Incidental Mutation 'R4608:Fastk'
| ID |
350871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastk
|
| Ensembl Gene |
ENSMUSG00000028959 |
| Gene Name |
Fas-activated serine/threonine kinase |
| Synonyms |
0610011K02Rik |
| MMRRC Submission |
041819-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4608 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24646036-24650280 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24648117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 233
(P233H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030799]
[ENSMUST00000030800]
[ENSMUST00000080067]
[ENSMUST00000115033]
[ENSMUST00000115036]
[ENSMUST00000115041]
[ENSMUST00000115043]
[ENSMUST00000144389]
[ENSMUST00000115047]
[ENSMUST00000115049]
[ENSMUST00000123167]
[ENSMUST00000127194]
|
| 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: P233H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: P233H
| 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 damaging
Transcript: ENSMUST00000115041
AA Change: P96H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959
AA Change: P96H
| 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: P233H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: P233H
| 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 |
noncoding transcript
Transcript: ENSMUST00000132498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144389
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000149085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151900
|
| Meta Mutation Damage Score |
0.4570 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
A |
G |
11: 109,308,855 (GRCm39) |
I74V |
unknown |
Het |
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adam10 |
T |
C |
9: 70,651,173 (GRCm39) |
L66P |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 114,464,245 (GRCm39) |
C738S |
probably damaging |
Het |
| Adamts7 |
T |
G |
9: 90,056,593 (GRCm39) |
S221A |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,816,648 (GRCm39) |
|
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,313,624 (GRCm39) |
V50A |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,531,183 (GRCm39) |
I193V |
probably benign |
Het |
| B130006D01Rik |
A |
T |
11: 95,617,066 (GRCm39) |
|
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,764 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcdc2a |
T |
A |
13: 25,245,223 (GRCm39) |
L100* |
probably null |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| F5 |
C |
T |
1: 164,036,598 (GRCm39) |
P1920S |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fancc |
C |
A |
13: 63,479,637 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
A |
C |
2: 125,148,420 (GRCm39) |
D2609E |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gckr |
A |
G |
5: 31,465,141 (GRCm39) |
D370G |
probably damaging |
Het |
| Ggt6 |
T |
C |
11: 72,328,769 (GRCm39) |
M385T |
probably benign |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,745,599 (GRCm39) |
S1353N |
probably benign |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ints6 |
T |
G |
14: 62,940,678 (GRCm39) |
R557S |
probably damaging |
Het |
| Ints9 |
T |
A |
14: 65,269,729 (GRCm39) |
I473N |
possibly damaging |
Het |
| Itih4 |
G |
A |
14: 30,623,626 (GRCm39) |
G915R |
probably damaging |
Het |
| Kif1a |
C |
A |
1: 92,952,368 (GRCm39) |
A1304S |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,075,924 (GRCm39) |
|
probably benign |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Krtap4-8 |
C |
T |
11: 99,671,321 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Lrch4 |
T |
A |
5: 137,637,408 (GRCm39) |
L526* |
probably null |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Nod1 |
C |
A |
6: 54,920,741 (GRCm39) |
A526S |
probably damaging |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,740,127 (GRCm39) |
D98G |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or2t1 |
A |
G |
14: 14,328,887 (GRCm38) |
M259V |
probably benign |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Osgep |
T |
C |
14: 51,155,378 (GRCm39) |
Y60C |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdha7 |
A |
T |
18: 37,108,870 (GRCm39) |
S632C |
possibly damaging |
Het |
| Pms1 |
T |
A |
1: 53,234,097 (GRCm39) |
R806S |
possibly damaging |
Het |
| Qars1 |
T |
A |
9: 108,386,625 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slc12a5 |
A |
T |
2: 164,815,685 (GRCm39) |
N67I |
probably damaging |
Het |
| Slc1a4 |
G |
T |
11: 20,254,348 (GRCm39) |
T506K |
probably damaging |
Het |
| Stimate |
C |
A |
14: 30,594,490 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,102,173 (GRCm39) |
I488N |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,668,105 (GRCm39) |
S158P |
probably benign |
Het |
| Ythdc1 |
T |
C |
5: 86,970,667 (GRCm39) |
S418P |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp367 |
C |
T |
13: 64,283,238 (GRCm39) |
D305N |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,822,584 (GRCm39) |
V160I |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCTTGCTCCAGGAGAAGC -3'
(R):5'- GCATCTGATCAGAAGCCTGG -3'
Sequencing Primer
(F):5'- TTGCTCCAGGAGAAGCCAAAC -3'
(R):5'- ATCAGAAGCCTGGCAGGTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation