Incidental Mutation 'IGL00980:Tec'
| ID |
27537 |
| 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 # |
IGL00980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72944141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 89
(L89F)
|
| 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: L89F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: L89F
| 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: L89F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: L89F
| 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: L89F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: L89F
| 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: L89F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: L89F
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
5 |
113 |
2.13e-17 |
SMART |
|
BTK
|
113 |
149 |
1.79e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138842
|
| SMART Domains |
Protein: ENSMUSP00000120155
Gene: ENSMUSG00000029217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149533
|
| SMART Domains |
Protein: ENSMUSP00000123258
Gene: ENSMUSG00000029217
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
| Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
| Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
| Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
| Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
| Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
| Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
| Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
| Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
| Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
| Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
| Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
| Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
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 |
|
IGL01986:Tec
|
APN |
5 |
72,939,348 (GRCm39) |
nonsense |
probably null |
|
|
IGL02505:Tec
|
APN |
5 |
72,946,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation