Incidental Mutation 'R1495:Tec'
ID |
168773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tec
|
Ensembl Gene |
ENSMUSG00000029217 |
Gene Name |
tec protein tyrosine kinase |
Synonyms |
|
MMRRC Submission |
039546-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R1495 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72944098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 103
(V103E)
|
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: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071836 Gene: ENSMUSG00000029217 AA Change: V103E
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: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073509 Gene: ENSMUSG00000029217 AA Change: V103E
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: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109224 Gene: ENSMUSG00000029217 AA Change: V103E
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: V103E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123606 Gene: ENSMUSG00000029217 AA Change: V103E
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000138842
|
SMART Domains |
Protein: ENSMUSP00000120155 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
Predicted Effect |
silent
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,614,356 (GRCm39) |
N488S |
probably benign |
Het |
Acot10 |
G |
A |
15: 20,665,593 (GRCm39) |
R383C |
probably damaging |
Het |
Acsm2 |
A |
G |
7: 119,177,349 (GRCm39) |
D263G |
probably damaging |
Het |
Adcy2 |
G |
T |
13: 68,944,654 (GRCm39) |
Q243K |
probably benign |
Het |
Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
Agt |
A |
G |
8: 125,286,194 (GRCm39) |
F296S |
probably damaging |
Het |
Akap14 |
T |
C |
X: 36,427,618 (GRCm39) |
D39G |
possibly damaging |
Het |
Akt3 |
T |
C |
1: 176,930,608 (GRCm39) |
M117V |
probably benign |
Het |
Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,207,251 (GRCm39) |
L70Q |
probably damaging |
Het |
Ccdc171 |
A |
T |
4: 83,599,332 (GRCm39) |
K724* |
probably null |
Het |
Ccdc91 |
A |
G |
6: 147,435,670 (GRCm39) |
T85A |
possibly damaging |
Het |
Ccdc9b |
T |
G |
2: 118,591,013 (GRCm39) |
K173N |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,265,629 (GRCm39) |
T224I |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,426,876 (GRCm39) |
I482V |
probably benign |
Het |
Cnot9 |
A |
G |
1: 74,562,759 (GRCm39) |
E176G |
probably damaging |
Het |
Cntnap4 |
T |
G |
8: 113,608,395 (GRCm39) |
L1272V |
possibly damaging |
Het |
Cyb5a |
T |
A |
18: 84,869,605 (GRCm39) |
M1K |
probably null |
Het |
Cyp2c23 |
A |
G |
19: 43,993,947 (GRCm39) |
I473T |
probably benign |
Het |
Dbil5 |
T |
A |
11: 76,109,276 (GRCm39) |
M60K |
probably benign |
Het |
Defa38 |
T |
A |
8: 21,585,217 (GRCm39) |
Q75L |
probably benign |
Het |
Dgkg |
A |
T |
16: 22,319,129 (GRCm39) |
L644Q |
probably damaging |
Het |
Disp3 |
T |
C |
4: 148,334,282 (GRCm39) |
I1004V |
probably benign |
Het |
Egf |
T |
A |
3: 129,506,655 (GRCm39) |
I599F |
probably damaging |
Het |
Epc2 |
A |
G |
2: 49,426,675 (GRCm39) |
T145A |
probably damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Extl3 |
A |
T |
14: 65,313,316 (GRCm39) |
V622E |
probably benign |
Het |
Fam227a |
C |
T |
15: 79,510,446 (GRCm39) |
V403I |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,153,499 (GRCm39) |
D3571V |
probably benign |
Het |
Fcho2 |
A |
G |
13: 98,886,358 (GRCm39) |
|
probably null |
Het |
Fras1 |
A |
G |
5: 96,676,445 (GRCm39) |
N64S |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,366,832 (GRCm39) |
N352S |
possibly damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,771 (GRCm39) |
N113S |
probably damaging |
Het |
Glg1 |
T |
C |
8: 111,924,307 (GRCm39) |
Y227C |
probably damaging |
Het |
Gm5141 |
A |
T |
13: 62,922,084 (GRCm39) |
C362S |
probably damaging |
Het |
Gprc6a |
T |
A |
10: 51,504,533 (GRCm39) |
T104S |
probably benign |
Het |
Jph1 |
A |
C |
1: 17,161,876 (GRCm39) |
V262G |
probably benign |
Het |
Kank1 |
C |
G |
19: 25,387,713 (GRCm39) |
T434R |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,704,325 (GRCm39) |
S1173G |
possibly damaging |
Het |
Krt75 |
G |
A |
15: 101,482,308 (GRCm39) |
|
probably benign |
Het |
Lyzl1 |
G |
T |
18: 4,181,192 (GRCm39) |
W77L |
probably null |
Het |
Nipbl |
T |
G |
15: 8,380,764 (GRCm39) |
N676T |
probably benign |
Het |
Obscn |
C |
T |
11: 58,970,986 (GRCm39) |
S2300N |
probably damaging |
Het |
Or9a2 |
T |
G |
6: 41,748,837 (GRCm39) |
Y132S |
probably damaging |
Het |
Osbpl1a |
T |
A |
18: 12,891,896 (GRCm39) |
M350L |
probably benign |
Het |
Pecam1 |
T |
C |
11: 106,579,682 (GRCm39) |
D460G |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,300 (GRCm39) |
K540N |
probably benign |
Het |
Prdm12 |
T |
A |
2: 31,530,205 (GRCm39) |
I32N |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,413,135 (GRCm39) |
S679G |
probably damaging |
Het |
Psen2 |
C |
T |
1: 180,056,419 (GRCm39) |
A393T |
probably damaging |
Het |
Ptprh |
T |
A |
7: 4,583,888 (GRCm39) |
T235S |
probably benign |
Het |
Ranbp3 |
C |
T |
17: 57,012,527 (GRCm39) |
P182L |
probably benign |
Het |
Serpinb7 |
A |
T |
1: 107,379,390 (GRCm39) |
K266* |
probably null |
Het |
Sesn3 |
T |
C |
9: 14,219,817 (GRCm39) |
S69P |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,184,535 (GRCm39) |
M818T |
probably damaging |
Het |
Slc25a53 |
C |
A |
X: 135,916,084 (GRCm39) |
C4F |
unknown |
Het |
Snx1 |
T |
A |
9: 66,003,879 (GRCm39) |
L255F |
probably benign |
Het |
Sptbn2 |
T |
G |
19: 4,769,004 (GRCm39) |
S46A |
possibly damaging |
Het |
Taf4 |
A |
G |
2: 179,574,820 (GRCm39) |
F595S |
probably damaging |
Het |
Tmco5b |
T |
C |
2: 113,121,136 (GRCm39) |
S147P |
possibly damaging |
Het |
Uchl5 |
C |
T |
1: 143,675,675 (GRCm39) |
T93I |
possibly damaging |
Het |
Usp14 |
A |
T |
18: 10,004,994 (GRCm39) |
S225T |
probably benign |
Het |
Usp45 |
C |
A |
4: 21,797,385 (GRCm39) |
Q238K |
possibly damaging |
Het |
Vmn1r6 |
T |
A |
6: 56,980,058 (GRCm39) |
M218K |
possibly damaging |
Het |
Zfp84 |
T |
A |
7: 29,476,728 (GRCm39) |
Y473* |
probably null |
Het |
Zyg11b |
G |
A |
4: 108,123,410 (GRCm39) |
P186S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACACCAAGTGTTTCACACAGG -3'
(R):5'- ACTGGGATTGTTTACAGCCATCCAAG -3'
Sequencing Primer
(F):5'- TCACTTACAAGGAGTGACTGTCC -3'
(R):5'- CCAAGAATAGTTTACTGATGCCTGC -3'
|
Posted On |
2014-04-13 |