Incidental Mutation 'R7548:Tec'
| ID |
584299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tec
|
| Ensembl Gene |
ENSMUSG00000029217 |
| Gene Name |
tec protein tyrosine kinase |
| Synonyms |
|
| MMRRC Submission |
045619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7548 (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 72917693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 509
(M509V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071944
AA Change: M509V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071836
Gene: ENSMUSG00000029217
AA Change: M509V
| 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: M487V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073509
Gene: ENSMUSG00000029217
AA Change: M487V
| 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: M509V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109224
Gene: ENSMUSG00000029217
AA Change: M509V
| 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: ENSMUST00000155342
|
| SMART Domains |
Protein: ENSMUSP00000118980
Gene: ENSMUSG00000029217
| Domain | Start | End | E-Value | Type |
|---|
|
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
G |
A |
5: 115,016,059 (GRCm39) |
S146N |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,458,596 (GRCm39) |
S426P |
possibly damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,725,733 (GRCm39) |
I59N |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,629,379 (GRCm39) |
*81K |
probably null |
Het |
| Atp8a1 |
T |
A |
5: 67,973,071 (GRCm39) |
R26* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,231,262 (GRCm39) |
Q453L |
probably benign |
Het |
| B4galt4 |
A |
G |
16: 38,574,428 (GRCm39) |
E134G |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,113,209 (GRCm39) |
T1082I |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,251 (GRCm39) |
F617L |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,188,723 (GRCm39) |
N800S |
probably benign |
Het |
| Cd300ld |
T |
C |
11: 114,878,248 (GRCm39) |
D88G |
probably benign |
Het |
| Ceacam2 |
A |
T |
7: 25,229,958 (GRCm39) |
V216E |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,738,675 (GRCm39) |
M356K |
|
Het |
| Cenpm |
T |
C |
15: 82,128,880 (GRCm39) |
M1V |
probably null |
Het |
| Ces2e |
A |
G |
8: 105,658,538 (GRCm39) |
E401G |
probably benign |
Het |
| Cib3 |
C |
A |
8: 72,961,041 (GRCm39) |
L65F |
probably damaging |
Het |
| Clip4 |
C |
G |
17: 72,096,963 (GRCm39) |
T29R |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,953,874 (GRCm39) |
I131T |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,673,415 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
C |
3: 113,917,409 (GRCm39) |
H732P |
unknown |
Het |
| Coq4 |
A |
T |
2: 29,685,420 (GRCm39) |
T145S |
possibly damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,098,989 (GRCm39) |
D527G |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,735 (GRCm39) |
I303V |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,459,399 (GRCm39) |
T437I |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,051,809 (GRCm39) |
S190P |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,004,423 (GRCm39) |
L3847F |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,877,838 (GRCm39) |
E411G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,944,517 (GRCm39) |
Y95H |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,408,590 (GRCm39) |
D310E |
possibly damaging |
Het |
| Eml4 |
C |
A |
17: 83,732,766 (GRCm39) |
Q140K |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,517,271 (GRCm39) |
S100P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,263 (GRCm39) |
T2972S |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 100,951,079 (GRCm39) |
E401G |
unknown |
Het |
| Fryl |
T |
A |
5: 73,349,105 (GRCm39) |
D19V |
unknown |
Het |
| Gck |
C |
T |
11: 5,852,040 (GRCm39) |
G16R |
|
Het |
| Gm3371 |
T |
C |
14: 44,648,145 (GRCm39) |
M1V |
probably null |
Het |
| Hlcs |
T |
A |
16: 93,933,876 (GRCm39) |
K661* |
probably null |
Het |
| Il17re |
C |
G |
6: 113,443,348 (GRCm39) |
P363A |
probably damaging |
Het |
| Kif24 |
C |
T |
4: 41,423,601 (GRCm39) |
E217K |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,272,907 (GRCm39) |
I605T |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,940,346 (GRCm39) |
T170A |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,287,669 (GRCm39) |
D126G |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,344 (GRCm39) |
F601Y |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,484,471 (GRCm39) |
I384T |
probably damaging |
Het |
| Mfap5 |
A |
T |
6: 122,502,993 (GRCm39) |
T102S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,702,446 (GRCm39) |
F600S |
possibly damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,149,604 (GRCm39) |
E404K |
probably damaging |
Het |
| Nme3 |
T |
C |
17: 25,115,522 (GRCm39) |
L12P |
probably damaging |
Het |
| Nxpe5 |
A |
T |
5: 138,249,493 (GRCm39) |
T428S |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,802 (GRCm39) |
T254I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,430 (GRCm39) |
T191A |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,641,259 (GRCm39) |
P175Q |
possibly damaging |
Het |
| Psmc6 |
T |
C |
14: 45,572,375 (GRCm39) |
Y110H |
probably benign |
Het |
| Pthlh |
T |
A |
6: 147,158,653 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ric8b |
G |
T |
10: 84,783,736 (GRCm39) |
S198I |
probably damaging |
Het |
| Rrp7a |
C |
A |
15: 83,001,871 (GRCm39) |
R212S |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,279,792 (GRCm39) |
Y392H |
probably benign |
Het |
| Sag |
G |
A |
1: 87,772,638 (GRCm39) |
V369I |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,680,094 (GRCm39) |
E140G |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,627,783 (GRCm39) |
M658K |
unknown |
Het |
| Skor2 |
C |
T |
18: 76,948,600 (GRCm39) |
S774F |
possibly damaging |
Het |
| Slc1a6 |
G |
T |
10: 78,650,265 (GRCm39) |
R501L |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,468 (GRCm39) |
M539V |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,823,602 (GRCm39) |
L133P |
|
Het |
| Sptlc1 |
A |
T |
13: 53,521,968 (GRCm39) |
N96K |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,501,946 (GRCm39) |
S205T |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,940,816 (GRCm39) |
L499Q |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,751,309 (GRCm39) |
C120R |
probably damaging |
Het |
| Usp39 |
C |
T |
6: 72,321,996 (GRCm39) |
S46N |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,724 (GRCm39) |
E220G |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,604,701 (GRCm39) |
C735* |
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 |
|
R7526:Tec
|
UTSW |
5 |
72,943,362 (GRCm39) |
missense |
probably benign |
|
|
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'- GCCCGAGGCCTGAGTTTT -3'
(R):5'- AGGTACCTTCAGTATGGCTGT -3'
Sequencing Primer
(F):5'- TTTTCTAGCCAGAGAGCCTCAGAG -3'
(R):5'- GGTACCTTCAGTATGGCTGTAAACAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation