Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Fastkd1'

548309

Institutional Source

Beutler Lab

Gene Symbol

Fastkd1

Ensembl Gene

ENSMUSG00000027086

Gene Name

FAST kinase domains 1

Synonyms

5330408N05Rik

MMRRC Submission

045158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69686815-69713516 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69704322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 368 (I368K)

Ref Sequence

ENSEMBL: ENSMUSP00000099767 (fasta)

Gene Model

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

AlphaFold

Q6DI86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073152
AA Change: I368K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: I368K

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

possibly damaging
Transcript: ENSMUST00000102706
AA Change: I368K

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: I368K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,599,146 (GRCm38)	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,332,115 (GRCm38)	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,538,522 (GRCm38)	H536R	probably benign	Het
Adgrb3	T	C	1: 25,826,085 (GRCm38)	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,585,273 (GRCm38)	M235L	probably benign	Het
Arhgap44	T	C	11: 65,011,932 (GRCm38)	T570A	probably benign	Het
Astn1	A	G	1: 158,688,511 (GRCm38)		probably null	Het
Camsap3	A	G	8: 3,607,834 (GRCm38)		probably benign	Het
Ccdc73	C	T	2: 104,951,878 (GRCm38)	A193V	probably damaging	Het
Ccl20	G	A	1: 83,117,814 (GRCm38)	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,626,811 (GRCm38)	E16G	probably damaging	Het
Celsr2	T	A	3: 108,402,510 (GRCm38)	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,417,625 (GRCm38)	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,677 (GRCm38)	A106V	probably benign	Het
Ctdspl	G	A	9: 119,037,470 (GRCm38)	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,260,832 (GRCm38)	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,995,546 (GRCm38)		probably null	Het
Dnajc16	A	G	4: 141,766,690 (GRCm38)	F549L	probably damaging	Het
Dnm3	T	A	1: 162,134,491 (GRCm38)	K50*	probably null	Het
Eci1	C	T	17: 24,426,740 (GRCm38)		probably benign	Het
Eif2b4	C	T	5: 31,192,831 (GRCm38)	C49Y	probably benign	Het
Emc3	A	T	6: 113,522,796 (GRCm38)	I56N	probably damaging	Het
Enthd1	A	G	15: 80,452,544 (GRCm38)	L563P	probably damaging	Het
Ercc4	T	A	16: 13,132,947 (GRCm38)	I635K	probably damaging	Het
Espl1	A	C	15: 102,298,896 (GRCm38)	N265T	probably benign	Het
Fads2	T	C	19: 10,065,598 (GRCm38)		probably null	Het
Fam186a	G	A	15: 99,933,640 (GRCm38)		probably benign	Het
Fat1	G	A	8: 44,950,216 (GRCm38)	M1I	probably null	Het
Foxj1	T	C	11: 116,331,993 (GRCm38)	E328G	probably benign	Het
Gfod2	T	C	8: 105,722,876 (GRCm38)		probably benign	Het
Gm6525	C	T	3: 84,174,891 (GRCm38)	R40C	probably benign	Het
Gna12	G	A	5: 140,785,485 (GRCm38)	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,141,092 (GRCm38)	M11V	probably benign	Het
Kcnj14	T	C	7: 45,817,890 (GRCm38)	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,086,297 (GRCm38)	S496T	probably benign	Het
