Incidental Mutation 'R4702:Tec'
| ID |
356114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
041950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72941074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 161
(P161L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000149533]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071944
AA Change: P161L
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: P161L
| 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 |
possibly damaging
Transcript: ENSMUST00000073843
AA Change: P161L
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: P161L
| 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 |
possibly damaging
Transcript: ENSMUST00000113594
AA Change: P161L
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: P161L
| 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 |
silent
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: ENSMUST00000149533
|
| SMART Domains |
Protein: ENSMUSP00000123258
Gene: ENSMUSG00000029217
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000155342
|
| SMART Domains |
Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
| Domain | Start | End | E-Value | Type |
|---|
|
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,509 (GRCm39) |
T390A |
probably benign |
Het |
| Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
| Adra1a |
T |
C |
14: 66,875,008 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,958,935 (GRCm39) |
Y343H |
probably damaging |
Het |
| Antxr2 |
C |
T |
5: 98,097,028 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
G |
9: 21,209,591 (GRCm39) |
F362L |
probably benign |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,792 (GRCm39) |
N822S |
probably damaging |
Het |
| Atr |
A |
C |
9: 95,802,408 (GRCm39) |
T1767P |
possibly damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
| Bloc1s1 |
T |
A |
10: 128,759,267 (GRCm39) |
Q13L |
probably damaging |
Het |
| Blvra |
A |
C |
2: 126,933,982 (GRCm39) |
I125L |
probably benign |
Het |
| Caps2 |
T |
C |
10: 112,044,252 (GRCm39) |
F484L |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,767,968 (GRCm39) |
I188K |
possibly damaging |
Het |
| Cidea |
T |
A |
18: 67,500,498 (GRCm39) |
F187I |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,142,292 (GRCm39) |
N1025I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,926,676 (GRCm39) |
C565S |
probably benign |
Het |
| Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,021,230 (GRCm39) |
|
probably null |
Het |
| Dnajb13 |
T |
C |
7: 100,153,748 (GRCm39) |
N229S |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,656,798 (GRCm39) |
V423A |
possibly damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,935,138 (GRCm39) |
I222F |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,057,958 (GRCm39) |
N87Y |
unknown |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Epha7 |
T |
A |
4: 28,961,425 (GRCm39) |
L890Q |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,168,826 (GRCm39) |
S1730T |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,503,575 (GRCm39) |
F18L |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,883,543 (GRCm39) |
S396P |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,874 (GRCm39) |
I36T |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,894,947 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,802,546 (GRCm39) |
D10V |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,288 (GRCm39) |
S483P |
probably benign |
Het |
| Kcnv2 |
G |
C |
19: 27,300,967 (GRCm39) |
A273P |
probably damaging |
Het |
| Klc3 |
T |
G |
7: 19,129,756 (GRCm39) |
D371A |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,711,086 (GRCm39) |
L1567* |
probably null |
Het |
| Ldhal6b |
G |
T |
17: 5,468,582 (GRCm39) |
H117Q |
probably damaging |
Het |
| Lrriq1 |
G |
T |
10: 103,051,610 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Mrps31 |
T |
A |
8: 22,909,754 (GRCm39) |
L140Q |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,834 (GRCm39) |
T2119A |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,456 (GRCm39) |
D243G |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Papln |
C |
T |
12: 83,828,757 (GRCm39) |
T821I |
probably benign |
Het |
| Pitpnb |
T |
G |
5: 111,519,218 (GRCm39) |
V166G |
probably benign |
Het |
| Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,405,269 (GRCm39) |
S25R |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,653,038 (GRCm39) |
I175V |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,799,715 (GRCm39) |
Q687H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,741,404 (GRCm39) |
V584A |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,055,289 (GRCm39) |
L399S |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,727,235 (GRCm39) |
V370I |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,620,394 (GRCm39) |
D758E |
probably benign |
Het |
| Reck |
T |
C |
4: 43,898,060 (GRCm39) |
C113R |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,230,901 (GRCm39) |
T1316A |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,575,417 (GRCm39) |
F1009I |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,975 (GRCm39) |
N1035S |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,962 (GRCm39) |
S849T |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,462,857 (GRCm39) |
Y1060N |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,436 (GRCm39) |
L314P |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
| Slc7a14 |
T |
A |
3: 31,284,547 (GRCm39) |
Y263F |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,970,315 (GRCm39) |
S431P |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Spopl |
A |
T |
2: 23,405,309 (GRCm39) |
|
probably null |
Het |
| Stk10 |
A |
T |
11: 32,505,172 (GRCm39) |
T69S |
probably benign |
Het |
| Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
| Tnip1 |
A |
G |
11: 54,815,228 (GRCm39) |
S339P |
probably benign |
Het |
| Tsen34 |
T |
A |
7: 3,703,632 (GRCm39) |
V290D |
probably damaging |
Het |
| Tuba1a |
T |
A |
15: 98,849,563 (GRCm39) |
I5F |
possibly damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,516 (GRCm39) |
R39G |
possibly damaging |
Het |
| Xylt2 |
A |
G |
11: 94,560,355 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Zfp65 |
A |
G |
13: 67,872,341 (GRCm39) |
M1T |
probably null |
Het |
| Zmym4 |
T |
C |
4: 126,816,958 (GRCm39) |
I247V |
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 |
|
|
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 |
|
|
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'- CAAACACAACTTAAAGACGAGGT -3'
(R):5'- GTTGAGGCAATCCTGAGGTCC -3'
Sequencing Primer
(F):5'- TAAGCAGCAGTCATGTAAGGTCTCC -3'
(R):5'- AGGCAATCCTGAGGTCCTGATG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation