Incidental Mutation 'R3763:Ltk'
| ID |
270580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltk
|
| Ensembl Gene |
ENSMUSG00000027297 |
| Gene Name |
leukocyte tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119581807-119590912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119582318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 499
(L499P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028758]
[ENSMUST00000028759]
[ENSMUST00000082130]
[ENSMUST00000140224]
[ENSMUST00000182203]
|
| AlphaFold |
P08923 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028758
|
| SMART Domains |
Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
149 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
243 |
454 |
1.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028759
AA Change: L811P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: L811P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gly_rich
|
111 |
381 |
2.4e-21 |
PFAM |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
TyrKc
|
506 |
773 |
2.61e-127 |
SMART |
|
low complexity region
|
824 |
841 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082130
AA Change: L750P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: L750P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Gly_rich
|
109 |
294 |
6.1e-16 |
PFAM |
|
transmembrane domain
|
362 |
384 |
N/A |
INTRINSIC |
|
TyrKc
|
445 |
712 |
2.61e-127 |
SMART |
|
low complexity region
|
763 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140224
AA Change: L399P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297
AA Change: L399P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
TyrKc
|
194 |
461 |
1.2e-129 |
SMART |
|
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182203
AA Change: L499P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297
AA Change: L499P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
transmembrane domain
|
111 |
133 |
N/A |
INTRINSIC |
|
TyrKc
|
194 |
461 |
2.61e-127 |
SMART |
|
low complexity region
|
512 |
529 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1035 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Four alternatively spliced transcript variants encoding different isoforms have been described for this gene. These transcripts are expressed in a tissue-specific manner in lymphocytes, brain and neuroblastoma cells, and the encoded isoforms exhibit different subcellular localization. The lymphocyte and brain specific variants initiate translation at non-AUG (CUG) start codons. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ltk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Ltk
|
APN |
2 |
119,586,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL01287:Ltk
|
APN |
2 |
119,586,186 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01339:Ltk
|
APN |
2 |
119,583,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Ltk
|
APN |
2 |
119,583,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01827:Ltk
|
APN |
2 |
119,583,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Ltk
|
APN |
2 |
119,589,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
Envy
|
UTSW |
2 |
119,583,516 (GRCm39) |
splice site |
probably null |
|
|
R2105:Ltk
|
UTSW |
2 |
119,582,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Ltk
|
UTSW |
2 |
119,588,429 (GRCm39) |
intron |
probably benign |
|
|
R4120:Ltk
|
UTSW |
2 |
119,588,429 (GRCm39) |
intron |
probably benign |
|
|
R4257:Ltk
|
UTSW |
2 |
119,583,485 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4460:Ltk
|
UTSW |
2 |
119,586,094 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4888:Ltk
|
UTSW |
2 |
119,583,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Ltk
|
UTSW |
2 |
119,583,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Ltk
|
UTSW |
2 |
119,590,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5784:Ltk
|
UTSW |
2 |
119,584,840 (GRCm39) |
nonsense |
probably null |
|
|
R6301:Ltk
|
UTSW |
2 |
119,582,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Ltk
|
UTSW |
2 |
119,583,516 (GRCm39) |
splice site |
probably null |
|
|
R6860:Ltk
|
UTSW |
2 |
119,585,075 (GRCm39) |
nonsense |
probably null |
|
|
R7083:Ltk
|
UTSW |
2 |
119,582,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8537:Ltk
|
UTSW |
2 |
119,588,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8861:Ltk
|
UTSW |
2 |
119,590,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9266:Ltk
|
UTSW |
2 |
119,585,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9299:Ltk
|
UTSW |
2 |
119,584,721 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9319:Ltk
|
UTSW |
2 |
119,590,096 (GRCm39) |
missense |
probably benign |
|
|
R9662:Ltk
|
UTSW |
2 |
119,582,330 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGGAATGGAACTTGAGG -3'
(R):5'- TAACTACCCTGGTTCTGCAGGG -3'
Sequencing Primer
(F):5'- AGCCATTGCAGTGTTCAATGC -3'
(R):5'- GCAGGAAGAGAGCCATAAAATAGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation