Incidental Mutation 'IGL02505:Tec'
ID |
296264 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tec
|
Ensembl Gene |
ENSMUSG00000029217 |
Gene Name |
tec protein tyrosine kinase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL02505
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72946587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 47
(K47E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000149533]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071944
AA Change: K47E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071836 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
237 |
7.06e-17 |
SMART |
SH2
|
244 |
335 |
4.05e-28 |
SMART |
TyrKc
|
369 |
618 |
2.13e-132 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073843
AA Change: K47E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000073509 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
230 |
2.85e-3 |
SMART |
SH2
|
222 |
313 |
9.96e-28 |
SMART |
TyrKc
|
347 |
596 |
2.13e-132 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113594
AA Change: K47E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109224 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
237 |
7.06e-17 |
SMART |
SH2
|
244 |
335 |
4.05e-28 |
SMART |
TyrKc
|
369 |
618 |
2.13e-132 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126481
AA Change: K47E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123606 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138842
AA Change: K47E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120155 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149533
AA Change: K47E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123258 Gene: ENSMUSG00000029217 AA Change: K47E
Domain | Start | End | E-Value | Type |
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155342
|
SMART Domains |
Protein: ENSMUSP00000118980 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a minor reduction in platetet aggregation in response to threshold concentrations of collagen-related peptide or collagen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
C |
A |
9: 63,524,096 (GRCm39) |
L68M |
probably damaging |
Het |
Abca13 |
T |
G |
11: 9,531,498 (GRCm39) |
L4575W |
probably damaging |
Het |
Abcb11 |
A |
T |
2: 69,076,105 (GRCm39) |
V1201D |
probably damaging |
Het |
Aldoa |
G |
T |
7: 126,395,166 (GRCm39) |
A252E |
probably damaging |
Het |
Ap1b1 |
C |
T |
11: 4,981,700 (GRCm39) |
A536V |
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,115,957 (GRCm39) |
H233R |
possibly damaging |
Het |
Arhgef40 |
A |
T |
14: 52,238,320 (GRCm39) |
E1266D |
probably damaging |
Het |
Atp1a4 |
C |
T |
1: 172,062,642 (GRCm39) |
V622M |
probably damaging |
Het |
Aup1 |
A |
G |
6: 83,032,258 (GRCm39) |
T142A |
probably benign |
Het |
Bcl6 |
A |
T |
16: 23,796,319 (GRCm39) |
I36N |
probably damaging |
Het |
Best1 |
A |
G |
19: 9,966,514 (GRCm39) |
S358P |
probably damaging |
Het |
Cadps |
T |
G |
14: 12,449,759 (GRCm38) |
Q1150P |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,403 (GRCm39) |
E322D |
possibly damaging |
Het |
Cd300ld2 |
A |
T |
11: 114,904,513 (GRCm39) |
M118K |
probably benign |
Het |
Cdh9 |
T |
C |
15: 16,856,075 (GRCm39) |
L705P |
probably damaging |
Het |
Cep170b |
T |
G |
12: 112,709,504 (GRCm39) |
N436K |
probably damaging |
Het |
Chil6 |
T |
A |
3: 106,313,278 (GRCm39) |
I24F |
probably benign |
Het |
Chmp2a |
T |
A |
7: 12,767,782 (GRCm39) |
K48* |
probably null |
Het |
Col19a1 |
C |
T |
1: 24,339,665 (GRCm39) |
|
probably benign |
Het |
Cops7b |
C |
A |
1: 86,520,043 (GRCm39) |
Q65K |
probably benign |
Het |
Cyp2e1 |
T |
A |
7: 140,349,069 (GRCm39) |
L133H |
probably damaging |
Het |
Dkc1 |
T |
C |
X: 74,152,339 (GRCm39) |
|
probably benign |
Het |
Erlec1 |
A |
G |
11: 30,900,767 (GRCm39) |
Y134H |
probably damaging |
Het |
F8 |
C |
A |
X: 74,423,204 (GRCm39) |
|
probably benign |
Het |
Fus |
G |
A |
7: 127,580,679 (GRCm39) |
R252Q |
possibly damaging |
Het |
Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
Gm15821 |
T |
C |
17: 34,433,259 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
C |
A |
8: 32,228,344 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
A |
G |
17: 35,644,152 (GRCm39) |
I45V |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,847,496 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
C |
1: 173,583,220 (GRCm39) |
K333E |
probably benign |
Het |
Ildr1 |
G |
A |
16: 36,536,526 (GRCm39) |
G185D |
probably damaging |
Het |
Itgb2 |
G |
A |
10: 77,383,052 (GRCm39) |
D141N |
probably damaging |
Het |
Kdm1b |
G |
T |
13: 47,214,331 (GRCm39) |
D226Y |
probably damaging |
Het |
Krt77 |
A |
G |
15: 101,769,381 (GRCm39) |
L460P |
probably damaging |
Het |
Lamp3 |
A |
G |
16: 19,474,207 (GRCm39) |
I389T |
possibly damaging |
Het |
Macroh2a1 |
A |
G |
13: 56,222,143 (GRCm39) |
V336A |
probably damaging |
Het |
Mars1 |
C |
A |
10: 127,140,113 (GRCm39) |
E414* |
probably null |
Het |
Mpg |
T |
C |
11: 32,180,042 (GRCm39) |
V190A |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,937,626 (GRCm39) |
I742M |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,194,144 (GRCm39) |
|
probably benign |
Het |
Nmur1 |
T |
C |
1: 86,314,057 (GRCm39) |
D370G |
probably benign |
Het |
Npsr1 |
A |
G |
9: 24,009,578 (GRCm39) |
E28G |
probably benign |
Het |
Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
Or56a3 |
A |
T |
7: 104,735,540 (GRCm39) |
I206L |
probably benign |
Het |
Or7a42 |
G |
T |
10: 78,791,767 (GRCm39) |
V243F |
probably benign |
Het |
Or8b12c |
G |
A |
9: 37,715,627 (GRCm39) |
C140Y |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,128,899 (GRCm39) |
N589S |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,359,848 (GRCm39) |
L901P |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,139 (GRCm39) |
K685N |
probably damaging |
Het |
Prim1 |
T |
A |
10: 127,865,652 (GRCm39) |
*419R |
probably null |
Het |
Ptk2b |
G |
T |
14: 66,391,692 (GRCm39) |
N905K |
probably damaging |
Het |
Rbm34 |
T |
C |
8: 127,676,071 (GRCm39) |
I395V |
probably benign |
Het |
Rfx1 |
A |
G |
8: 84,822,438 (GRCm39) |
E912G |
possibly damaging |
Het |
Rngtt |
T |
C |
4: 33,337,936 (GRCm39) |
V253A |
possibly damaging |
Het |
Slc2a9 |
A |
G |
5: 38,594,002 (GRCm39) |
Y169H |
possibly damaging |
Het |
Slc49a4 |
G |
T |
16: 35,555,928 (GRCm39) |
D177E |
probably benign |
Het |
Susd4 |
C |
A |
1: 182,719,645 (GRCm39) |
T420K |
probably benign |
Het |
Tdrd3 |
G |
A |
14: 87,749,118 (GRCm39) |
G676D |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,942,743 (GRCm39) |
G1308* |
probably null |
Het |
Tmprss15 |
A |
T |
16: 78,784,629 (GRCm39) |
D675E |
probably benign |
Het |
Vmn1r84 |
A |
G |
7: 12,096,346 (GRCm39) |
C104R |
probably damaging |
Het |
Vmn2r49 |
T |
A |
7: 9,710,378 (GRCm39) |
M785L |
probably benign |
Het |
Vmn2r85 |
G |
T |
10: 130,261,449 (GRCm39) |
T296K |
probably damaging |
Het |
Wdr3 |
C |
T |
3: 100,059,290 (GRCm39) |
S343N |
probably benign |
Het |
Yju2 |
G |
T |
17: 56,269,051 (GRCm39) |
G53V |
probably damaging |
Het |
Zfp143 |
A |
T |
7: 109,690,993 (GRCm39) |
M515L |
possibly damaging |
Het |
Zfp735 |
A |
G |
11: 73,580,626 (GRCm39) |
I42V |
probably benign |
Het |
Zswim5 |
A |
T |
4: 116,819,749 (GRCm39) |
M385L |
probably benign |
Het |
|
Other mutations in Tec |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Tec
|
APN |
5 |
72,926,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00980:Tec
|
APN |
5 |
72,944,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01986:Tec
|
APN |
5 |
72,939,348 (GRCm39) |
nonsense |
probably null |
|
IGL02522:Tec
|
APN |
5 |
72,946,515 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02527:Tec
|
APN |
5 |
72,936,758 (GRCm39) |
splice site |
probably null |
|
IGL03292:Tec
|
APN |
5 |
72,914,707 (GRCm39) |
missense |
probably null |
0.98 |
development
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
technocrat
|
UTSW |
5 |
72,939,355 (GRCm39) |
missense |
probably null |
0.98 |
IGL02988:Tec
|
UTSW |
5 |
72,926,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4696001:Tec
|
UTSW |
5 |
72,931,178 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0254:Tec
|
UTSW |
5 |
72,941,081 (GRCm39) |
missense |
probably benign |
0.12 |
R0254:Tec
|
UTSW |
5 |
72,920,899 (GRCm39) |
splice site |
probably benign |
|
R0646:Tec
|
UTSW |
5 |
72,980,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R1122:Tec
|
UTSW |
5 |
72,936,792 (GRCm39) |
missense |
probably damaging |
0.96 |
R1495:Tec
|
UTSW |
5 |
72,944,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1617:Tec
|
UTSW |
5 |
72,939,448 (GRCm39) |
missense |
probably damaging |
0.97 |
R3905:Tec
|
UTSW |
5 |
72,917,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3954:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3955:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3981:Tec
|
UTSW |
5 |
72,980,942 (GRCm39) |
utr 5 prime |
probably benign |
|
R4061:Tec
|
UTSW |
5 |
72,980,752 (GRCm39) |
unclassified |
probably benign |
|
R4389:Tec
|
UTSW |
5 |
72,939,350 (GRCm39) |
missense |
probably benign |
|
R4507:Tec
|
UTSW |
5 |
72,917,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Tec
|
UTSW |
5 |
72,980,980 (GRCm39) |
start gained |
probably benign |
|
R4702:Tec
|
UTSW |
5 |
72,941,074 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4776:Tec
|
UTSW |
5 |
72,926,119 (GRCm39) |
missense |
probably benign |
0.38 |
R4911:Tec
|
UTSW |
5 |
72,913,694 (GRCm39) |
missense |
probably benign |
0.05 |
R4923:Tec
|
UTSW |
5 |
72,939,365 (GRCm39) |
nonsense |
probably null |
|
R4932:Tec
|
UTSW |
5 |
72,917,736 (GRCm39) |
nonsense |
probably null |
|
R5595:Tec
|
UTSW |
5 |
72,926,087 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7211:Tec
|
UTSW |
5 |
72,939,355 (GRCm39) |
missense |
probably null |
0.98 |
R7404:Tec
|
UTSW |
5 |
72,920,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Tec
|
UTSW |
5 |
72,931,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Tec
|
UTSW |
5 |
72,943,362 (GRCm39) |
missense |
probably benign |
|
R7548:Tec
|
UTSW |
5 |
72,917,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Tec
|
UTSW |
5 |
72,943,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7700:Tec
|
UTSW |
5 |
72,943,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8021:Tec
|
UTSW |
5 |
72,914,812 (GRCm39) |
missense |
probably benign |
0.03 |
R8217:Tec
|
UTSW |
5 |
72,921,602 (GRCm39) |
missense |
probably benign |
0.13 |
R8704:Tec
|
UTSW |
5 |
72,926,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Tec
|
UTSW |
5 |
72,926,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R9731:Tec
|
UTSW |
5 |
72,939,439 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Tec
|
UTSW |
5 |
72,939,358 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Tec
|
UTSW |
5 |
72,926,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |