Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Hykk'

501017

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

042979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54946066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 224 (C224Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034848] [ENSMUST00000039742] [ENSMUST00000054018] [ENSMUST00000172407]

AlphaFold

Q5U5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000034848

SMART Domains

Protein: ENSMUSP00000034848
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	216	1.5e-57	PFAM
low complexity region	238	261	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000039742
AA Change: C224Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: C224Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054018

SMART Domains

Protein: ENSMUSP00000049861
Gene: ENSMUSG00000044820

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171578

Predicted Effect

probably benign
Transcript: ENSMUST00000172407

SMART Domains

Protein: ENSMUSP00000126844
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	210	3.2e-56	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Ces1e	T	A	8: 93,210,442	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368		probably null	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	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
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

Predicted Primers

PCR Primer
(F):5'- CCATGCACATAAGACCCTGTG -3'
(R):5'- CACTTTCAAACCCTGCGAGG -3'

Sequencing Primer
(F):5'- GACCCTGTGTCTCCCCC -3'
(R):5'- CTTTCAAACCCTGCGAGGATGTG -3'

Posted On

2017-12-01