Incidental Mutation 'R7526:Tec'
| ID |
582982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
045598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72755716-72868483 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72786019 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 118
(I118V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000149533]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071944
AA Change: I118V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: I118V
| 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: ENSMUST00000073843
AA Change: I118V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: I118V
| 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 benign
Transcript: ENSMUST00000113594
AA Change: I118V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: I118V
| 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
AA Change: I118V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123606
Gene: ENSMUSG00000029217
AA Change: I118V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
AA Change: I1V
| Domain | Start | End | E-Value | Type |
|---|
|
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,152,981 (GRCm38) |
F85I |
unknown |
Het |
| Ankrd22 |
A |
T |
19: 34,149,365 (GRCm38) |
W22R |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 114,108,109 (GRCm38) |
H1287Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,213,741 (GRCm38) |
A396S |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,609 (GRCm38) |
E791G |
probably damaging |
Het |
| Bicd1 |
T |
G |
6: 149,513,726 (GRCm38) |
S646A |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,856,599 (GRCm38) |
Y276N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,496,851 (GRCm38) |
H465R |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,913,429 (GRCm38) |
|
probably null |
Het |
| Ccdc9 |
A |
G |
7: 16,282,400 (GRCm38) |
L139P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,909,945 (GRCm38) |
M355K |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,507,080 (GRCm38) |
V116E |
probably benign |
Het |
| Defb48 |
A |
G |
14: 62,977,831 (GRCm38) |
V32A |
possibly damaging |
Het |
| Dmkn |
A |
G |
7: 30,777,651 (GRCm38) |
D460G |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,400,957 (GRCm38) |
V2170A |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,287,876 (GRCm38) |
F1912I |
possibly damaging |
Het |
| Dok3 |
C |
T |
13: 55,527,493 (GRCm38) |
V71I |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,975,474 (GRCm38) |
F178Y |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,674,410 (GRCm38) |
|
probably null |
Het |
| Eogt |
A |
G |
6: 97,113,952 (GRCm38) |
F409L |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,630,689 (GRCm38) |
L218H |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,941,915 (GRCm38) |
I2149M |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,023,427 (GRCm38) |
V1837I |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,660,206 (GRCm38) |
T501S |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,688,134 (GRCm38) |
E1365D |
probably damaging |
Het |
| Fzd5 |
G |
T |
1: 64,736,092 (GRCm38) |
P170Q |
probably benign |
Het |
| Gm13101 |
A |
T |
4: 143,965,817 (GRCm38) |
C205S |
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,946,505 (GRCm38) |
H233Y |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 35,790,612 (GRCm38) |
V735M |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,089,825 (GRCm38) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,280,962 (GRCm38) |
I143L |
|
Het |
| Gm7534 |
T |
C |
4: 134,200,073 (GRCm38) |
|
probably null |
Het |
| Greb1 |
G |
A |
12: 16,716,765 (GRCm38) |
T344I |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,523,822 (GRCm38) |
Y271N |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,973,051 (GRCm38) |
N212D |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 25,971,049 (GRCm38) |
L187P |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,656,573 (GRCm38) |
I3152T |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,695,294 (GRCm38) |
I96N |
unknown |
Het |
| Il18r1 |
T |
A |
1: 40,471,772 (GRCm38) |
L6I |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,953,799 (GRCm38) |
V80I |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,914,667 (GRCm38) |
I255V |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,182,432 (GRCm38) |
N20K |
possibly damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,558,038 (GRCm38) |
W572R |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,374,180 (GRCm38) |
T71A |
probably benign |
Het |
| Myo7a |
G |
T |
7: 98,085,448 (GRCm38) |
T613K |
possibly damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,079,083 (GRCm38) |
S195P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 31,818,323 (GRCm38) |
N603S |
probably benign |
Het |
| Olfr1054 |
A |
T |
2: 86,333,353 (GRCm38) |
M1K |
probably null |
Het |
| Olfr1084 |
A |
G |
2: 86,639,669 (GRCm38) |
I13T |
possibly damaging |
Het |
| Olfr629 |
T |
C |
7: 103,740,400 (GRCm38) |
Y280C |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 116,894,805 (GRCm38) |
E457G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,521,062 (GRCm38) |
F154L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,752,568 (GRCm38) |
S704P |
probably damaging |
Het |
| Pkib |
A |
G |
10: 57,736,298 (GRCm38) |
T92A |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,998,666 (GRCm38) |
R376G |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 76,066,327 (GRCm38) |
E527D |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,747,026 (GRCm38) |
