Incidental Mutation 'IGL00230:Tec'
| ID |
2408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72926111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 314
(A314T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109224
(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: A314T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: A314T
| 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: A292T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: A292T
| 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: A314T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: A314T
| 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: 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: ENSMUST00000155342
|
| SMART Domains |
Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
| Domain | Start | End | E-Value | Type |
|---|
|
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bin1 |
C |
T |
18: 32,553,160 (GRCm39) |
A215V |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,156,704 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
C |
T |
4: 96,424,283 (GRCm39) |
R158H |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,540 (GRCm39) |
D507G |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,620,149 (GRCm39) |
E245G |
possibly damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,949,070 (GRCm39) |
|
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,888,985 (GRCm39) |
Q195L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,291,950 (GRCm39) |
T229A |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,521,007 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
G |
T |
7: 115,682,789 (GRCm39) |
T264K |
probably damaging |
Het |
| Gsk3b |
A |
T |
16: 38,049,069 (GRCm39) |
I389F |
probably benign |
Het |
| H2bc14 |
G |
T |
13: 21,906,545 (GRCm39) |
R93L |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,956,752 (GRCm39) |
T194A |
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,323,457 (GRCm39) |
Y273C |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,548,693 (GRCm39) |
V1066D |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 92,982,656 (GRCm39) |
A707E |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,133,875 (GRCm39) |
M674T |
probably benign |
Het |
| Mas1 |
T |
C |
17: 13,060,877 (GRCm39) |
D182G |
probably benign |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,808,161 (GRCm39) |
E289G |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,551,958 (GRCm39) |
G264V |
possibly damaging |
Het |
| Ruvbl1 |
T |
C |
6: 88,461,385 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,413 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,245,630 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,762,968 (GRCm39) |
Y404* |
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,392,930 (GRCm39) |
I788V |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,266,759 (GRCm39) |
M112K |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,195,177 (GRCm39) |
M153V |
probably benign |
Het |
| Slc9c1 |
T |
G |
16: 45,393,752 (GRCm39) |
V565G |
possibly damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,699,139 (GRCm39) |
I803V |
probably benign |
Het |
| Trav9-1 |
A |
T |
14: 53,725,850 (GRCm39) |
I55F |
probably benign |
Het |
| Ttll12 |
C |
A |
15: 83,462,857 (GRCm39) |
E536D |
probably benign |
Het |
| Ubqln1 |
C |
A |
13: 58,325,806 (GRCm39) |
E152* |
probably null |
Het |
| Wwtr1 |
G |
A |
3: 57,370,912 (GRCm39) |
T338I |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,928,099 (GRCm39) |
F206S |
probably benign |
Het |
|
| Other mutations in Tec |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-12-09 |
Incidental Mutation