Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02408:Fastkd1'

292171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fastkd1

Ensembl Gene

ENSMUSG00000027086

Gene Name

FAST kinase domains 1

Synonyms

5330408N05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02408

Quality Score

Status

Chromosome

Chromosomal Location

69517159-69543860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69532945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 474 (R474H)

Ref Sequence

ENSEMBL: ENSMUSP00000099767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073152] [ENSMUST00000102706]

AlphaFold

Q6DI86

Predicted Effect

probably benign
Transcript: ENSMUST00000073152
AA Change: R474H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: R474H

Domain	Start	End	E-Value	Type
low complexity region	179	191	N/A	INTRINSIC
low complexity region	316	324	N/A	INTRINSIC
low complexity region	385	396	N/A	INTRINSIC
low complexity region	461	472	N/A	INTRINSIC
Pfam:FAST_1	560	628	6.6e-25	PFAM
Pfam:FAST_2	645	730	6.4e-26	PFAM
RAP	763	822	4.38e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102706
AA Change: R474H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: R474H

Domain	Start	End	E-Value	Type
low complexity region	179	191	N/A	INTRINSIC
low complexity region	316	324	N/A	INTRINSIC
low complexity region	385	396	N/A	INTRINSIC
low complexity region	461	472	N/A	INTRINSIC
Pfam:FAST_1	530	600	2.2e-26	PFAM
Pfam:FAST_2	614	701	4.4e-31	PFAM
RAP	734	793	4.38e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140776

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,621,130 (GRCm39)	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,062,444 (GRCm39)	L498P	possibly damaging	Het
Acot11	A	G	4: 106,615,578 (GRCm39)	F271S	probably damaging	Het
Acr	T	A	15: 89,454,217 (GRCm39)	Y185N	probably damaging	Het
Adcy10	C	T	1: 165,365,949 (GRCm39)	R489C	probably damaging	Het
Arsb	A	G	13: 93,930,670 (GRCm39)	T213A	probably benign	Het
Atg2a	T	A	19: 6,291,858 (GRCm39)	C11*	probably null	Het
B3galt6	A	T	4: 156,076,152 (GRCm39)	Y308N	probably damaging	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Crat	T	A	2: 30,297,146 (GRCm39)	D269V	probably damaging	Het
Crim1	T	A	17: 78,623,083 (GRCm39)	I427N	possibly damaging	Het
Dock3	T	C	9: 106,790,298 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,407,776 (GRCm39)	V374E	probably damaging	Het
Dtl	A	G	1: 191,273,352 (GRCm39)	S519P	probably benign	Het
Fbxo10	T	C	4: 45,058,361 (GRCm39)	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,272,770 (GRCm39)	L828P	probably damaging	Het
Gc	T	C	5: 89,593,255 (GRCm39)	S55G	probably benign	Het
Gm6455	T	G	5: 10,917,257 (GRCm39)		noncoding transcript	Het
Gnai2	T	C	9: 107,493,393 (GRCm39)	T280A	probably benign	Het
Hmgn2	A	G	4: 133,693,260 (GRCm39)		probably null	Het
Jmjd1c	G	T	10: 67,062,161 (GRCm39)	A1505S	probably benign	Het
Lrriq1	T	C	10: 102,982,142 (GRCm39)	K1393E	probably benign	Het
Mcam	A	G	9: 44,051,547 (GRCm39)	N469D	probably benign	Het
Mrpl47	A	G	3: 32,790,789 (GRCm39)		probably null	Het
Mslnl	C	T	17: 25,966,972 (GRCm39)	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,456 (GRCm39)	V598A	probably benign	Het
Npff	A	T	15: 102,433,000 (GRCm39)	L15Q	probably null	Het
Obsl1	G	T	1: 75,481,890 (GRCm39)	Q327K	probably damaging	Het
Or13a18	T	C	7: 140,190,844 (GRCm39)	V255A	probably damaging	Het
Or4c58	T	A	2: 89,675,315 (GRCm39)	M1L	probably benign	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Or7e165	A	T	9: 19,694,711 (GRCm39)	Y94F	probably benign	Het
Or8b50	G	A	9: 38,518,417 (GRCm39)	G219S	possibly damaging	Het
Pdzd2	T	A	15: 12,375,851 (GRCm39)	H1428L	probably benign	Het
Phldb1	T	C	9: 44,627,203 (GRCm39)	E414G	possibly damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,582,789 (GRCm39)	S889*	probably null	Het
Setx	T	A	2: 29,023,942 (GRCm39)	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,184,649 (GRCm39)	S214A	probably benign	Het
Slc30a5	A	C	13: 100,950,232 (GRCm39)	L285R	probably damaging	Het
Taar7a	T	G	10: 23,868,500 (GRCm39)	I294L	probably benign	Het
Tfap2b	T	A	1: 19,304,485 (GRCm39)	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,512,989 (GRCm39)	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,473,523 (GRCm39)	E501G	probably benign	Het
Xpot	T	C	10: 121,439,070 (GRCm39)	H709R	probably damaging	Het
Zfhx3	T	A	8: 109,682,004 (GRCm39)		probably benign	Het
Zscan22	T	G	7: 12,640,426 (GRCm39)	H223Q	probably benign	Het

