Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02266:Fastkd5'

286892

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fastkd5

Ensembl Gene

ENSMUSG00000079043

Gene Name

FAST kinase domains 5

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.826) question?

Stock #

IGL02266

Quality Score

Status

Chromosome

Chromosomal Location

130613840-130630027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130615561 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 370 (F370I)

Ref Sequence

ENSEMBL: ENSMUSP00000137385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028761] [ENSMUST00000110262] [ENSMUST00000140581] [ENSMUST00000179273]

Predicted Effect

probably benign
Transcript: ENSMUST00000028761

SMART Domains

Protein: ENSMUSP00000028761
Gene: ENSMUSG00000027300

Domain	Start	End	E-Value	Type
Ubox	262	331	4.47e-15	SMART
low complexity region	371	395	N/A	INTRINSIC
RING	481	525	3.14e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110262
AA Change: F370I

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

SMART Domains

Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: F370I

Domain	Start	End	E-Value	Type
Pfam:FAST_1	475	544	6e-22	PFAM
Pfam:FAST_2	555	646	7.2e-25	PFAM
RAP	742	801	6.92e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140581
AA Change: F370I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: F370I

Domain	Start	End	E-Value	Type
Pfam:FAST_1	474	546	2.6e-27	PFAM
Pfam:FAST_2	553	598	2.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179273
AA Change: F370I

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

SMART Domains

Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: F370I

Domain	Start	End	E-Value	Type
Pfam:FAST_1	474	546	1.5e-26	PFAM
Pfam:FAST_2	553	646	4.4e-29	PFAM
RAP	742	801	6.92e-14	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,268,201	Q1974*	probably null	Het
Actl11	G	T	9: 107,931,183	V902L	possibly damaging	Het
Adam11	T	C	11: 102,772,667	V274A	probably damaging	Het
Akr1b8	A	G	6: 34,354,273	I15V	probably benign	Het
Chrm3	T	A	13: 9,877,278	Q574L	probably damaging	Het
Crk	C	A	11: 75,679,589	R16S	probably damaging	Het
Ep400	T	C	5: 110,695,297		probably benign	Het
Eya1	T	C	1: 14,184,501	N369S	possibly damaging	Het
Fam220a	T	C	5: 143,563,571	V246A	possibly damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gpr75	A	C	11: 30,891,977	Q294P	probably benign	Het
Hspg2	T	C	4: 137,510,577	F204L	probably damaging	Het
Lrrc8c	A	C	5: 105,608,248	I630L	probably benign	Het
Narfl	T	A	17: 25,780,326	I238N	possibly damaging	Het
Nlrc4	T	C	17: 74,446,167	D407G	possibly damaging	Het
Olfr1054	T	A	2: 86,332,979	I126F	probably damaging	Het
Olfr1314	G	A	2: 112,092,243	L153F	probably benign	Het
Pank1	A	C	19: 34,813,686		probably benign	Het
Pde3b	A	G	7: 114,526,966	T812A	probably damaging	Het
Phtf2	T	G	5: 20,805,799	K63Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,573,614	H3456L	probably damaging	Het
Plcd1	A	G	9: 119,074,787		probably benign	Het
Ppip5k2	C	T	1: 97,733,972	V734I	possibly damaging	Het
Ppp2r2d	A	G	7: 138,868,437	N38S	probably damaging	Het
Rnpepl1	T	A	1: 92,916,889	W368R	probably damaging	Het
Sidt1	T	C	16: 44,254,985	D670G	possibly damaging	Het
Slc12a2	T	A	18: 57,912,020		probably benign	Het
Tekt5	A	T	16: 10,379,042	I315N	probably benign	Het
Trappc11	A	C	8: 47,505,731	C42G	probably damaging	Het
Trerf1	C	T	17: 47,315,405		noncoding transcript	Het
Ubqlnl	C	A	7: 104,149,547	E248*	probably null	Het
Ulk4	G	T	9: 121,081,700	T1086K	probably benign	Het
Unc45a	A	T	7: 80,328,486	D680E	probably damaging	Het
Vmn2r107	T	C	17: 20,356,777	Y346H	probably damaging	Het
Vmn2r73	A	G	7: 85,875,799	I47T	possibly damaging	Het
Zbtb9	T	C	17: 26,974,155	V178A	probably benign	Het
Zc3hav1	A	T	6: 38,332,168	M573K	probably benign	Het
Zfp608	T	C	18: 54,897,581	T1096A	probably benign	Het

Other mutations in Fastkd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Fastkd5	APN	2	130616377	missense	probably benign	0.14
IGL01148:Fastkd5	APN	2	130614685	missense	probably benign
IGL01765:Fastkd5	APN	2	130615734	missense	possibly damaging	0.95
IGL01806:Fastkd5	APN	2	130615612	missense	probably benign	0.02
IGL02879:Fastkd5	APN	2	130614421	missense	probably damaging	0.97
R0504:Fastkd5	UTSW	2	130615917	missense	probably benign	0.08
R0544:Fastkd5	UTSW	2	130615296	missense	probably damaging	1.00
R1140:Fastkd5	UTSW	2	130616215	missense	probably benign	0.00
R1459:Fastkd5	UTSW	2	130614797	missense	probably damaging	0.97
R1770:Fastkd5	UTSW	2	130614280	missense	probably damaging	1.00
R2519:Fastkd5	UTSW	2	130616194	missense	possibly damaging	0.56
R2566:Fastkd5	UTSW	2	130616365	missense	probably benign	0.00
R3080:Fastkd5	UTSW	2	130615453	missense	possibly damaging	0.89
R4496:Fastkd5	UTSW	2	130616581	missense	probably benign	0.01
R5566:Fastkd5	UTSW	2	130614301	missense	possibly damaging	0.88
R6516:Fastkd5	UTSW	2	130614301	missense	possibly damaging	0.88
R6993:Fastkd5	UTSW	2	130616539	missense	probably benign
R7032:Fastkd5	UTSW	2	130615944	missense	possibly damaging	0.92
R7049:Fastkd5	UTSW	2	130615511	missense	probably damaging	1.00
R7051:Fastkd5	UTSW	2	130614417	missense	probably damaging	1.00
R7331:Fastkd5	UTSW	2	130615727	missense	possibly damaging	0.79
R7348:Fastkd5	UTSW	2	130615135	missense	probably damaging	1.00
R7348:Fastkd5	UTSW	2	130616439	missense	probably benign	0.00
R7524:Fastkd5	UTSW	2	130616128	missense	probably benign	0.41
R7603:Fastkd5	UTSW	2	130615041	missense	possibly damaging	0.95
R7657:Fastkd5	UTSW	2	130616256	missense	probably benign	0.00
R7745:Fastkd5	UTSW	2	130615068	missense	probably damaging	1.00
R7912:Fastkd5	UTSW	2	130616637	missense	probably damaging	0.97
R8140:Fastkd5	UTSW	2	130615250	missense	possibly damaging	0.89
X0018:Fastkd5	UTSW	2	130616612	missense	possibly damaging	0.46

Posted On

2015-04-16