Mutagenetix > Incidental Mutation

Incidental Mutation 'R6671:Fastk'

527130

Institutional Source

Beutler Lab

Gene Symbol

Fastk

Ensembl Gene

ENSMUSG00000028959

Gene Name

Fas-activated serine/threonine kinase

Synonyms

0610011K02Rik

MMRRC Submission

044791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24646036-24650280 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24646607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 308 (D308G)

Ref Sequence

ENSEMBL: ENSMUSP00000110693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030799] [ENSMUST00000030800] [ENSMUST00000080067] [ENSMUST00000115033] [ENSMUST00000115036] [ENSMUST00000115041] [ENSMUST00000115043] [ENSMUST00000144389] [ENSMUST00000115049] [ENSMUST00000123167] [ENSMUST00000127194] [ENSMUST00000115047]

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

possibly damaging
Transcript: ENSMUST00000030800
AA Change: D445G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: D445G

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: D308G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959
AA Change: D308G

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: D445G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: D445G

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: ENSMUST00000144389

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

noncoding transcript
Transcript: ENSMUST00000134958

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

noncoding transcript
Transcript: ENSMUST00000123144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139307

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

noncoding transcript
Transcript: ENSMUST00000132109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

97% (32/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	T	C	6: 131,528,313 (GRCm39)		probably null	Het
Abce1	A	G	8: 80,415,806 (GRCm39)	V404A	probably benign	Het
Cpd	T	A	11: 76,686,359 (GRCm39)	I990F	probably damaging	Het
Ddhd1	CA	C	14: 45,894,689 (GRCm39)		probably null	Het
Dnajb6	A	G	5: 29,953,418 (GRCm39)	E17G	probably damaging	Het
Fkbp14	A	G	6: 54,556,662 (GRCm39)	Y69H	probably damaging	Het
Gldn	T	C	9: 54,245,691 (GRCm39)	L414P	probably damaging	Het
Glmn	T	A	5: 107,697,280 (GRCm39)	M487L	probably benign	Het
Gm3404	C	A	5: 146,464,487 (GRCm39)	R163S	probably benign	Het
Gm5591	T	G	7: 38,219,523 (GRCm39)	D450A	possibly damaging	Het
Gucy1b1	T	C	3: 81,941,715 (GRCm39)	T575A	probably benign	Het
Hydin	T	A	8: 111,327,950 (GRCm39)	V4819D	probably damaging	Het
Ikbip	A	G	10: 90,932,469 (GRCm39)		probably null	Het
Mertk	G	T	2: 128,593,943 (GRCm39)		probably null	Het
Mfsd1	T	C	3: 67,492,995 (GRCm39)	V93A	possibly damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Myo3a	A	T	2: 22,299,333 (GRCm39)	N269Y	probably damaging	Het
Nisch	A	T	14: 30,926,420 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,576,877 (GRCm39)	V125A	probably benign	Het
Pla2g4a	A	G	1: 149,763,382 (GRCm39)	I93T	probably benign	Het
Prrc2c	A	G	1: 162,525,154 (GRCm39)	I484T	probably damaging	Het
Qrich1	T	A	9: 108,410,985 (GRCm39)	I170N	probably benign	Het
Rb1	A	T	14: 73,434,706 (GRCm39)	M904K	probably damaging	Het
Rgs11	A	T	17: 26,427,272 (GRCm39)	K399M	probably damaging	Het
Tmprss13	C	T	9: 45,254,529 (GRCm39)	T432M	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Vps53	A	G	11: 76,025,332 (GRCm39)	Y171H	probably damaging	Het
Zbtb8b	C	T	4: 129,321,577 (GRCm39)	R395Q	probably damaging	Het
Zfp81	A	T	17: 33,554,413 (GRCm39)	C134S	probably benign	Het
Zranb1	A	G	7: 132,573,042 (GRCm39)	D403G	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
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
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'- AATGCCAGCGTTCTCTCAG -3'
(R):5'- TCACAAGGACATGGTCGCTG -3'

Sequencing Primer
(F):5'- AGCGTTCTCTCAGCATCAG -3'
(R):5'- TGCGCCAGCTATTAGGGG -3'

Posted On

2018-07-23