Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Hykk'

564627

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

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

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54920726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 83 (M83R)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

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

AlphaFold

Q5U5V2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039742
AA Change: M83R

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: M83R

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,368,700	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,759,824	I281R	probably damaging	Het
Adamts2	A	T	11: 50,786,597	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,667,435	T339I	probably benign	Het
Aff1	T	C	5: 103,828,379	S448P	probably damaging	Het
Agbl2	A	T	2: 90,788,944	S38C	possibly damaging	Het
Akap7	C	T	10: 25,271,518	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,880,366	F677L	probably benign	Het
Atf6b	G	T	17: 34,650,818	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,769,373	Y114C	probably damaging	Het
Casp7	T	A	19: 56,436,333	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 134,227,112		probably null	Het
Ccdc162	T	C	10: 41,561,140	T1758A	probably benign	Het
Cfap74	C	A	4: 155,465,374	P155T	unknown	Het
Champ1	A	G	8: 13,878,517	D225G	possibly damaging	Het
Chrng	A	T	1: 87,207,240		probably null	Het
Cnksr1	T	C	4: 134,235,773		probably null	Het
Col15a1	G	A	4: 47,269,088	G582D	probably benign	Het
Cwc25	A	G	11: 97,757,759	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,657,231	Y261H	probably damaging	Het
Defa29	A	G	8: 21,326,802		probably null	Het
Diaph3	A	C	14: 86,965,457	C666G	probably benign	Het
Dlx2	A	G	2: 71,544,675	Y282H	probably damaging	Het
Dsc3	A	T	18: 19,980,757	Y369*	probably null	Het
Dtwd1	A	G	2: 126,158,504	N120S	probably benign	Het
Dysf	G	A	6: 84,193,010	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,560,215	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418	I12N	probably benign	Het
Fam171a2	T	A	11: 102,438,074	N620Y	probably damaging	Het
Fam71a	T	C	1: 191,164,111	S112G	unknown	Het
Gfpt2	A	T	11: 49,823,251	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,862,410	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,568,699	C23G	probably damaging	Het
Gtpbp4	A	T	13: 8,987,918	H228Q	probably benign	Het
Hdac7	A	G	15: 97,806,534	V500A	probably benign	Het
Idi1	A	G	13: 8,886,895	I101V	probably benign	Het
Irs2	A	T	8: 11,007,018	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,905,306	V12A	probably benign	Het
Jak2	A	G	19: 29,310,985	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,354,517	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,481,297	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,587,465	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,677,514	S29*	probably null	Het
Lpcat3	T	A	6: 124,698,087	F57I	probably benign	Het
Manf	T	C	9: 106,891,889	T4A	probably benign	Het
Map2k3	G	A	11: 60,945,567		probably null	Het
Myh14	G	A	7: 44,624,337	Q1329*	probably null	Het
Myocd	T	C	11: 65,187,596	S458G	probably damaging	Het
Ncor2	T	C	5: 125,110,079		probably null	Het
Ndufs8	A	T	19: 3,911,606	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,664,140	K32R	unknown	Het
Nlrp3	T	G	11: 59,548,446	V283G	possibly damaging	Het
Nme3	A	G	17: 24,897,063		probably null	Het
Olfr937	C	T	9: 39,060,208	V153M	possibly damaging	Het
Olfr98	A	G	17: 37,263,185	F160L	probably benign	Het
Parvg	T	C	15: 84,331,096		probably null	Het
Peg10	T	A	6: 4,756,591	M389K	unknown	Het
Phf23	G	T	11: 69,999,265	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,374,411	Y929H	probably damaging	Het
Prss39	A	G	1: 34,500,288	D203G	probably damaging	Het
Prss54	G	T	8: 95,559,739	D235E	probably benign	Het
Prtg	T	A	9: 72,907,835	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,705,742	I160T	probably damaging	Het
Scn10a	C	A	9: 119,609,724	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,819,833	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,682,462	V768F	probably damaging	Het
Spag16	T	C	1: 70,299,621	I426T	possibly damaging	Het
Sspo	G	A	6: 48,450,077	V250M	possibly damaging	Het
Strbp	A	T	2: 37,641,137		probably null	Het
Sv2c	C	T	13: 96,088,301	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,670,487	S330L	not run	Het
Tigd2	T	A	6: 59,211,067	D306E	probably benign	Het
Tmem5	A	T	10: 122,088,917	D293E	probably benign	Het
Trrap	C	T	5: 144,845,477	P3278S	possibly damaging	Het
Ttc37	A	G	13: 76,113,579	T138A	probably benign	Het
Vdac1	A	T	11: 52,374,934	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,142	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,811,310	K615*	probably null	Het
Vps11	A	G	9: 44,354,503	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,952,979	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,436,655	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,609,345	D1576E	possibly 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
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'- AATGTCAAGTGGAGCTGGC -3'
(R):5'- GAACTTGTTTTAGACACTGCGCTTC -3'

Sequencing Primer
(F):5'- AAGCCTCTGCACTGGTAGAATCG -3'
(R):5'- AGACACTGCGCTTCTACCTGTAG -3'

Posted On

2019-06-26