Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Hykk'

16912

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

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

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 54922348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

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

AlphaFold

Q5U5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000039742

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878

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

1x: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 55,802,154	I387T	probably damaging	Het
Ankfn1	A	T	11: 89,392,302	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,447,452	E892G	probably benign	Het
AU018091	T	C	7: 3,158,898		probably null	Het
Capn12	T	C	7: 28,889,126		probably benign	Het
Capn2	C	A	1: 182,473,869		probably benign	Het
Cd79b	A	G	11: 106,311,918		probably benign	Het
Cdh7	C	T	1: 110,098,372	A446V	probably benign	Het
Ciapin1	T	C	8: 94,825,219	N246S	possibly damaging	Het
Fam126a	T	C	5: 23,964,999	S451G	probably damaging	Het
Flt3	A	G	5: 147,372,726		probably benign	Het
Gm2027	T	A	12: 44,222,362		probably benign	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Kansl1l	T	C	1: 66,801,103	D346G	probably damaging	Het
Kcnt1	T	C	2: 25,892,362	V191A	probably benign	Het
Lcorl	G	A	5: 45,733,701	R437C	probably damaging	Het
Mtch1	T	A	17: 29,340,059		probably benign	Het
Myo1c	A	G	11: 75,660,250	N217S	probably benign	Het
Nav2	A	G	7: 49,570,714	E1669G	probably damaging	Het
Olfr132	A	G	17: 38,130,889	L101P	probably damaging	Het
Olfr1362	T	C	13: 21,611,261	K236R	possibly damaging	Het
Olfr470	T	G	7: 107,844,917	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,639,991	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,756,918	D309A	probably damaging	Het
Pkd2	T	C	5: 104,466,990	C233R	probably damaging	Het
Prkd3	A	G	17: 78,954,510	Y792H	probably damaging	Het
Pxdn	T	C	12: 29,982,727	L146S	probably damaging	Het
Serpinh1	A	T	7: 99,349,314	S36R	probably damaging	Het
Setx	A	T	2: 29,161,525	T2030S	probably benign	Het
Sin3b	T	A	8: 72,725,582	H105Q	probably damaging	Het
Slx4	A	T	16: 3,988,016	D557E	possibly damaging	Het
Stag1	C	T	9: 100,956,408	P1238S	probably null	Het
Stra6	C	T	9: 58,152,615		probably benign	Het
Taok1	T	A	11: 77,553,717	M511L	probably benign	Het
Tmem127	T	C	2: 127,257,059	V171A	probably damaging	Het
Tmem147	T	C	7: 30,728,101	Y97C	probably damaging	Het
Tmem150a	A	G	6: 72,358,759		probably null	Het
Top2a	C	G	11: 99,015,060		probably null	Het
Zc3hav1l	A	T	6: 38,295,190	S215T	probably damaging	Het
Zscan20	C	T	4: 128,585,882	V939I	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
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

2013-01-20