Incidental Mutation 'IGL02374:Fastk'
| ID |
291042 |
| 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 # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
24646036-24650280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24649247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 47
(A47S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000080067]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000144389]
[ENSMUST00000123167]
[ENSMUST00000127194]
[ENSMUST00000115047]
[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 benign
Transcript: ENSMUST00000030800
AA Change: A47S
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: A47S
| 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 |
possibly damaging
Transcript: ENSMUST00000115043
AA Change: A47S
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: A47S
| 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 |
unknown
Transcript: ENSMUST00000144389
AA Change: C63F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
| 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: 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: 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: ENSMUST00000151900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
G |
A |
5: 86,244,410 (GRCm39) |
G264R |
probably damaging |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
probably damaging |
Het |
|
| Other mutations in Fastk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02149:Fastk
|
APN |
5 |
24,649,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02313:Fastk
|
APN |
5 |
24,648,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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