Incidental Mutation 'R0747:Lyn'
ID |
70175 |
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 |
038928-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0747 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 3745638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041377]
[ENSMUST00000103010]
|
AlphaFold |
P25911 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041377
|
SMART Domains |
Protein: ENSMUSP00000038838 Gene: ENSMUSG00000042228
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
|
SMART Domains |
Protein: ENSMUSP00000100075 Gene: ENSMUSG00000042228
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
A |
T |
11: 46,009,322 (GRCm39) |
|
probably null |
Het |
Anks4b |
C |
T |
7: 119,781,386 (GRCm39) |
A139V |
probably damaging |
Het |
Arf1 |
G |
A |
11: 59,103,461 (GRCm39) |
R149C |
probably benign |
Het |
Axl |
A |
T |
7: 25,463,484 (GRCm39) |
C598S |
possibly damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,316 (GRCm39) |
I291V |
possibly damaging |
Het |
Ccdc158 |
T |
A |
5: 92,781,156 (GRCm39) |
H883L |
probably benign |
Het |
Cep15 |
T |
A |
14: 12,287,287 (GRCm38) |
M16K |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,730,375 (GRCm39) |
S1644P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,797,564 (GRCm39) |
S1343P |
probably damaging |
Het |
D430041D05Rik |
G |
T |
2: 104,060,651 (GRCm39) |
H1414Q |
probably damaging |
Het |
Dnah5 |
C |
G |
15: 28,444,332 (GRCm39) |
I4043M |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,444,333 (GRCm39) |
C4044S |
possibly damaging |
Het |
Dpep3 |
C |
T |
8: 106,704,018 (GRCm39) |
A267T |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,578,845 (GRCm39) |
H106P |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,595,718 (GRCm39) |
E1466A |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,700,337 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,910,830 (GRCm39) |
T5A |
probably benign |
Het |
Gnb5 |
G |
A |
9: 75,218,752 (GRCm39) |
V26I |
probably benign |
Het |
Hephl1 |
A |
T |
9: 14,965,297 (GRCm39) |
|
probably benign |
Het |
Hmmr |
C |
T |
11: 40,612,572 (GRCm39) |
|
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,971 (GRCm39) |
F356Y |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,014,810 (GRCm39) |
|
probably benign |
Het |
Ism2 |
A |
G |
12: 87,332,172 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
T |
A |
11: 104,233,802 (GRCm39) |
M754L |
probably benign |
Het |
Kcnc4 |
A |
T |
3: 107,355,470 (GRCm39) |
I326N |
probably damaging |
Het |
Lcn6 |
G |
A |
2: 25,567,184 (GRCm39) |
V62M |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,760,353 (GRCm39) |
C2858S |
probably damaging |
Het |
Mov10 |
T |
A |
3: 104,709,812 (GRCm39) |
H358L |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,362,152 (GRCm39) |
V60A |
unknown |
Het |
Or2t6 |
C |
T |
14: 14,175,429 (GRCm38) |
A218T |
probably benign |
Het |
Pgap2 |
C |
A |
7: 101,886,343 (GRCm39) |
Y176* |
probably null |
Het |
Pglyrp1 |
A |
G |
7: 18,624,200 (GRCm39) |
Q161R |
possibly damaging |
Het |
Plod3 |
A |
G |
5: 137,017,049 (GRCm39) |
N66S |
probably benign |
Het |
Psmc3 |
A |
G |
2: 90,884,645 (GRCm39) |
E18G |
probably benign |
Het |
Psme3 |
T |
G |
11: 101,207,872 (GRCm39) |
M9R |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,053,417 (GRCm39) |
N428S |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,235 (GRCm39) |
I728V |
possibly damaging |
Het |
Sall4 |
A |
T |
2: 168,596,886 (GRCm39) |
H651Q |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,111,102 (GRCm39) |
Y76N |
probably damaging |
Het |
Slc13a4 |
T |
C |
6: 35,255,263 (GRCm39) |
T342A |
probably damaging |
Het |
Slc25a1 |
G |
T |
16: 17,744,084 (GRCm39) |
T239K |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,685 (GRCm39) |
I242F |
probably benign |
Het |
Tekt2 |
G |
A |
4: 126,217,553 (GRCm39) |
Q171* |
probably null |
Het |
Tet2 |
T |
G |
3: 133,173,231 (GRCm39) |
H1677P |
possibly damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trcg1 |
C |
T |
9: 57,149,204 (GRCm39) |
P259S |
probably benign |
Het |
Ttn |
A |
C |
2: 76,540,942 (GRCm39) |
S25688A |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,694,477 (GRCm39) |
R457* |
probably null |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
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 |
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 |
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'- AGAAGGCTTCATCCCCAGCAACTA -3'
(R):5'- CCCCTTCATTCCCAGAACCTACTGTA -3'
Sequencing Primer
(F):5'- GGTGTTTCTAAACGCTACATAGG -3'
(R):5'- GCTGTACCTCTGGCAGAATT -3'
|
Posted On |
2013-09-30 |