Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Fastkd5'

588103

Institutional Source

Beutler Lab

Gene Symbol

Fastkd5

Ensembl Gene

ENSMUSG00000079043

Gene Name

FAST kinase domains 5

Synonyms

MMRRC Submission

045713-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130613840-130630027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130615041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 543 (V543A)

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: V543A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: V543A

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: V543A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: V543A

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: V543A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: V543A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably 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
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
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'- AGAGAGTTTCTAGGAATTCAGGC -3'
(R):5'- TGTTGCCAAAATTCTGTGGTCC -3'

Sequencing Primer
(F):5'- GGAATTCAGGCTTTGATCTCATATCC -3'
(R):5'- CCAAAATTCTGTGGTCCTTTGGAAC -3'

Posted On

2019-10-24