Ltn1	T	C	16: 87,427,603 (GRCm38)	T78A	probably damaging	Het
Matr3	T	A	18: 35,579,019 (GRCm38)		probably null	Het
Mcpt4	A	G	14: 56,060,668 (GRCm38)	M142T	probably benign	Het
Mroh7	A	G	4: 106,683,980 (GRCm38)	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,213,791 (GRCm38)	L12F	probably benign	Het
Myo3b	G	A	2: 70,217,157 (GRCm38)	V308I	probably benign	Het
Nfasc	A	G	1: 132,601,969 (GRCm38)		probably null	Het
Npc1l1	T	A	11: 6,217,807 (GRCm38)	M995L	probably benign	Het
Nvl	A	G	1: 181,112,334 (GRCm38)	I617T	probably benign	Het
Oas1h	C	A	5: 120,861,465 (GRCm38)		probably benign	Het
Oasl2	T	A	5: 114,911,091 (GRCm38)	Y197*	probably null	Het
Olfr1156	T	C	2: 87,950,224 (GRCm38)	E3G	probably benign	Het
Olfr262	T	C	19: 12,240,725 (GRCm38)	N312S	probably benign	Het
Olfr495	C	T	7: 108,395,830 (GRCm38)	R237*	probably null	Het
Olfr598	T	C	7: 103,329,086 (GRCm38)	V200A	probably benign	Het
Olfr728	A	G	14: 50,140,450 (GRCm38)	L63P	probably damaging	Het
Olfr955	A	T	9: 39,470,057 (GRCm38)	I223N	probably benign	Het
Orc6	T	C	8: 85,302,908 (GRCm38)	V27A	probably damaging	Het
Parp4	A	T	14: 56,614,759 (GRCm38)	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,825,077 (GRCm38)	S826R	probably damaging	Het
Phldb1	T	C	9: 44,696,135 (GRCm38)	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,552,473 (GRCm38)	S21G	probably benign	Het
Ppp1r18	C	A	17: 35,868,211 (GRCm38)	T326K	probably damaging	Het
Psg26	A	G	7: 18,482,596 (GRCm38)	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,226,650 (GRCm38)	D265E	probably benign	Het
Rasgrp4	T	C	7: 29,150,194 (GRCm38)	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,465,654 (GRCm38)	V621L	probably benign	Het
Sart3	T	C	5: 113,745,602 (GRCm38)	K783R	possibly damaging	Het
Slc23a2	T	A	2: 132,091,269 (GRCm38)	I90F	probably damaging	Het
Slc5a2	A	T	7: 128,270,040 (GRCm38)	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,293,001 (GRCm38)	G128A	probably damaging	Het
Smcr8	A	T	11: 60,780,354 (GRCm38)	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,640,971 (GRCm38)	D519E	probably damaging	Het
Smurf1	A	T	5: 144,893,546 (GRCm38)		probably null	Het
Spata18	T	A	5: 73,659,293 (GRCm38)	N125K	probably benign	Het
Spice1	T	A	16: 44,357,896 (GRCm38)	M94K	probably damaging	Het
Stard4	T	C	18: 33,205,534 (GRCm38)		probably null	Het
Stx17	A	G	4: 48,140,442 (GRCm38)	D49G	probably benign	Het
Tbce	T	C	13: 14,019,795 (GRCm38)	D93G	possibly damaging	Het
Tbx21	T	A	11: 97,098,893 (GRCm38)	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,208,826 (GRCm38)		probably benign	Het
Tmem209	C	T	6: 30,502,017 (GRCm38)	R62H	probably damaging	Het
Tmem237	A	T	1: 59,119,612 (GRCm38)		probably null	Het
Tmprss9	T	C	10: 80,895,049 (GRCm38)	I803T	probably benign	Het
Trip4	C	T	9: 65,885,010 (GRCm38)	A7T	probably benign	Het
Unc13a	T	C	8: 71,663,237 (GRCm38)	D107G	probably benign	Het
Uso1	C	A	5: 92,192,740 (GRCm38)	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,219,988 (GRCm38)	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,577,120 (GRCm38)	C367R	probably damaging	Het
Znrf3	T	A	11: 5,281,550 (GRCm38)	E558D	probably damaging	Het

