Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Fastk'

199627

Institutional Source

Beutler Lab

Gene Symbol

Fastk

Ensembl Gene

ENSMUSG00000028959

Gene Name

Fas-activated serine/threonine kinase

Synonyms

0610011K02Rik

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24646036-24650280 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24646801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 403 (E403G)

Ref Sequence

ENSEMBL: ENSMUSP00000110695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030799] [ENSMUST00000030800] [ENSMUST00000080067] [ENSMUST00000115033] [ENSMUST00000115036] [ENSMUST00000115041] [ENSMUST00000115043] [ENSMUST00000123167] [ENSMUST00000127194] [ENSMUST00000115047] [ENSMUST00000115049] [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 damaging
Transcript: ENSMUST00000030800
AA Change: E403G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959
AA Change: E403G

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: E266G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959
AA Change: E266G

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: E403G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959
AA Change: E403G

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: ENSMUST00000132109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134958

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

probably benign
Transcript: ENSMUST00000144389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151900

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
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'- CTGTTAGACCAGCAACCAAGGCTC -3'
(R):5'- AGCTTGAACTCCCAGGATACCAAGG -3'

Sequencing Primer
(F):5'- TGTCCTCATAGGCAGCACAG -3'
(R):5'- AGGATACCAAGGCCCCCG -3'

Posted On

2014-05-23