Other mutations in Fastkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fastkd1	APN	2	69,537,893 (GRCm39)	missense	probably benign	0.02
IGL00702:Fastkd1	APN	2	69,538,889 (GRCm39)	missense	probably damaging	0.99
IGL00960:Fastkd1	APN	2	69,524,997 (GRCm39)	splice site	probably benign
IGL01154:Fastkd1	APN	2	69,520,404 (GRCm39)	splice site	probably null
IGL01463:Fastkd1	APN	2	69,520,405 (GRCm39)	critical splice donor site	probably null
IGL01913:Fastkd1	APN	2	69,538,845 (GRCm39)	splice site	probably benign
IGL01977:Fastkd1	APN	2	69,524,932 (GRCm39)	missense	possibly damaging	0.64
IGL02715:Fastkd1	APN	2	69,542,469 (GRCm39)	critical splice donor site	probably null
IGL03411:Fastkd1	APN	2	69,537,703 (GRCm39)	missense	probably damaging	0.99
PIT4519001:Fastkd1	UTSW	2	69,520,501 (GRCm39)	missense	probably damaging	0.97
R0541:Fastkd1	UTSW	2	69,532,750 (GRCm39)	missense	probably damaging	1.00
R0612:Fastkd1	UTSW	2	69,542,727 (GRCm39)	missense	probably benign	0.03
R1170:Fastkd1	UTSW	2	69,538,993 (GRCm39)	splice site	probably benign
R1499:Fastkd1	UTSW	2	69,538,982 (GRCm39)	critical splice acceptor site	probably null
R1586:Fastkd1	UTSW	2	69,542,492 (GRCm39)	missense	probably benign	0.43
R1698:Fastkd1	UTSW	2	69,532,813 (GRCm39)	missense	probably benign	0.22
R2172:Fastkd1	UTSW	2	69,530,477 (GRCm39)	missense	probably damaging	1.00
R2240:Fastkd1	UTSW	2	69,527,297 (GRCm39)	missense	probably benign	0.01
R2327:Fastkd1	UTSW	2	69,535,872 (GRCm39)	nonsense	probably null
R2897:Fastkd1	UTSW	2	69,532,960 (GRCm39)	missense	probably damaging	1.00
R4120:Fastkd1	UTSW	2	69,537,654 (GRCm39)	missense	probably damaging	0.98
R4544:Fastkd1	UTSW	2	69,542,655 (GRCm39)	missense	probably damaging	1.00
R4546:Fastkd1	UTSW	2	69,542,655 (GRCm39)	missense	probably damaging	1.00
R4798:Fastkd1	UTSW	2	69,521,651 (GRCm39)	missense	probably benign	0.38
R4993:Fastkd1	UTSW	2	69,533,084 (GRCm39)	missense	probably damaging	0.99
R5284:Fastkd1	UTSW	2	69,542,532 (GRCm39)	missense	probably benign	0.01
R5668:Fastkd1	UTSW	2	69,537,725 (GRCm39)	missense	possibly damaging	0.92
R6869:Fastkd1	UTSW	2	69,533,104 (GRCm39)	missense	probably benign	0.02
R6870:Fastkd1	UTSW	2	69,538,958 (GRCm39)	missense	probably benign	0.05
R7062:Fastkd1	UTSW	2	69,534,666 (GRCm39)	missense	possibly damaging	0.74
R7576:Fastkd1	UTSW	2	69,524,988 (GRCm39)	missense	probably damaging	1.00
R7644:Fastkd1	UTSW	2	69,527,184 (GRCm39)	splice site	probably null
R7971:Fastkd1	UTSW	2	69,537,703 (GRCm39)	missense	probably benign	0.19
R8336:Fastkd1	UTSW	2	69,542,489 (GRCm39)	missense	probably damaging	1.00
R8403:Fastkd1	UTSW	2	69,517,425 (GRCm39)	nonsense	probably null
R8422:Fastkd1	UTSW	2	69,532,778 (GRCm39)	missense	probably damaging	1.00
R9041:Fastkd1	UTSW	2	69,532,715 (GRCm39)	missense	probably benign

Posted On

2015-04-16