Other mutations in Fastkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Fastkd1	APN	2	69,707,549 (GRCm38)	missense	probably benign	0.02
IGL00702:Fastkd1	APN	2	69,708,545 (GRCm38)	missense	probably damaging	0.99
IGL00960:Fastkd1	APN	2	69,694,653 (GRCm38)	splice site	probably benign
IGL01154:Fastkd1	APN	2	69,690,060 (GRCm38)	splice site	probably null
IGL01463:Fastkd1	APN	2	69,690,061 (GRCm38)	critical splice donor site	probably null
IGL01913:Fastkd1	APN	2	69,708,501 (GRCm38)	splice site	probably benign
IGL01977:Fastkd1	APN	2	69,694,588 (GRCm38)	missense	possibly damaging	0.64
IGL02408:Fastkd1	APN	2	69,702,601 (GRCm38)	missense	probably benign
IGL02715:Fastkd1	APN	2	69,712,125 (GRCm38)	critical splice donor site	probably null
IGL03411:Fastkd1	APN	2	69,707,359 (GRCm38)	missense	probably damaging	0.99
PIT4519001:Fastkd1	UTSW	2	69,690,157 (GRCm38)	missense	probably damaging	0.97
R0541:Fastkd1	UTSW	2	69,702,406 (GRCm38)	missense	probably damaging	1.00
R0612:Fastkd1	UTSW	2	69,712,383 (GRCm38)	missense	probably benign	0.03
R1170:Fastkd1	UTSW	2	69,708,649 (GRCm38)	splice site	probably benign
R1499:Fastkd1	UTSW	2	69,708,638 (GRCm38)	critical splice acceptor site	probably null
R1586:Fastkd1	UTSW	2	69,712,148 (GRCm38)	missense	probably benign	0.43
R1698:Fastkd1	UTSW	2	69,702,469 (GRCm38)	missense	probably benign	0.22
R2172:Fastkd1	UTSW	2	69,700,133 (GRCm38)	missense	probably damaging	1.00
R2240:Fastkd1	UTSW	2	69,696,953 (GRCm38)	missense	probably benign	0.01
R2327:Fastkd1	UTSW	2	69,705,528 (GRCm38)	nonsense	probably null
R2897:Fastkd1	UTSW	2	69,702,616 (GRCm38)	missense	probably damaging	1.00
R4120:Fastkd1	UTSW	2	69,707,310 (GRCm38)	missense	probably damaging	0.98
R4544:Fastkd1	UTSW	2	69,712,311 (GRCm38)	missense	probably damaging	1.00
R4546:Fastkd1	UTSW	2	69,712,311 (GRCm38)	missense	probably damaging	1.00
R4798:Fastkd1	UTSW	2	69,691,307 (GRCm38)	missense	probably benign	0.38
R4993:Fastkd1	UTSW	2	69,702,740 (GRCm38)	missense	probably damaging	0.99
R5284:Fastkd1	UTSW	2	69,712,188 (GRCm38)	missense	probably benign	0.01
R5668:Fastkd1	UTSW	2	69,707,381 (GRCm38)	missense	possibly damaging	0.92
R6869:Fastkd1	UTSW	2	69,702,760 (GRCm38)	missense	probably benign	0.02
R6870:Fastkd1	UTSW	2	69,708,614 (GRCm38)	missense	probably benign	0.05
R7576:Fastkd1	UTSW	2	69,694,644 (GRCm38)	missense	probably damaging	1.00
R7644:Fastkd1	UTSW	2	69,696,840 (GRCm38)	splice site	probably null
R7971:Fastkd1	UTSW	2	69,707,359 (GRCm38)	missense	probably benign	0.19
R8336:Fastkd1	UTSW	2	69,712,145 (GRCm38)	missense	probably damaging	1.00
R8403:Fastkd1	UTSW	2	69,687,081 (GRCm38)	nonsense	probably null
R8422:Fastkd1	UTSW	2	69,702,434 (GRCm38)	missense	probably damaging	1.00
R9041:Fastkd1	UTSW	2	69,702,371 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACACTCAGGGTTCATATATGC -3'
(R):5'- AACTGTTCTTGGCAGCAGGG -3'

Sequencing Primer
(F):5'- CACTCAGGGTTCATATATGCTAATAC -3'
(R):5'- CAGATCATTGTGAGCCACCATGTG -3'

Posted On

2019-05-13