Incidental Mutation 'R9575:Fastk'
| ID |
722237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastk
|
| Ensembl Gene |
ENSMUSG00000028959 |
| Gene Name |
Fas-activated serine/threonine kinase |
| Synonyms |
0610011K02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9575 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24646036-24650280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24650067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000080067]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000115047]
[ENSMUST00000115049]
[ENSMUST00000123167]
[ENSMUST00000127194]
[ENSMUST00000144389]
|
| 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: S27P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: S27P
| 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
AA Change: S27P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959
AA Change: S27P
| 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 benign
Transcript: ENSMUST00000115043
AA Change: S27P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: S27P
| 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 |
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 |
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 |
possibly damaging
Transcript: ENSMUST00000144389
AA Change: S27P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,935,231 (GRCm39) |
R15G |
unknown |
Het |
| Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
| Igsf3 |
A |
G |
3: 101,338,625 (GRCm39) |
Y313C |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
| Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,303 (GRCm39) |
C301S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,041 (GRCm39) |
T600A |
unknown |
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 |
|
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 |
|
X0022:Fastk
|
UTSW |
5 |
24,649,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAGCCCTGAAGACCAC -3'
(R):5'- AGTGCTCAAGCTACCCCAG -3'
Sequencing Primer
(F):5'- CAGCTGCGTGACCTTGAACTAATG -3'
(R):5'- TGCGCATTTCCCGGAAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation