Incidental Mutation 'R3419:Lyn'
| ID |
266950 |
| 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 |
040637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3419 (G1)
|
| Quality Score |
123 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3746833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 204
(I204F)
|
| 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: I204F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: I204F
| 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 |
possibly damaging
Transcript: ENSMUST00000103010
AA Change: I183F
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: I183F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
Het |
| Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
| Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
| Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
| St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
| Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
|
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'- ATCACAGTGTGGTATAATGTAGACC -3'
(R):5'- CAGCAATCTCACTGTGAATGTGG -3'
Sequencing Primer
(F):5'- ACCCTATGCATGGTGATG -3'
(R):5'- CTCTGTCCAACTGTAGGGAAATG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation