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

Agphd1, C630028N24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02890

Quality Score

Status

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54920711 bp (GRCm38)

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
2900055J20Rik	A	G	18: 40,257,027		probably benign	Het
Adam39	A	T	8: 40,825,153	I194L	probably benign	Het
Akirin1	A	G	4: 123,738,062	V171A	probably damaging	Het
Camk2b	A	T	11: 6,001,340	D91E	possibly damaging	Het
Ccser1	A	G	6: 62,379,831	D751G	probably damaging	Het
D6Wsu163e	G	A	6: 126,974,487	G500D	probably damaging	Het
Dchs1	G	T	7: 105,756,491	D2395E	probably damaging	Het
Fam189b	A	T	3: 89,186,782	T223S	possibly damaging	Het
Fat3	T	C	9: 15,915,340	T4439A	probably benign	Het
Fn1	A	G	1: 71,598,372		probably null	Het
Galnt14	A	C	17: 73,509,524		probably null	Het
Gemin4	A	C	11: 76,211,264	S890R	probably damaging	Het
Glrp1	T	A	1: 88,509,788		probably null	Het
Grik1	A	G	16: 87,896,802		probably benign	Het
Hist1h2bm	G	T	13: 21,722,186	R30L	probably benign	Het
Hspa12a	C	T	19: 58,820,999		probably null	Het
Kctd13	G	A	7: 126,930,731	G115R	probably benign	Het
Ltn1	C	T	16: 87,409,297		probably null	Het
Mat2a	A	G	6: 72,436,246	L167P	probably damaging	Het
Myo6	A	G	9: 80,266,174	E532G	probably damaging	Het
Nrbp2	G	T	15: 76,089,457	L272M	probably damaging	Het
Nrd1	A	G	4: 109,053,919	D790G	possibly damaging	Het
Olfr1507	T	A	14: 52,490,911	T18S	probably benign	Het
Olfr180	T	C	16: 58,916,374	D89G	probably benign	Het
Olfr943	T	C	9: 39,184,268	L27P	probably damaging	Het
Pcdh10	A	T	3: 45,392,617	H949L	probably damaging	Het
Pikfyve	A	G	1: 65,230,797	Y547C	probably benign	Het
Pkhd1	A	T	1: 20,361,011	V2392D	probably damaging	Het
Ppp1r3g	A	T	13: 35,969,331	T245S	probably damaging	Het
Prkaa1	A	G	15: 5,177,086	N439S	possibly damaging	Het
Radil	A	G	5: 142,543,708	Y78H	probably damaging	Het
Ric8b	A	T	10: 85,001,867	M513L	possibly damaging	Het
Slc4a10	T	C	2: 62,286,916	S740P	probably damaging	Het
Slc5a12	T	C	2: 110,624,133		probably benign	Het
Smg1	G	A	7: 118,185,501		probably benign	Het
Spef2	C	T	15: 9,748,767	M1I	probably null	Het
Tmc5	A	T	7: 118,645,430		probably benign	Het
Tpp2	C	T	1: 43,999,690	A1132V	probably damaging	Het
Ttll4	A	T	1: 74,687,339	K699*	probably null	Het

Other mutations in Hykk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Hykk	APN	9	54920558	missense	possibly damaging	0.83
hike	UTSW	9	54946479	missense	probably benign	0.00
spatziergangen	UTSW	9	54920726	missense	possibly damaging	0.53
BB001:Hykk	UTSW	9	54922240	missense	probably damaging	1.00
BB011:Hykk	UTSW	9	54922240	missense	probably damaging	1.00
R0070:Hykk	UTSW	9	54922348	splice site	probably benign
R0734:Hykk	UTSW	9	54946432	missense	possibly damaging	0.93
R0830:Hykk	UTSW	9	54937317	missense	probably damaging	1.00
R1905:Hykk	UTSW	9	54946383	missense	probably benign
R2322:Hykk	UTSW	9	54946134	missense	probably benign	0.00
R4632:Hykk	UTSW	9	54946516	missense	probably benign	0.01
R4846:Hykk	UTSW	9	54920606	missense	probably damaging	1.00
R5088:Hykk	UTSW	9	54946479	missense	probably benign	0.00
R5410:Hykk	UTSW	9	54946066	missense	probably damaging	1.00
R6292:Hykk	UTSW	9	54920826	critical splice donor site	probably null
R6416:Hykk	UTSW	9	54946359	missense	probably benign	0.03
R6983:Hykk	UTSW	9	54946509	missense	probably benign	0.00
R7261:Hykk	UTSW	9	54920726	missense	possibly damaging	0.53
R7276:Hykk	UTSW	9	54946218	missense	probably damaging	1.00
R7924:Hykk	UTSW	9	54922240	missense	probably damaging	1.00
R8539:Hykk	UTSW	9	54937160	missense	probably benign	0.00
R9646:Hykk	UTSW	9	54946237	missense	probably benign	0.02
Z1177:Hykk	UTSW	9	54946429	missense	possibly damaging	0.94

Posted On

2015-12-18