Incidental Mutation 'IGL02149:Fastk'
| ID |
281913 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fastk
|
| Ensembl Gene |
ENSMUSG00000028959 |
| Gene Name |
Fas-activated serine/threonine kinase |
| Synonyms |
0610011K02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24646036-24650280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24649051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 112
(V112A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000080067]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000144389]
[ENSMUST00000127194]
[ENSMUST00000115047]
[ENSMUST00000123167]
[ENSMUST00000115049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030799
|
| SMART Domains |
Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
|
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030800
AA Change: V112A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
274 |
340 |
7.4e-18 |
PFAM |
|
Pfam:FAST_2
|
351 |
440 |
5e-20 |
PFAM |
|
RAP
|
475 |
532 |
3.04e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080067
|
| SMART Domains |
Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
313 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
348 |
616 |
4.7e-111 |
PFAM |
|
Pfam:HCO3_cotransp
|
671 |
1165 |
1.7e-217 |
PFAM |
|
transmembrane domain
|
1183 |
1200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115033
|
| SMART Domains |
Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
|
transmembrane domain
|
190 |
212 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115036
|
| SMART Domains |
Protein: ENSMUSP00000110688
Gene: ENSMUSG00000028958
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
UBQ
|
117 |
186 |
4.58e-4 |
SMART |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
transmembrane domain
|
207 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115041
|
| SMART Domains |
Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
136 |
204 |
5.4e-24 |
PFAM |
|
Pfam:FAST_2
|
212 |
303 |
4.7e-26 |
PFAM |
|
RAP
|
338 |
395 |
3.04e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115043
AA Change: V112A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
273 |
341 |
7.6e-24 |
PFAM |
|
Pfam:FAST_2
|
349 |
440 |
6.9e-26 |
PFAM |
|
Pfam:RAP
|
475 |
513 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000144389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127194
|
| SMART Domains |
Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
UBQ
|
102 |
171 |
4.58e-4 |
SMART |
|
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115047
|
| SMART Domains |
Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
299 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
334 |
602 |
7.2e-108 |
PFAM |
|
Pfam:HCO3_cotransp
|
656 |
1151 |
1e-244 |
PFAM |
|
transmembrane domain
|
1169 |
1186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123167
|
| SMART Domains |
Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
Blast:UBQ
|
102 |
122 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115049
|
| SMART Domains |
Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
304 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
339 |
607 |
7.3e-108 |
PFAM |
|
Pfam:HCO3_cotransp
|
661 |
1156 |
1e-244 |
PFAM |
|
transmembrane domain
|
1174 |
1191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149537
|
| 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 is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele lack neutophil infiltration in a model of house dust mite induced allergic pulmonary inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
| AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
| B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
| Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
| Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
| Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
| Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
| Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
| Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
| Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
| Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
| Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
| Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
| Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,769,442 (GRCm39) |
D519G |
probably benign |
Het |
| Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
| Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
probably benign |
Het |
|
| Other mutations in Fastk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Fastk
|
APN |
5 |
24,648,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Fastk
|
APN |
5 |
24,649,247 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0244:Fastk
|
UTSW |
5 |
24,647,176 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Fastk
|
UTSW |
5 |
24,648,921 (GRCm39) |
missense |
probably null |
0.61 |
|
R1181:Fastk
|
UTSW |
5 |
24,646,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1558:Fastk
|
UTSW |
5 |
24,649,045 (GRCm39) |
splice site |
probably null |
|
|
R1735:Fastk
|
UTSW |
5 |
24,646,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Fastk
|
UTSW |
5 |
24,646,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Fastk
|
UTSW |
5 |
24,650,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3934:Fastk
|
UTSW |
5 |
24,647,257 (GRCm39) |
nonsense |
probably null |
|
|
R4608:Fastk
|
UTSW |
5 |
24,648,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6671:Fastk
|
UTSW |
5 |
24,646,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8163:Fastk
|
UTSW |
5 |
24,649,273 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8947:Fastk
|
UTSW |
5 |
24,646,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9245:Fastk
|
UTSW |
5 |
24,649,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9575:Fastk
|
UTSW |
5 |
24,650,067 (GRCm39) |
missense |
probably benign |
|
|
X0022:Fastk
|
UTSW |
5 |
24,649,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation