Incidental Mutation 'R1615:Lyn'
| ID |
177036 |
| 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 |
039652-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3748765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 248
(K248E)
|
| 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 benign
Transcript: ENSMUST00000041377
AA Change: K248E
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: K248E
| 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 benign
Transcript: ENSMUST00000103010
AA Change: K227E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: K227E
| 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 |
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,743,625 (GRCm39) |
C328S |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,572,407 (GRCm39) |
T4918K |
probably benign |
Het |
| Aen |
T |
C |
7: 78,555,660 (GRCm39) |
Y108H |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,627,252 (GRCm39) |
M497T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,269,535 (GRCm39) |
T1216M |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,404 (GRCm39) |
|
probably null |
Het |
| Bzw2 |
A |
G |
12: 36,169,126 (GRCm39) |
|
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,573 (GRCm39) |
H319R |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,014,457 (GRCm39) |
I2010T |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,413 (GRCm39) |
Y2522C |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,913 (GRCm39) |
I3825K |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,238,452 (GRCm39) |
D3718V |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,972,794 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fhad1 |
G |
A |
4: 141,649,634 (GRCm39) |
T836M |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,074,463 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,576,098 (GRCm39) |
C637R |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,008,436 (GRCm39) |
K809E |
probably damaging |
Het |
| Grm1 |
G |
T |
10: 10,617,252 (GRCm39) |
Y510* |
probably null |
Het |
| Hey1 |
A |
T |
3: 8,729,898 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Insyn1 |
C |
T |
9: 58,406,351 (GRCm39) |
A87V |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,350,963 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,250,911 (GRCm39) |
D7G |
probably benign |
Het |
| Lrrc1 |
T |
C |
9: 77,342,400 (GRCm39) |
D358G |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,045,990 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,891,187 (GRCm39) |
L160H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,663 (GRCm39) |
H1422P |
probably damaging |
Het |
| Myo6 |
C |
T |
9: 80,215,007 (GRCm39) |
R1247C |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,695,739 (GRCm39) |
E347G |
possibly damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,593,672 (GRCm39) |
P213S |
probably benign |
Het |
| Neurl3 |
T |
C |
1: 36,308,470 (GRCm39) |
E114G |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,795,370 (GRCm39) |
I877F |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,990,651 (GRCm39) |
S1733P |
probably benign |
Het |
| Oxgr1 |
A |
T |
14: 120,260,185 (GRCm39) |
S7R |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,204,364 (GRCm39) |
|
probably benign |
Het |
| Prkag2 |
G |
T |
5: 25,080,176 (GRCm39) |
N120K |
possibly damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Saraf |
A |
G |
8: 34,632,442 (GRCm39) |
K174E |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,938,054 (GRCm39) |
Q264R |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,966,899 (GRCm39) |
M747K |
probably benign |
Het |
| Shf |
T |
C |
2: 122,179,913 (GRCm39) |
H421R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,368 (GRCm39) |
S228P |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,110 (GRCm39) |
|
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,585,359 (GRCm39) |
|
probably benign |
Het |
| Stfa1 |
T |
G |
16: 36,100,829 (GRCm39) |
V23G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,872,498 (GRCm39) |
D371G |
probably benign |
Het |
| Tada2a |
T |
C |
11: 83,993,926 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdpoz3 |
C |
A |
3: 93,733,618 (GRCm39) |
Q98K |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,091,145 (GRCm39) |
V660A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,945,978 (GRCm39) |
Y947H |
possibly damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,162 (GRCm39) |
C362* |
probably null |
Het |
| Vmn1r81 |
T |
A |
7: 11,994,441 (GRCm39) |
N56Y |
probably damaging |
Het |
| Vsig8 |
A |
G |
1: 172,387,280 (GRCm39) |
D52G |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,764,469 (GRCm39) |
R2140C |
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 |
|
|
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 |
|
R7029:Lyn
|
UTSW |
4 |
3,782,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TGGCAGCAAGCTTTCTTACCTAGTG -3'
(R):5'- TGAGTTCCACATCTGATGCAGCAC -3'
Sequencing Primer
(F):5'- ACCTAGTGAGGCATCTCTGC -3'
(R):5'- ATCTGATGCAGCACTGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation