Incidental Mutation 'R3953:Tec'
| ID |
308037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
040830-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R3953 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 72939520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000138842]
[ENSMUST00000149533]
[ENSMUST00000149533]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071944
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
| 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 null
Transcript: ENSMUST00000071944
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
| 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 null
Transcript: ENSMUST00000073843
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
| 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 null
Transcript: ENSMUST00000073843
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
| 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 null
Transcript: ENSMUST00000113594
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
| 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 null
Transcript: ENSMUST00000113594
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
| 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 benign
Transcript: ENSMUST00000126481
|
| SMART Domains |
Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
| 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: ENSMUST00000126481
|
| SMART Domains |
Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
| 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: 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Adgrf1 |
A |
G |
17: 43,621,098 (GRCm39) |
N445S |
probably benign |
Het |
| Aldh7a1 |
C |
A |
18: 56,681,577 (GRCm39) |
V198L |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,809 (GRCm39) |
D6E |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,423,826 (GRCm39) |
F747L |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,505,937 (GRCm38) |
D711G |
probably damaging |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp4f18 |
C |
T |
8: 72,754,801 (GRCm39) |
R148H |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,759,857 (GRCm39) |
P321T |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dipk1b |
C |
T |
2: 26,525,579 (GRCm39) |
P171L |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,344,929 (GRCm39) |
T2715M |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,537,931 (GRCm39) |
|
probably null |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,582,704 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
C |
T |
7: 45,089,470 (GRCm39) |
P274S |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Herc1 |
C |
T |
9: 66,341,075 (GRCm39) |
Q1731* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,766,750 (GRCm39) |
T455A |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,170,926 (GRCm39) |
H612Q |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,439,440 (GRCm39) |
H578Y |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,533,264 (GRCm39) |
S336P |
possibly damaging |
Het |
| Micu1 |
A |
T |
10: 59,586,326 (GRCm39) |
H134L |
probably benign |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,116 (GRCm39) |
G203D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,147,697 (GRCm39) |
I1179V |
probably damaging |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,806 (GRCm39) |
S252L |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,733,808 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,103,145 (GRCm39) |
|
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,399 (GRCm39) |
N1320S |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,277,884 (GRCm39) |
V426I |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,031,488 (GRCm39) |
T546A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,821,226 (GRCm39) |
D1331G |
probably damaging |
Het |
| Sgcz |
A |
G |
8: 37,993,346 (GRCm39) |
|
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,877,209 (GRCm39) |
D13G |
probably benign |
Het |
| Slco1a1 |
A |
T |
6: 141,868,833 (GRCm39) |
M377K |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,873,117 (GRCm39) |
L284Q |
probably damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tln2 |
G |
A |
9: 67,277,911 (GRCm39) |
P368S |
probably damaging |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
| Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,875,450 (GRCm39) |
S1686P |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,133,571 (GRCm39) |
E75G |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCACACGCCAATGAAGC -3'
(R):5'- GAGGCCAAACAAGCAATTGTC -3'
Sequencing Primer
(F):5'- ATGAAGCACTTACCCATACTTATCTC -3'
(R):5'- GCAATTGTCAAGCAAAACCCTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation