Incidental Mutation 'R1558:Fastk'
| ID |
170409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastk
|
| Ensembl Gene |
ENSMUSG00000028959 |
| Gene Name |
Fas-activated serine/threonine kinase |
| Synonyms |
0610011K02Rik |
| MMRRC Submission |
039597-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1558 (G1)
|
| Quality Score |
170 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24646036-24650280 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3100 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 24649045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110701
(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: L114H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: L114H
| 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 null
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: L114H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: L114H
| 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: ENSMUST00000132109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131946
|
| 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 null
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 null
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: ENSMUST00000149537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149085
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151900
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
A |
4: 53,092,887 (GRCm39) |
Q299L |
probably null |
Het |
| Adamts9 |
T |
G |
6: 92,885,692 (GRCm39) |
K399N |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,056,711 (GRCm39) |
F369S |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,483,301 (GRCm39) |
Y236H |
probably benign |
Het |
| Ankrd36 |
T |
C |
11: 5,585,329 (GRCm39) |
L380P |
probably damaging |
Het |
| Atp2a1 |
C |
T |
7: 126,051,844 (GRCm39) |
A468T |
possibly damaging |
Het |
| Caprin1 |
A |
T |
2: 103,606,332 (GRCm39) |
F303I |
possibly damaging |
Het |
| Casp7 |
A |
T |
19: 56,421,684 (GRCm39) |
R41* |
probably null |
Het |
| Ccdc66 |
T |
A |
14: 27,208,463 (GRCm39) |
H753L |
probably benign |
Het |
| Ccnc |
T |
C |
4: 21,742,671 (GRCm39) |
M166T |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,923,337 (GRCm39) |
M538K |
possibly damaging |
Het |
| Cemip2 |
T |
A |
19: 21,775,346 (GRCm39) |
Y196* |
probably null |
Het |
| Cercam |
G |
A |
2: 29,766,251 (GRCm39) |
A345T |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,537,954 (GRCm39) |
C60* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,289,542 (GRCm39) |
G125S |
probably damaging |
Het |
| Defb7 |
A |
G |
8: 19,547,567 (GRCm39) |
D24G |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,077,452 (GRCm39) |
Y653N |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,183,208 (GRCm39) |
D70G |
probably damaging |
Het |
| Erich3 |
T |
G |
3: 154,419,705 (GRCm39) |
N266K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,135 (GRCm39) |
N676S |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,739 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,523,463 (GRCm39) |
T1149A |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,068 (GRCm39) |
V483A |
probably damaging |
Het |
| Fpgs |
T |
C |
2: 32,575,852 (GRCm39) |
T364A |
possibly damaging |
Het |
| Gm12185 |
A |
G |
11: 48,806,262 (GRCm39) |
S310P |
probably damaging |
Het |
| Gm15056 |
A |
T |
8: 21,391,949 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,112,112 (GRCm39) |
V692A |
unknown |
Het |
| Izumo3 |
A |
C |
4: 92,035,140 (GRCm39) |
C26G |
probably damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,474 (GRCm39) |
Y249C |
probably damaging |
Het |
| Kcnj6 |
T |
C |
16: 94,563,358 (GRCm39) |
E380G |
possibly damaging |
Het |
| Kdm3b |
A |
G |
18: 34,942,149 (GRCm39) |
T747A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,258,622 (GRCm39) |
G1370R |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 81,991,334 (GRCm39) |
R504Q |
probably damaging |
Het |
| Mgat4f |
G |
A |
1: 134,318,512 (GRCm39) |
G428D |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,379,127 (GRCm39) |
I195T |
probably damaging |
Het |
| Ncor2 |
G |
A |
5: 125,110,610 (GRCm39) |
T1350I |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,705 (GRCm39) |
E43G |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,603 (GRCm39) |
I273F |
probably benign |
Het |
| Or5w19 |
T |
A |
2: 87,698,459 (GRCm39) |
N41K |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,760,200 (GRCm39) |
N263K |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,634 (GRCm39) |
L200P |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,258,756 (GRCm39) |
H570Y |
possibly damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,679 (GRCm39) |
I708F |
probably benign |
Het |
| Pkd1l2 |
A |
C |
8: 117,808,991 (GRCm39) |
D66E |
possibly damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,108,467 (GRCm39) |
D1170G |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,190,143 (GRCm39) |
H672L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,479,904 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,505 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pwwp3a |
G |
T |
10: 80,068,778 (GRCm39) |
R307S |
probably benign |
Het |
| Riok1 |
G |
T |
13: 38,234,831 (GRCm39) |
R300L |
probably damaging |
Het |
| Sbf2 |
G |
T |
7: 110,027,553 (GRCm39) |
T481K |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,863,098 (GRCm39) |
M11K |
probably damaging |
Het |
| Slc66a1 |
A |
T |
4: 139,027,391 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,299,280 (GRCm39) |
R992* |
probably null |
Het |
| Tmem8b |
C |
A |
4: 43,681,134 (GRCm39) |
R384S |
possibly damaging |
Het |
| Trim28 |
T |
C |
7: 12,761,761 (GRCm39) |
Y243H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,764,192 (GRCm39) |
M266T |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,539,437 (GRCm39) |
S368T |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttc6 |
G |
A |
12: 57,733,132 (GRCm39) |
V1092I |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,534,465 (GRCm39) |
T927I |
probably damaging |
Het |
| Zfr |
C |
T |
15: 12,140,730 (GRCm39) |
T259I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGTAACACTGCAAGGTGGAGAC -3'
(R):5'- ACCCAGCTCCATGCTTCGAATC -3'
Sequencing Primer
(F):5'- CACACATGGATGGTGTGAAC -3'
(R):5'- AGACTTCCCCTGCTCGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation