Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Hykk'

565588

Institutional Source

Beutler Lab

Gene Symbol

Hykk

Ensembl Gene

ENSMUSG00000035878

Gene Name

hydroxylysine kinase 1

Synonyms

Agphd1, C630028N24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54917283-54949924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54946218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 275 (Y275H)

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 damaging
Transcript: ENSMUST00000039742
AA Change: Y275H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: Y275H

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

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

0.8484

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,968,578	V26A	unknown	Het
4930546C10Rik	C	T	18: 68,950,022	W40*	probably null	Het
Abcc5	T	C	16: 20,376,508		probably null	Het
Adamts18	T	A	8: 113,775,264	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,735,080	N406I	probably benign	Het
Arhgap35	T	G	7: 16,564,568	T191P	probably damaging	Het
Atg3	G	A	16: 45,162,442	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,897,710		probably null	Het
BC048562	A	G	9: 108,445,236	N60D	probably damaging	Het
Btnl9	T	A	11: 49,175,790	I335F	probably benign	Het
C7	A	T	15: 5,011,967	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,529,134	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,441,740	V562E	probably damaging	Het
Cript	T	A	17: 87,034,268	Y50*	probably null	Het
Dnah14	T	A	1: 181,685,807	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,838	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,865,321		probably null	Het
Ffar3	C	G	7: 30,855,848	V16L	possibly damaging	Het
Gcn1l1	C	T	5: 115,611,060	R1884W	probably damaging	Het
Gm13128	A	G	4: 144,332,646	E309G	possibly damaging	Het
Gpatch1	T	A	7: 35,297,496	M426L	probably benign	Het
Hcn2	T	A	10: 79,729,100	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,128,285	T32A	probably benign	Het
Igfn1	G	C	1: 135,998,638	P25A	possibly damaging	Het
Jph1	T	C	1: 17,092,042	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,624,422	D149E	probably damaging	Het
Knl1	A	T	2: 119,071,686	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,456,746	S3041L	unknown	Het
Mtus2	C	T	5: 148,076,558	R54C	probably benign	Het
Myo1d	A	T	11: 80,693,072	I38N	probably damaging	Het
Nasp	A	G	4: 116,614,349	S94P	probably damaging	Het
Nfat5	C	A	8: 107,367,099	N657K	probably benign	Het
Ngfr	A	G	11: 95,574,344	L226P	probably benign	Het
Nos1	T	C	5: 117,910,238	S703P	probably damaging	Het
Nsun7	A	G	5: 66,277,141	D275G	probably benign	Het
Oas1d	A	G	5: 120,916,881	N172S	possibly damaging	Het
Olfr1201	T	A	2: 88,794,681	F100I	probably damaging	Het
Olfr1390	T	A	11: 49,340,994	M154K	probably benign	Het
Olfr671	T	A	7: 104,975,650	M116L	possibly damaging	Het
Olfr749	A	G	14: 50,736,730	V144A	possibly damaging	Het
Papss1	A	G	3: 131,619,234	E484G	probably benign	Het
Pcdh15	A	G	10: 74,324,392	D447G	probably benign	Het
Phkg2	A	G	7: 127,582,386	E247G	possibly damaging	Het
Prelid2	T	C	18: 41,912,422	N141S	possibly damaging	Het
Psg18	T	C	7: 18,345,984	M431V	probably damaging	Het
Psmd12	A	T	11: 107,503,645	R397*	probably null	Het
Ralgds	G	A	2: 28,545,872	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,249,192	C945Y	probably benign	Het
Rgs12	A	G	5: 35,026,371	D1026G	probably benign	Het
Scn7a	G	A	2: 66,757,162	P66S	probably damaging	Het
Skiv2l2	A	T	13: 112,914,439	Y201N	probably benign	Het
Supt16	T	C	14: 52,177,001	E448G	probably benign	Het
Syt16	C	T	12: 74,266,709	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,689,347	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,217,020	W138*	probably null	Het
Tex101	T	C	7: 24,670,404	N45S	probably damaging	Het
Tmem2	A	G	19: 21,835,460	I1010V	probably benign	Het
Tmx1	C	A	12: 70,466,143	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,818,091	I1434L	probably damaging	Het
Trappc9	G	T	15: 73,052,270	H208N	probably damaging	Het
Trcg1	T	A	9: 57,242,579	L478Q	probably damaging	Het
Trim42	G	T	9: 97,369,572	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,290,960	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,524,881	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,173,779	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,606,432	D38G	probably damaging	Het
Vsig8	C	A	1: 172,563,283	C411*	probably null	Het
Vwce	A	T	19: 10,664,174	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782	S897G	probably damaging	Het
Zfp111	C	A	7: 24,199,553	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,450,280	H193N	probably damaging	Het
Zfp811	T	C	17: 32,798,781	E95G	probably benign	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
R7261:Hykk	UTSW	9	54920726	missense	possibly damaging	0.53
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'- ATGCACATAAGACCCTGTGTC -3'
(R):5'- TACAGCTGGCAGGAGTATGC -3'

Sequencing Primer
(F):5'- GATGGCTGTGCTTTTAAAAGAAAG -3'
(R):5'- CAGGAGTATGCAGCCATGAC -3'

Posted On

2019-06-26