Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00163:Fastkd1'

1885

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: 0.070) question?

Stock #

IGL00163

Quality Score

Status

Chromosome

Chromosomal Location

69517159-69543860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69537893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 230 (S230C)

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: S230C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: S230C

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: S230C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: S230C

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,786,310 (GRCm39)	Q103*	probably null	Het
4933406P04Rik	C	A	10: 20,186,970 (GRCm39)		probably benign	Het
Adgrg6	T	C	10: 14,343,194 (GRCm39)	E251G	probably damaging	Het
Ago2	T	C	15: 72,998,302 (GRCm39)	H292R	probably benign	Het
Akr1c6	T	C	13: 4,498,977 (GRCm39)		probably benign	Het
Arhgap24	T	A	5: 103,008,265 (GRCm39)	M62K	possibly damaging	Het
Bicd1	A	G	6: 149,451,888 (GRCm39)	H834R	possibly damaging	Het
Ccdc77	G	T	6: 120,306,045 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,818,818 (GRCm39)	H337N	probably damaging	Het
Cep192	A	G	18: 68,013,871 (GRCm39)	T2424A	possibly damaging	Het
Cep78	T	C	19: 15,946,504 (GRCm39)	T443A	probably benign	Het
Chrna1	T	A	2: 73,400,986 (GRCm39)	E181D	probably benign	Het
Dmxl1	G	A	18: 49,984,534 (GRCm39)	D177N	probably damaging	Het
Eif3h	T	A	15: 51,650,195 (GRCm39)	I330F	probably damaging	Het
Fam184b	T	C	5: 45,697,091 (GRCm39)	E691G	probably benign	Het
Gipc2	T	C	3: 151,843,215 (GRCm39)	I141V	probably damaging	Het
Hsd17b2	A	T	8: 118,485,410 (GRCm39)	D291V	probably damaging	Het
Itpr2	G	A	6: 146,292,334 (GRCm39)	A420V	possibly damaging	Het
Jag1	C	T	2: 136,927,952 (GRCm39)		probably null	Het
Minar1	A	T	9: 89,473,150 (GRCm39)		probably benign	Het
Mmp1b	T	A	9: 7,387,946 (GRCm39)	Y16F	probably benign	Het
Muc4	G	T	16: 32,754,090 (GRCm38)	R1322M	probably benign	Het
Myo9b	T	C	8: 71,801,379 (GRCm39)	I1179T	probably benign	Het
Nos1ap	A	G	1: 170,342,175 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,174,199 (GRCm39)	V702E	probably damaging	Het
Or13d1	G	A	4: 52,971,058 (GRCm39)	V146M	possibly damaging	Het
Or1j21	A	G	2: 36,684,012 (GRCm39)	I255V	probably benign	Het
Or2ag17	T	A	7: 106,389,796 (GRCm39)	R137S	probably benign	Het
Or2y10	A	C	11: 49,454,747 (GRCm39)		probably benign	Het
Or4c31	A	T	2: 88,291,696 (GRCm39)	Y4F	probably benign	Het
Or4f7	A	C	2: 111,644,126 (GRCm39)		probably benign	Het
Osmr	A	T	15: 6,873,926 (GRCm39)	L157*	probably null	Het
Pdzph1	T	C	17: 59,281,791 (GRCm39)	T164A	possibly damaging	Het
Ptn	T	C	6: 36,720,424 (GRCm39)	K43E	probably benign	Het
Rbm45	T	C	2: 76,209,051 (GRCm39)	V340A	probably damaging	Het
Rnf5	C	T	17: 34,821,083 (GRCm39)	G83E	probably damaging	Het
Scin	G	T	12: 40,126,971 (GRCm39)	Q459K	probably benign	Het
Serpina5	C	A	12: 104,071,479 (GRCm39)	A362D	probably damaging	Het
Tex47	T	A	5: 7,355,468 (GRCm39)	Y216*	probably null	Het
Tll1	A	T	8: 64,469,170 (GRCm39)	H984Q	probably benign	Het
Tmem259	A	G	10: 79,815,568 (GRCm39)	V81A	probably benign	Het
Tns3	A	T	11: 8,401,066 (GRCm39)	S1077R	probably benign	Het
Trgv3	G	A	13: 19,427,381 (GRCm39)	S88N	probably benign	Het
Ttc17	A	G	2: 94,153,428 (GRCm39)		probably benign	Het
Tubgcp2	T	C	7: 139,610,935 (GRCm39)	T149A	possibly damaging	Het
Ulk1	G	A	5: 110,935,738 (GRCm39)	A25V	probably damaging	Het
Vps13d	T	C	4: 144,895,110 (GRCm39)	E378G	probably damaging	Het
Vsig10	A	G	5: 117,476,479 (GRCm39)	N311S	probably benign	Het
Zfp511	T	C	7: 139,617,429 (GRCm39)	Y144H	possibly damaging	Het

Other mutations in Fastkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12