Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02890:Hykk'

363152

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02890

Quality Score

Status

Chromosome

Chromosomal Location

54824574-54857208 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54827995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 78 (P78L)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

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

AlphaFold

Q5U5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000039742
AA Change: P78L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: P78L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135648

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	T	8: 41,278,190 (GRCm39)	I194L	probably benign	Het
Akirin1	A	G	4: 123,631,855 (GRCm39)	V171A	probably damaging	Het
Camk2b	A	T	11: 5,951,340 (GRCm39)	D91E	possibly damaging	Het
Ccser1	A	G	6: 62,356,815 (GRCm39)	D751G	probably damaging	Het
D6Wsu163e	G	A	6: 126,951,450 (GRCm39)	G500D	probably damaging	Het
Dchs1	G	T	7: 105,405,698 (GRCm39)	D2395E	probably damaging	Het
Entrep3	A	T	3: 89,094,089 (GRCm39)	T223S	possibly damaging	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	A	G	1: 71,637,531 (GRCm39)		probably null	Het
Galnt14	A	C	17: 73,816,519 (GRCm39)		probably null	Het
Gemin4	A	C	11: 76,102,090 (GRCm39)	S890R	probably damaging	Het
Glrp1	T	A	1: 88,437,510 (GRCm39)		probably null	Het
Grik1	A	G	16: 87,693,690 (GRCm39)		probably benign	Het
H2bc14	G	T	13: 21,906,356 (GRCm39)	R30L	probably benign	Het
Hspa12a	C	T	19: 58,809,431 (GRCm39)		probably null	Het
Kctd13	G	A	7: 126,529,903 (GRCm39)	G115R	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Ltn1	C	T	16: 87,206,185 (GRCm39)		probably null	Het
Mat2a	A	G	6: 72,413,229 (GRCm39)	L167P	probably damaging	Het
Myo6	A	G	9: 80,173,456 (GRCm39)	E532G	probably damaging	Het
Nrbp2	G	T	15: 75,961,306 (GRCm39)	L272M	probably damaging	Het
Nrdc	A	G	4: 108,911,116 (GRCm39)	D790G	possibly damaging	Het
Or4e5	T	A	14: 52,728,368 (GRCm39)	T18S	probably benign	Het
Or5k16	T	C	16: 58,736,737 (GRCm39)	D89G	probably benign	Het
Or8g26	T	C	9: 39,095,564 (GRCm39)	L27P	probably damaging	Het
Pcdh10	A	T	3: 45,347,052 (GRCm39)	H949L	probably damaging	Het
Pikfyve	A	G	1: 65,269,956 (GRCm39)	Y547C	probably benign	Het
Pkhd1	A	T	1: 20,431,235 (GRCm39)	V2392D	probably damaging	Het
Ppp1r3g	A	T	13: 36,153,314 (GRCm39)	T245S	probably damaging	Het
Prkaa1	A	G	15: 5,206,567 (GRCm39)	N439S	possibly damaging	Het
Radil	A	G	5: 142,529,463 (GRCm39)	Y78H	probably damaging	Het
Ric8b	A	T	10: 84,837,731 (GRCm39)	M513L	possibly damaging	Het
Slc4a10	T	C	2: 62,117,260 (GRCm39)	S740P	probably damaging	Het
Slc5a12	T	C	2: 110,454,478 (GRCm39)		probably benign	Het
Smg1	G	A	7: 117,784,724 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,748,853 (GRCm39)	M1I	probably null	Het
Tmc5	A	T	7: 118,244,653 (GRCm39)		probably benign	Het
Tpp2	C	T	1: 44,038,850 (GRCm39)	A1132V	probably damaging	Het
Ttll4	A	T	1: 74,726,498 (GRCm39)	K699*	probably null	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
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
R0830:Hykk	UTSW	9	54,844,601 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18