V469A |
probably damaging |
Het |
| Rnf148 |
G |
A |
6: 23,654,284 (GRCm38) |
Q238* |
probably null |
Het |
| Scn9a |
A |
C |
2: 66,483,646 (GRCm38) |
N1909K |
probably benign |
Het |
| Sema3c |
A |
T |
5: 17,727,596 (GRCm38) |
H699L |
possibly damaging |
Het |
| Sema3f |
A |
T |
9: 107,689,728 (GRCm38) |
C201S |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,258,790 (GRCm38) |
D206V |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,767,293 (GRCm38) |
S415T |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,548,872 (GRCm38) |
L50Q |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,431,383 (GRCm38) |
E262G |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,902,491 (GRCm38) |
I205M |
probably damaging |
Het |
| Sod2 |
G |
T |
17: 13,008,031 (GRCm38) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,287,812 (GRCm38) |
V1212E |
probably damaging |
Het |
| Tex44 |
G |
A |
1: 86,426,515 (GRCm38) |
V49I |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,784,141 (GRCm38) |
L972* |
probably null |
Het |
| Tpte |
G |
A |
8: 22,325,547 (GRCm38) |
|
probably null |
Het |
| Trim6 |
T |
A |
7: 104,232,832 (GRCm38) |
I456N |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,422,417 (GRCm38) |
V520L |
probably benign |
Het |
| Ubxn8 |
A |
T |
8: 33,633,607 (GRCm38) |
N101K |
probably benign |
Het |
| Vmn2r60 |
AG |
A |
7: 42,195,734 (GRCm38) |
|
probably null |
Het |
| Vmn2r83 |
A |
G |
10: 79,491,558 (GRCm38) |
T667A |
probably damaging |
Het |
|
| Other mutations in Tec |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Tec
|
APN |
5 |
72,768,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00980:Tec
|
APN |
5 |
72,786,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01986:Tec
|
APN |
5 |
72,782,005 (GRCm38) |
nonsense |
probably null |
|
|
IGL02505:Tec
|
APN |
5 |
72,789,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02522:Tec
|
APN |
5 |
72,789,172 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02527:Tec
|
APN |
5 |
72,779,415 (GRCm38) |
splice site |
probably null |
|
|
IGL03292:Tec
|
APN |
5 |
72,757,364 (GRCm38) |
missense |
probably null |
0.98 |
|
development
|
UTSW |
5 |
72,782,177 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
technocrat
|
UTSW |
5 |
72,782,012 (GRCm38) |
missense |
probably null |
0.98 |
|
IGL02988:Tec
|
UTSW |
5 |
72,768,747 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
PIT4696001:Tec
|
UTSW |
5 |
72,773,835 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0254:Tec
|
UTSW |
5 |
72,783,738 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0254:Tec
|
UTSW |
5 |
72,763,556 (GRCm38) |
splice site |
probably benign |
|
|
R0646:Tec
|
UTSW |
5 |
72,823,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1122:Tec
|
UTSW |
5 |
72,779,449 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1495:Tec
|
UTSW |
5 |
72,786,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1617:Tec
|
UTSW |
5 |
72,782,105 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3905:Tec
|
UTSW |
5 |
72,760,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3953:Tec
|
UTSW |
5 |
72,782,177 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3954:Tec
|
UTSW |
5 |
72,782,177 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3955:Tec
|
UTSW |
5 |
72,782,177 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R3981:Tec
|
UTSW |
5 |
72,823,599 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4061:Tec
|
UTSW |
5 |
72,823,409 (GRCm38) |
unclassified |
probably benign |
|
|
R4389:Tec
|
UTSW |
5 |
72,782,007 (GRCm38) |
missense |
probably benign |
|
|
R4507:Tec
|
UTSW |
5 |
72,760,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4689:Tec
|
UTSW |
5 |
72,823,637 (GRCm38) |
start gained |
probably benign |
|
|
R4702:Tec
|
UTSW |
5 |
72,783,731 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4776:Tec
|
UTSW |
5 |
72,768,776 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4911:Tec
|
UTSW |
5 |
72,756,351 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4923:Tec
|
UTSW |
5 |
72,782,022 (GRCm38) |
nonsense |
probably null |
|
|
R4932:Tec
|
UTSW |
5 |
72,760,393 (GRCm38) |
nonsense |
probably null |
|
|
R5595:Tec
|
UTSW |
5 |
72,768,744 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7211:Tec
|
UTSW |
5 |
72,782,012 (GRCm38) |
missense |
probably null |
0.98 |
|
R7404:Tec
|
UTSW |
5 |
72,763,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7465:Tec
|
UTSW |
5 |
72,773,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7548:Tec
|
UTSW |
5 |
72,760,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7699:Tec
|
UTSW |
5 |
72,786,024 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7700:Tec
|
UTSW |
5 |
72,786,024 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8021:Tec
|
UTSW |
5 |
72,757,469 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8217:Tec
|
UTSW |
5 |
72,764,259 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8704:Tec
|
UTSW |
5 |
72,768,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9287:Tec
|
UTSW |
5 |
72,768,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9731:Tec
|
UTSW |
5 |
72,782,096 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Tec
|
UTSW |
5 |
72,782,015 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Z1177:Tec
|
UTSW |
5 |
72,768,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATCTGCCCTGTAGTGTCC -3'
(R):5'- AGAGAACCATCTAGCTGCTCTG -3'
Sequencing Primer
(F):5'- GCCCTGTAGTGTCCTCCAC -3'
(R):5'- GAACCATCTAGCTGCTCTGAATATTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation