Incidental Mutation 'R9731:Tec'
| ID |
731381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R9731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72939439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 192
(T192M)
|
| 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: T192M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: T192M
| 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: T192M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: T192M
| 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: T192M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: T192M
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
T |
G |
4: 109,362,918 (GRCm39) |
S134R |
probably damaging |
Het |
| A930033H14Rik |
T |
A |
10: 69,048,679 (GRCm39) |
R53W |
unknown |
Het |
| Abca9 |
G |
T |
11: 110,025,024 (GRCm39) |
D1006E |
probably benign |
Het |
| Abcc6 |
T |
A |
7: 45,669,660 (GRCm39) |
R132* |
probably null |
Het |
| Ankrd40 |
C |
T |
11: 94,229,250 (GRCm39) |
T283I |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,092 (GRCm39) |
K125E |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,346,404 (GRCm39) |
L527F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,245,262 (GRCm39) |
N1065D |
possibly damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ddx54 |
C |
T |
5: 120,758,807 (GRCm39) |
A350V |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,333 (GRCm39) |
V80I |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,970,138 (GRCm39) |
T127I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,168,589 (GRCm39) |
Q445K |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,141,166 (GRCm39) |
H1287R |
probably benign |
Het |
| Enpp7 |
G |
A |
11: 118,879,151 (GRCm39) |
G37R |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,061,233 (GRCm39) |
T554A |
probably benign |
Het |
| Fgf8 |
T |
C |
19: 45,730,846 (GRCm39) |
N60D |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,588,299 (GRCm39) |
M1V |
probably null |
Het |
| Glra3 |
G |
T |
8: 56,542,058 (GRCm39) |
R267L |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,598 (GRCm39) |
R1455H |
probably damaging |
Het |
| Grk6 |
C |
A |
13: 55,607,640 (GRCm39) |
P575T |
possibly damaging |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Hpse |
G |
A |
5: 100,842,022 (GRCm39) |
H288Y |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,794,826 (GRCm39) |
R506* |
probably null |
Het |
| Ing1 |
C |
A |
8: 11,611,649 (GRCm39) |
T123N |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,125,823 (GRCm39) |
D27G |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,577,956 (GRCm39) |
D773E |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,880,888 (GRCm39) |
D516G |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,835,452 (GRCm39) |
|
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Meak7 |
C |
A |
8: 120,498,010 (GRCm39) |
A165S |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,158 (GRCm39) |
*186W |
probably null |
Het |
| Ndufaf5 |
C |
T |
2: 140,012,807 (GRCm39) |
A59V |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,886,369 (GRCm39) |
L281S |
probably damaging |
Het |
| Or10a4 |
T |
G |
7: 106,696,786 (GRCm39) |
V38G |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,774,316 (GRCm39) |
I48F |
possibly damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,892 (GRCm39) |
I125F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,735,328 (GRCm39) |
T152K |
probably damaging |
Het |
| Oxgr1 |
C |
T |
14: 120,260,094 (GRCm39) |
V38I |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,043 (GRCm39) |
T142M |
possibly damaging |
Het |
| Pou6f1 |
C |
T |
15: 100,476,206 (GRCm39) |
R560Q |
possibly damaging |
Het |
| Ptgr3 |
T |
G |
18: 84,113,128 (GRCm39) |
V268G |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,242 (GRCm39) |
E166G |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,528,784 (GRCm39) |
Y308* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,594 (GRCm39) |
|
probably benign |
Het |
| Rras2 |
A |
C |
7: 113,659,593 (GRCm39) |
I57S |
probably damaging |
Het |
| Scn1b |
C |
T |
7: 30,824,596 (GRCm39) |
V31M |
probably damaging |
Het |
| Sema6d |
G |
A |
2: 124,506,117 (GRCm39) |
A642T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,835,543 (GRCm39) |
T940S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,904,126 (GRCm39) |
Q4* |
probably null |
Het |
| Slc44a2 |
T |
A |
9: 21,263,770 (GRCm39) |
I646N |
possibly damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,704 (GRCm39) |
Y332* |
probably null |
Het |
| Srpk1 |
A |
G |
17: 28,825,297 (GRCm39) |
I125T |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,786,068 (GRCm39) |
H451Y |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trim25 |
C |
A |
11: 88,906,391 (GRCm39) |
P405T |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,566,486 (GRCm39) |
D635G |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,461,683 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,376,885 (GRCm39) |
S1153T |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,361 (GRCm39) |
L632M |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,826,526 (GRCm39) |
T1389I |
probably benign |
Het |
| Wasf1 |
T |
A |
10: 40,806,731 (GRCm39) |
Y125N |
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 |
|
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 |
|
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'- TCACGATGCTGCAAATTCAG -3'
(R):5'- CTCTAGGGTGACTTGTGACTTC -3'
Sequencing Primer
(F):5'- CCAGCTGGACTAAGTCTGTTGTAAG -3'
(R):5'- ACTTCTGTAGTGCTTTACGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation