Incidental Mutation 'R4350:Lyn'
| ID |
328463 |
| 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 |
041105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
3676865-3791612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3789796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 443
(R443H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041377]
[ENSMUST00000103010]
|
| AlphaFold |
P25911 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041377
AA Change: R464H
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038838
Gene: ENSMUSG00000042228
AA Change: R464H
| 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: R443H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000100075
Gene: ENSMUSG00000042228
AA Change: R443H
| 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 |
noncoding transcript
Transcript: ENSMUST00000137943
|
| Meta Mutation Damage Score |
0.4853 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
| Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
| Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
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 |
|
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'- ACCAACCTGTAAGTAGACTCAAGG -3'
(R):5'- AGTTAGCTCCTCCAAGGCTG -3'
Sequencing Primer
(F):5'- GAGCAGGGCTTCTAAACT -3'
(R):5'- GCTGCTTTTCCAACTACCTACAATAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation