Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00702:Fastkd1'

10690

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 #

IGL00702

Quality Score

Status

Chromosome

Chromosomal Location

69517159-69543860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69538889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 166 (V166I)

Ref Sequence

ENSEMBL: ENSMUSP00000099767 (fasta)

Gene Model

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

AlphaFold

Q6DI86

Predicted Effect

probably damaging
Transcript: ENSMUST00000073152
AA Change: V166I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: V166I

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 damaging
Transcript: ENSMUST00000102706
AA Change: V166I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: V166I

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: ENSMUST00000129260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140776

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	A	G	9: 53,423,131 (GRCm39)	V665A	probably benign	Het
Hsdl2	A	G	4: 59,596,892 (GRCm39)	K57R	probably benign	Het
Krt39	T	G	11: 99,409,889 (GRCm39)	Q216P	probably damaging	Het
Lifr	T	C	15: 7,215,220 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,578,318 (GRCm39)	V144A	probably benign	Het
Rmdn1	G	A	4: 19,605,421 (GRCm39)	S255N	probably damaging	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Ugt2b5	A	T	5: 87,273,078 (GRCm39)	N529K	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
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
IGL02408:Fastkd1	APN	2	69,532,945 (GRCm39)	missense	probably benign
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

2012-12-06