Mutagenetix > Incidental Mutation

Incidental Mutation 'R6983:Hykk'

542795

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: 0.103) question?

Stock #

R6983 (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 54946509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 372 (S372P)

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: S372P

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

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: S372P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	G	2: 111,228,250		probably null	Het
5730559C18Rik	A	G	1: 136,220,156	S353P	possibly damaging	Het
Abca15	T	C	7: 120,354,463	V530A	probably benign	Het
Adgrg6	T	C	10: 14,431,695	N816D	probably damaging	Het
Aebp2	T	C	6: 140,637,663	F288L	possibly damaging	Het
Afdn	T	C	17: 13,881,321	S1024P	probably damaging	Het
Akap6	A	C	12: 52,887,653	K643Q	probably damaging	Het
Atg2a	A	T	19: 6,260,040	D1751V	probably damaging	Het
Best2	T	A	8: 85,009,776	I253F	probably benign	Het
Bmp1	G	T	14: 70,508,207	P55T	probably damaging	Het
C1s1	C	A	6: 124,540,896	V42F	possibly damaging	Het
Ccdc115	A	G	1: 34,439,041		probably null	Het
Cdc42bpg	C	T	19: 6,321,668	P1326S	probably damaging	Het
Cdhr3	G	A	12: 33,042,380	T744I	probably benign	Het
Cit	T	G	5: 115,994,091	L1745R	probably damaging	Het
Commd6	A	T	14: 101,637,052	S39T	probably damaging	Het
Crot	T	G	5: 8,978,280	Y223S	probably benign	Het
Crybg1	G	T	10: 43,999,342	A590D	probably damaging	Het
Cwf19l2	G	A	9: 3,477,817	E841K	probably damaging	Het
Dennd4c	T	C	4: 86,799,493	Y576H	probably damaging	Het
Diaph1	A	T	18: 37,889,769	V749E	probably damaging	Het
Ell2	C	A	13: 75,761,887	L119M	probably damaging	Het
F5	A	T	1: 164,194,129	D1391V	probably damaging	Het
Foxf2	T	A	13: 31,627,197	M373K	probably benign	Het
Fstl1	A	T	16: 37,831,618	E287D	probably benign	Het
Gltpd2	T	C	11: 70,520,284	Y134H	probably damaging	Het
Hemgn	T	A	4: 46,395,997	H413L	possibly damaging	Het
Herc2	G	A	7: 56,106,453	R747H	possibly damaging	Het
Ints10	T	C	8: 68,794,051	V11A	probably damaging	Het
Khdrbs1	A	G	4: 129,720,842	V306A	probably benign	Het
Lamtor2	G	A	3: 88,552,839	Q9*	probably null	Het
Lonp2	T	A	8: 86,624,248	V22E	probably damaging	Het
Mad1l1	T	C	5: 140,193,984	E383G	probably damaging	Het
Man2b1	T	A	8: 85,091,071		probably null	Het
Mtch1	T	C	17: 29,338,776	I243V	probably damaging	Het
Myo18a	T	A	11: 77,845,515	M1546K	probably benign	Het
Ntf3	T	C	6: 126,101,845	T233A	probably damaging	Het
Olfr600	C	T	7: 103,346,815	V38I	probably benign	Het
Omg	T	C	11: 79,501,938	S365G	probably benign	Het
Otol1	T	A	3: 70,028,041	N455K	probably damaging	Het
Palm2	T	A	4: 57,709,973	V306D	probably damaging	Het
Pde4dip	A	T	3: 97,718,236	Y1349N	probably damaging	Het
Pitpnm2	A	G	5: 124,133,406	L368P	probably damaging	Het
Pnpla8	T	A	12: 44,283,247	I194K	possibly damaging	Het
Podn	T	C	4: 108,024,273		probably null	Het
Pramel6	A	T	2: 87,509,579	E229V	possibly damaging	Het
Ptpro	C	T	6: 137,449,917	P262L	probably damaging	Het
Rnf122	A	T	8: 31,118,460	T19S	probably benign	Het
Shank2	T	A	7: 144,081,848	Y320N	possibly damaging	Het
Slc2a9	A	C	5: 38,391,721	I243S	probably damaging	Het
Slc5a6	A	T	5: 31,040,405	M130K	probably benign	Het
Stx5a	A	G	19: 8,755,169		probably benign	Het
Tbr1	G	T	2: 61,811,735	G185V	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tg	A	G	15: 66,693,358	D1183G	probably benign	Het
Thbs1	A	T	2: 118,119,952	I689F	probably damaging	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Trub2	A	T	2: 29,787,784		probably benign	Het
Ttn	A	G	2: 76,766,962	V19869A	probably damaging	Het
Tufm	T	C	7: 126,489,435	V303A	possibly damaging	Het
Vezf1	T	C	11: 88,073,319	I99T	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,697	V19A	probably benign	Het
Xpc	C	T	6: 91,504,023	R289K	probably damaging	Het
Zfp811	T	A	17: 32,797,432	K545*	probably null	Het
Zmiz2	G	A	11: 6,402,413	D623N	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
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
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'- TTAGCCAGTCTCTCGTCATGG -3'
(R):5'- GGCCAACTGGGTTTTAATTAACAC -3'

Sequencing Primer
(F):5'- GTCATGGCTGCATACTCCTG -3'
(R):5'- TAAAGGAAGCCTGTCCCCAGTTAG -3'

Posted On

2018-11-28