Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Fastkd5'

632467

Institutional Source

Beutler Lab

Gene Symbol

Fastkd5

Ensembl Gene

ENSMUSG00000079043

Gene Name

FAST kinase domains 5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130613840-130630027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130615250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 473 (D473E)

Ref Sequence

ENSEMBL: ENSMUSP00000105891 (fasta)

Gene Model

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

AlphaFold

Q7TMV3

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

possibly damaging
Transcript: ENSMUST00000110262
AA Change: D473E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: D473E

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: D473E

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

SMART Domains

Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: D473E

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

possibly damaging
Transcript: ENSMUST00000179273
AA Change: D473E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: D473E

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

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly damaging	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
IGL02266:Fastkd5	APN	2	130615561	missense	probably damaging	1.00
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
R8560:Fastkd5	UTSW	2	130615945	missense	probably benign	0.02
R8885:Fastkd5	UTSW	2	130615191	missense	probably benign	0.15
R9647:Fastkd5	UTSW	2	130615809	missense	probably damaging	1.00
X0018:Fastkd5	UTSW	2	130616612	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TGACAAATCCTGGGCTCAGAG -3'
(R):5'- AAAATGTTCCGCTTCACTCATGTAG -3'

Sequencing Primer
(F):5'- GCTCAGAGCAACATTTATGAACTC -3'
(R):5'- CGCTTCACTCATGTAGATCATATAC -3'

Posted On

2020-06-30