Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Hykk'

387581

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54946479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 362 (I362V)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034848] [ENSMUST00000039742] [ENSMUST00000054018] [ENSMUST00000171900] [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 benign
Transcript: ENSMUST00000039742
AA Change: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: I362V

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: ENSMUST00000171900

SMART Domains

Protein: ENSMUSP00000132368
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	139	1.2e-33	PFAM

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,073	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480		probably null	Het
Abcc5	A	G	16: 20,376,662	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320		probably benign	Het
Arel1	A	G	12: 84,924,115	L642P	probably damaging	Het
Atrip	T	C	9: 109,059,896	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608		probably null	Het
Cacng5	C	G	11: 107,877,389	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662		probably benign	Het
Cdhr1	T	A	14: 37,089,465	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327		probably benign	Het
Cenpj	T	C	14: 56,553,691	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,179,535	V360D	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350	H198L	probably damaging	Het
Dnaic1	T	A	4: 41,597,630	S38T	probably benign	Het
Dnaic1	T	G	4: 41,632,251	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357	T188K	probably damaging	Het
Ergic2	A	G	6: 148,183,123	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920		probably benign	Het
Gins4	T	C	8: 23,237,068	E3G	possibly damaging	Het
Glis3	G	A	19: 28,531,579	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121	A445V	probably benign	Het
Il6st	G	A	13: 112,490,555	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144	I249N	possibly damaging	Het
Olfr1408	C	T	1: 173,131,039	M59I	probably damaging	Het
Olfr849	A	G	9: 19,441,771	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152		probably null	Het
Spata7	A	T	12: 98,669,502	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661	T1477A	probably benign	Het
Srl	C	A	16: 4,482,769	D375Y	probably damaging	Het
Stk4	A	T	2: 164,083,688	K58*	probably null	Het
Svep1	T	G	4: 58,120,648	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Zfp13	C	A	17: 23,577,061	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176	S546P	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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAGAGAGGCAGGCTTTG -3'
(R):5'- ACACAAGCTTTTCTAAGGTCACT -3'

Sequencing Primer
(F):5'- AGAGAGGCAGGCTTTGTTTTTAC -3'
(R):5'- GCAATTGACCTGCTTAGGGC -3'

Posted On

2016-06-06