Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Hykk'

77496

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

C630028N24Rik, Agphd1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54824574-54857208 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54844601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 222 (R222Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039742]

AlphaFold

Q5U5V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000039742
AA Change: R222Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: R222Q

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:APH	36	300	2.2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124295

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,624 (GRCm39)	R145H	probably damaging	Het
Adam26a	C	T	8: 44,021,439 (GRCm39)	V684I	probably benign	Het
Alk	T	C	17: 72,910,195 (GRCm39)	I170M	probably benign	Het
Apc2	T	C	10: 80,151,239 (GRCm39)	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,401,992 (GRCm39)	T1219A	probably damaging	Het
Bnip1	T	C	17: 27,008,679 (GRCm39)	S94P	probably benign	Het
Cftr	A	G	6: 18,270,224 (GRCm39)	I805V	probably benign	Het
Col25a1	T	A	3: 130,378,375 (GRCm39)	D609E	probably damaging	Het
Cplane1	T	A	15: 8,276,669 (GRCm39)	V2771E	unknown	Het
Cyp2g1	A	G	7: 26,514,216 (GRCm39)	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,771,101 (GRCm39)	T1098I	probably damaging	Het
Ddx39a	T	A	8: 84,446,452 (GRCm39)	C74S	possibly damaging	Het
E2f3	C	T	13: 30,169,543 (GRCm39)	A37T	probably benign	Het
Emilin2	A	G	17: 71,580,815 (GRCm39)	M637T	probably benign	Het
Exosc7	T	C	9: 122,948,358 (GRCm39)	L93P	probably benign	Het
F2	T	C	2: 91,460,545 (GRCm39)	E316G	probably benign	Het
Fat4	A	C	3: 39,053,258 (GRCm39)	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,981,344 (GRCm39)	K160E	probably benign	Het
Foxi2	A	G	7: 135,013,459 (GRCm39)	T230A	probably benign	Het
Fthl17a	A	G	X: 84,313,679 (GRCm39)	N154S	possibly damaging	Het
Il18rap	T	A	1: 40,582,150 (GRCm39)	V357E	probably damaging	Het
Ing4	A	G	6: 125,020,923 (GRCm39)	E15G	probably damaging	Het
Irak1	T	C	X: 73,060,189 (GRCm39)	D679G	probably damaging	Het
Itga1	T	C	13: 115,143,568 (GRCm39)	E321G	probably benign	Het
Nudt1	T	A	5: 140,321,076 (GRCm39)		probably null	Het
Nup58	A	G	14: 60,480,931 (GRCm39)	F138S	probably damaging	Het
Or10al6	A	T	17: 38,082,804 (GRCm39)	M87L	probably damaging	Het
Or2a5	G	T	6: 42,873,532 (GRCm39)	W49L	probably benign	Het
Pllp	T	C	8: 95,406,103 (GRCm39)	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,887,267 (GRCm39)	V37A	probably damaging	Het
Poglut3	T	G	9: 53,302,011 (GRCm39)	L32R	probably damaging	Het
Psme4	A	G	11: 30,757,797 (GRCm39)	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Sash1	C	T	10: 8,605,673 (GRCm39)	V906M	probably benign	Het
Scn1a	A	T	2: 66,130,128 (GRCm39)	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,752,989 (GRCm39)	S160C	probably benign	Het
Tex29	T	C	8: 11,904,157 (GRCm39)	V99A	probably benign	Het
Tg	A	T	15: 66,596,993 (GRCm39)	N79I	probably damaging	Het
Tie1	T	C	4: 118,339,860 (GRCm39)	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,593,452 (GRCm39)	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,740,968 (GRCm39)	G202S	possibly damaging	Het

Other mutations in Hykk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Hykk	APN	9	54,827,842 (GRCm39)	missense	possibly damaging	0.83
IGL02890:Hykk	APN	9	54,827,995 (GRCm39)	missense	probably benign	0.04
hike	UTSW	9	54,853,763 (GRCm39)	missense	probably benign	0.00
spatziergangen	UTSW	9	54,828,010 (GRCm39)	missense	possibly damaging	0.53
BB001:Hykk	UTSW	9	54,829,524 (GRCm39)	missense	probably damaging	1.00
BB011:Hykk	UTSW	9	54,829,524 (GRCm39)	missense	probably damaging	1.00
R0070:Hykk	UTSW	9	54,829,632 (GRCm39)	splice site	probably benign
R0734:Hykk	UTSW	9	54,853,716 (GRCm39)	missense	possibly damaging	0.93
R1905:Hykk	UTSW	9	54,853,667 (GRCm39)	missense	probably benign
R2322:Hykk	UTSW	9	54,853,418 (GRCm39)	missense	probably benign	0.00
R4632:Hykk	UTSW	9	54,853,800 (GRCm39)	missense	probably benign	0.01
R4846:Hykk	UTSW	9	54,827,890 (GRCm39)	missense	probably damaging	1.00
R5088:Hykk	UTSW	9	54,853,763 (GRCm39)	missense	probably benign	0.00
R5410:Hykk	UTSW	9	54,853,350 (GRCm39)	missense	probably damaging	1.00
R6292:Hykk	UTSW	9	54,828,110 (GRCm39)	critical splice donor site	probably null
R6416:Hykk	UTSW	9	54,853,643 (GRCm39)	missense	probably benign	0.03
R6983:Hykk	UTSW	9	54,853,793 (GRCm39)	missense	probably benign	0.00
R7261:Hykk	UTSW	9	54,828,010 (GRCm39)	missense	possibly damaging	0.53
R7276:Hykk	UTSW	9	54,853,502 (GRCm39)	missense	probably damaging	1.00
R7924:Hykk	UTSW	9	54,829,524 (GRCm39)	missense	probably damaging	1.00
R8539:Hykk	UTSW	9	54,844,444 (GRCm39)	missense	probably benign	0.00
R9646:Hykk	UTSW	9	54,853,521 (GRCm39)	missense	probably benign	0.02
Z1177:Hykk	UTSW	9	54,853,713 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTTCATCGGGAGAACTTCATCTGGAATC -3'
(R):5'- GGTAACTCAGGGAGAGCGTCTACA -3'

Sequencing Primer
(F):5'- CATCTGGAATCTGAAAAATGTTCCTC -3'
(R):5'- gaggcagaggcaggcag -3'

Posted On

2013-10-16