Mutagenetix > Incidental Mutations

Incidental Mutation 'R8539:Hykk'

659337

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54937160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 170 (S170G)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

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

AlphaFold

Q5U5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000039742
AA Change: S170G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: S170G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	A	13: 4,434,475		probably null	Het
Amz1	T	C	5: 140,748,657	L215S	probably benign	Het
Aplnr	A	G	2: 85,136,907	D92G	probably benign	Het
Arpc5	A	G	1: 152,766,801	D26G	probably damaging	Het
Cntrob	G	A	11: 69,320,826	R191C	possibly damaging	Het
Ephb4	A	G	5: 137,357,855	D242G	probably damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Galnt13	A	T	2: 54,933,572		probably null	Het
Hcrt	T	A	11: 100,761,225		probably benign	Het
Hnf1a	A	G	5: 114,970,517		probably null	Het
Igf1r	C	A	7: 68,003,848	Q45K	probably benign	Het
Klhl8	C	T	5: 103,867,526	V511I	probably damaging	Het
Loxl3	A	T	6: 83,049,526	M488L	probably benign	Het
Myo7a	G	A	7: 98,072,461	P1221S	probably damaging	Het
Myom2	A	T	8: 15,114,254	I1050F	probably benign	Het
Ncapd3	T	G	9: 27,048,224	C319G	probably benign	Het
Ndufaf5	C	A	2: 140,183,974	T151K	possibly damaging	Het
Notch3	A	T	17: 32,156,355	D364E	possibly damaging	Het
Nudt21	G	A	8: 94,036,973		probably benign	Het
Olfr1370	T	C	13: 21,073,173	I43V	probably benign	Het
Pkd1l3	T	A	8: 109,636,287	V1060E	probably damaging	Het
Plxnd1	G	C	6: 115,962,807	P1404A	possibly damaging	Het
Ret	A	G	6: 118,175,809	V523A	possibly damaging	Het
Ror1	T	C	4: 100,441,887	I819T	possibly damaging	Het
Scn10a	T	A	9: 119,638,774	K767*	probably null	Het
Sema5a	T	A	15: 32,618,843	W506R	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Sult1b1	C	A	5: 87,533,979	V67F	possibly damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tap1	C	T	17: 34,189,435	A216V	probably benign	Het
Tlr3	A	G	8: 45,398,516	L448P	probably damaging	Het
Tnik	G	A	3: 28,542,003	V182M	probably damaging	Het
Ttn	A	G	2: 76,906,434	F4329L	probably benign	Het
Usp21	C	T	1: 171,283,673	E396K	probably damaging	Het
Vmn1r122	A	T	7: 21,133,356	I258N	possibly damaging	Het
Vmn2r106	C	A	17: 20,279,009	R213S	probably benign	Het
Vmn2r111	A	T	17: 22,571,293	M244K	probably benign	Het
Zeb1	T	A	18: 5,748,784	V117D	probably damaging	Het

Other mutations in Hykk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02005:Hykk	APN	9	54920558	missense	possibly damaging	0.83
IGL02890:Hykk	APN	9	54920711	missense	probably benign	0.04
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
Z1177:Hykk	UTSW	9	54946429	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGATGCACTGGTGAAAATGTATG -3'
(R):5'- GAAACACACATACGTTGATTGGG -3'

Sequencing Primer
(F):5'- GGTAGGCCCAGACTCACTATTTAG -3'
(R):5'- GATTGGGAAAATACTCACATTCTCG -3'

Posted On

2021-01-18