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: 0.078)
|
| Stock # |
R7526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72943362 bp (GRCm39)
|
| 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: 65,043,807 (GRCm39) |
F85I |
unknown |
Het |
| Ankrd22 |
A |
T |
19: 34,126,765 (GRCm39) |
W22R |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,938,590 (GRCm39) |
H1287Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,609 (GRCm39) |
E791G |
probably damaging |
Het |
| Bicd1 |
T |
G |
6: 149,415,224 (GRCm39) |
S646A |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,562,360 (GRCm39) |
Y276N |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,496,850 (GRCm39) |
H465R |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,899,184 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
G |
7: 16,016,325 (GRCm39) |
L139P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,800,771 (GRCm39) |
M355K |
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,342,985 (GRCm39) |
V116E |
probably benign |
Het |
| Defb48 |
A |
G |
14: 63,215,280 (GRCm39) |
V32A |
possibly damaging |
Het |
| Dmkn |
A |
G |
7: 30,477,076 (GRCm39) |
D460G |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,308,241 (GRCm39) |
V2170A |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,833 (GRCm39) |
F1912I |
possibly damaging |
Het |
| Dok3 |
C |
T |
13: 55,675,306 (GRCm39) |
V71I |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,795,837 (GRCm39) |
F178Y |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,550,308 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
G |
6: 97,090,913 (GRCm39) |
F409L |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,538,110 (GRCm39) |
L218H |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,796 (GRCm39) |
I2149M |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,476,464 (GRCm39) |
V1837I |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,126 (GRCm39) |
T501S |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,518,479 (GRCm39) |
E1365D |
probably damaging |
Het |
| Fzd5 |
G |
T |
1: 64,775,251 (GRCm39) |
P170Q |
probably benign |
Het |
| Gm14326 |
G |
A |
2: 177,588,298 (GRCm39) |
H233Y |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,257,766 (GRCm39) |
V735M |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,919 (GRCm39) |
I143L |
|
Het |
| Greb1 |
G |
A |
12: 16,766,766 (GRCm39) |
T344I |
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,399,918 (GRCm39) |
Y271N |
possibly damaging |
Het |
| Grin3b |
A |
G |
10: 79,808,885 (GRCm39) |
N212D |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,461,077 (GRCm39) |
L187P |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,532,324 (GRCm39) |
I3152T |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,728 (GRCm39) |
I96N |
unknown |
Het |
| Il18r1 |
T |
A |
1: 40,510,932 (GRCm39) |
L6I |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,953,798 (GRCm39) |
V80I |
probably damaging |
Het |
| Kif18b |
T |
C |
11: 102,805,493 (GRCm39) |
I255V |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,039,629 (GRCm39) |
N20K |
possibly damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,448,864 (GRCm39) |
W572R |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,281,496 (GRCm39) |
T71A |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,734,655 (GRCm39) |
T613K |
possibly damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,805,715 (GRCm39) |
S195P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,308,351 (GRCm39) |
N603S |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,389,607 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,163,697 (GRCm39) |
M1K |
probably null |
Het |
| Or8k37 |
A |
G |
2: 86,470,013 (GRCm39) |
I13T |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 117,031,341 (GRCm39) |
E457G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,571,076 (GRCm39) |
F154L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,659,875 (GRCm39) |
S704P |
probably damaging |
Het |
| Pkib |
A |
G |
10: 57,612,394 (GRCm39) |
T92A |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,888,678 (GRCm39) |
R376G |
possibly damaging |
Het |
| Pramel28 |
A |
T |
4: 143,692,387 (GRCm39) |
C205S |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,984,564 (GRCm39) |
E527D |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,474,337 (GRCm39) |
V469A |
probably damaging |
Het |
| Rnf148 |
G |
A |
6: 23,654,283 (GRCm39) |
Q238* |
probably null |
Het |
| Scn9a |
A |
C |
2: 66,313,990 (GRCm39) |
N1909K |
probably benign |
Het |
| Sema3c |
A |
T |
5: 17,932,594 (GRCm39) |
H699L |
possibly damaging |
Het |
| Sema3f |
A |
T |
9: 107,566,927 (GRCm39) |
C201S |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,152,583 (GRCm39) |
D206V |
probably benign |
Het |
| Serping1 |
A |
T |
2: 84,597,637 (GRCm39) |
S415T |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,932 (GRCm39) |
L50Q |
probably damaging |
Het |
| Slc25a22 |
T |
C |
7: 141,011,296 (GRCm39) |
E262G |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,738,353 (GRCm39) |
I205M |
probably damaging |
Het |
| Sod2 |
G |
T |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,740,847 (GRCm39) |
V1212E |
probably damaging |
Het |
| Tex44 |
G |
A |
1: 86,354,237 (GRCm39) |
V49I |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 127,861,205 (GRCm39) |
L972* |
probably null |
Het |
| Tpte |
G |
A |
8: 22,815,563 (GRCm39) |
|
probably null |
Het |
| Trim6 |
T |
A |
7: 103,882,039 (GRCm39) |
I456N |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Ubxn8 |
A |
T |
8: 34,123,635 (GRCm39) |
N101K |
probably benign |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
| Vmn2r83 |
A |
G |
10: 79,327,392 (GRCm39) |
T667A |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,384 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
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'- GTATCTGCCCTGTAGTGTCC -3'
(R):5'- AGAGAACCATCTAGCTGCTCTG -3'
Sequencing Primer
(F):5'- GCCCTGTAGTGTCCTCCAC -3'
(R):5'- GAACCATCTAGCTGCTCTGAATATTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation