Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Hykk'

77496

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

Accession Numbers

Essential gene?

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

Stock #

R0830 (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 54937317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 222 (R222Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039980 (fasta)

Gene Model

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

AlphaFold

Q5U5V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000039742
AA Change: R222Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: R222Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,427	R145H	probably damaging	Het
2410089E03Rik	T	A	15: 8,247,185	V2771E	unknown	Het
Adam26a	C	T	8: 43,568,402	V684I	probably benign	Het
Alk	T	C	17: 72,603,200	I170M	probably benign	Het
Apc2	T	C	10: 80,315,405	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,474,254	T1219A	probably damaging	Het
Bnip1	T	C	17: 26,789,705	S94P	probably benign	Het
Cftr	A	G	6: 18,270,225	I805V	probably benign	Het
Col25a1	T	A	3: 130,584,726	D609E	probably damaging	Het
Cyp2g1	A	G	7: 26,814,791	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,613,757	T1098I	probably damaging	Het
Ddx39	T	A	8: 83,719,823	C74S	possibly damaging	Het
E2f3	C	T	13: 29,985,560	A37T	probably benign	Het
Emilin2	A	G	17: 71,273,820	M637T	probably benign	Het
Exosc7	T	C	9: 123,119,293	L93P	probably benign	Het
F2	T	C	2: 91,630,200	E316G	probably benign	Het
Fat4	A	C	3: 38,999,109	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,762,370	K160E	probably benign	Het
Foxi2	A	G	7: 135,411,730	T230A	probably benign	Het
Fthl17a	A	G	X: 85,270,073	N154S	possibly damaging	Het
Il18rap	T	A	1: 40,542,990	V357E	probably damaging	Het
Ing4	A	G	6: 125,043,960	E15G	probably damaging	Het
Irak1	T	C	X: 74,016,583	D679G	probably damaging	Het
Itga1	T	C	13: 115,007,032	E321G	probably benign	Het
Kdelc2	T	G	9: 53,390,711	L32R	probably damaging	Het
Nudt1	T	A	5: 140,335,321		probably null	Het
Nupl1	A	G	14: 60,243,482	F138S	probably damaging	Het
Olfr122	A	T	17: 37,771,913	M87L	probably damaging	Het
Olfr448	G	T	6: 42,896,598	W49L	probably benign	Het
Pllp	T	C	8: 94,679,475	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,997,255	V37A	probably damaging	Het
Psme4	A	G	11: 30,807,797	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Sash1	C	T	10: 8,729,909	V906M	probably benign	Het
Scn1a	A	T	2: 66,299,784	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,605,130	S160C	probably benign	Het
Tex29	T	C	8: 11,854,157	V99A	probably benign	Het
Tg	A	T	15: 66,725,144	N79I	probably damaging	Het
Tie1	T	C	4: 118,482,663	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,894,027	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,670,745	G202S	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
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

Predicted Primers

PCR Primer
(F):5'- TTTCATCGGGAGAACTTCATCTGGAATC -3'
(R):5'- GGTAACTCAGGGAGAGCGTCTACA -3'

Sequencing Primer
(F):5'- CATCTGGAATCTGAAAAATGTTCCTC -3'
(R):5'- gaggcagaggcaggcag -3'

Posted On

2013-10-16