyn
|
UTSW |
4 |
3,783,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Lyn
|
UTSW |
4 |
3,743,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8782:Lyn
|
UTSW |
4 |
3,783,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Lyn
|
UTSW |
4 |
3,780,925 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9353:Lyn
|
UTSW |
4 |
3,746,804 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9567:Lyn
|
UTSW |
4 |
3,746,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCCAGAAGAAACTGCTTC -3'
(R):5'- AGACAGAGCTATTGTCTCTGGG -3'
Sequencing Primer
(F):5'- CTGCTTCTAAGGAGGGGAGGAC -3'
(R):5'- CTGGGGTGCTTGTTCTCCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation