Incidental Mutation 'R8341:Lyn'
| ID |
644881 |
| 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 |
067865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 3743304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041377]
[ENSMUST00000041377]
[ENSMUST00000103010]
[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 null
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 null
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,845,876 (GRCm39) |
I915F |
probably damaging |
Het |
| Adam11 |
C |
A |
11: 102,667,362 (GRCm39) |
H641N |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,725,806 (GRCm39) |
S192P |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,682,247 (GRCm39) |
N676I |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,224,553 (GRCm39) |
V1428I |
probably benign |
Het |
| B3gnt9 |
C |
T |
8: 105,980,497 (GRCm39) |
R297H |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,115 (GRCm39) |
A625T |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,747,008 (GRCm39) |
L251P |
probably damaging |
Het |
| Ceacam15 |
C |
A |
7: 16,405,928 (GRCm39) |
V208F |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,554,117 (GRCm39) |
K351E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Cubn |
C |
A |
2: 13,433,535 (GRCm39) |
G1125V |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,178,234 (GRCm39) |
V633I |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,755 (GRCm39) |
D357V |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,787,605 (GRCm39) |
M370T |
possibly damaging |
Het |
| Frk |
G |
A |
10: 34,462,279 (GRCm39) |
E257K |
probably damaging |
Het |
| Gm7579 |
T |
A |
7: 141,765,856 (GRCm39) |
C87* |
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,865,908 (GRCm39) |
V211A |
probably damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Ints9 |
T |
A |
14: 65,273,863 (GRCm39) |
V556E |
probably benign |
Het |
| Itprid2 |
A |
T |
2: 79,488,062 (GRCm39) |
K715I |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,868 (GRCm39) |
S110P |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,599,663 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,704,451 (GRCm39) |
S1215C |
probably damaging |
Het |
| Map2k5 |
T |
A |
9: 63,246,380 (GRCm39) |
N116Y |
probably damaging |
Het |
| Map3k13 |
G |
T |
16: 21,740,334 (GRCm39) |
E554* |
probably null |
Het |
| Map6 |
A |
G |
7: 98,917,647 (GRCm39) |
E140G |
possibly damaging |
Het |
| Mpv17 |
A |
C |
5: 31,311,447 (GRCm39) |
|
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,253 (GRCm39) |
P883S |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,979 (GRCm39) |
M914V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,918 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
G |
A |
17: 38,116,543 (GRCm39) |
C169Y |
probably damaging |
Het |
| Osbpl7 |
T |
G |
11: 96,950,989 (GRCm39) |
L612R |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,892,133 (GRCm39) |
M2012L |
possibly damaging |
Het |
| Ppp1r7 |
G |
A |
1: 93,274,000 (GRCm39) |
D59N |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,798,322 (GRCm39) |
K718M |
probably damaging |
Het |
| Ptbp1 |
A |
C |
10: 79,699,045 (GRCm39) |
E534D |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,820 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rbx1 |
T |
C |
15: 81,358,078 (GRCm39) |
L88P |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,411,838 (GRCm39) |
L462P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,511,290 (GRCm39) |
L77* |
probably null |
Het |
| Shisa9 |
T |
C |
16: 11,815,015 (GRCm39) |
M221T |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,012,281 (GRCm39) |
F135V |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,253,495 (GRCm39) |
F88L |
probably benign |
Het |
| Snx21 |
A |
G |
2: 164,633,805 (GRCm39) |
E197G |
probably damaging |
Het |
| Srarp |
T |
C |
4: 141,160,707 (GRCm39) |
D42G |
possibly damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,714 (GRCm39) |
M200L |
probably benign |
Het |
| Stambpl1 |
A |
T |
19: 34,211,401 (GRCm39) |
Q154L |
probably benign |
Het |
| Szt2 |
G |
T |
4: 118,250,033 (GRCm39) |
R492S |
possibly damaging |
Het |
| Thbs3 |
G |
A |
3: 89,132,698 (GRCm39) |
R880Q |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,340,199 (GRCm39) |
L473H |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,522,893 (GRCm39) |
S342P |
probably benign |
Het |
| Uckl1 |
T |
A |
2: 181,211,512 (GRCm39) |
M463L |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,192 (GRCm39) |
S2397P |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,128 (GRCm39) |
H728L |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,113,378 (GRCm39) |
V110A |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,354,564 (GRCm39) |
L61* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,843,989 (GRCm39) |
Y1009C |
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 |
|
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 |
|
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'- CATTTACAGGTGGGAAGCACAG -3'
(R):5'- ACGTCTTAAGTAGCATTTTGGC -3'
Sequencing Primer
(F):5'- GAGCTTCACTCCATGGCC -3'
(R):5'- TTTTGGCAAAGAAAGAAACAGTGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation