Mutagenetix > Incidental Mutation

Incidental Mutation 'R9101:Phykpl'

720393

Institutional Source

Beutler Lab

Gene Symbol

Phykpl

Ensembl Gene

ENSMUSG00000020359

Gene Name

5-phosphohydroxy-L-lysine phospholyase

Synonyms

Agxt2l2, 2900006B13Rik

MMRRC Submission

068915-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

R9101 (G1)

Quality Score

121.008

Status

Validated

Chromosome

Chromosomal Location

51474751-51494091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51483741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 207 (T207K)

Ref Sequence

ENSEMBL: ENSMUSP00000098808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000101250] [ENSMUST00000167797]

AlphaFold

Q8R1K4

Predicted Effect

probably benign
Transcript: ENSMUST00000020625

SMART Domains

Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	27	433	2.1e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101250
AA Change: T207K

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
AA Change: T207K

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	33	212	8.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167797

SMART Domains

Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
Pfam:Aminotran_3	33	373	1.5e-75	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: This gene overlaps in a tail-to-tail orientation the gene encoding heterogeneous nuclear ribonucleoprotein A/B. The terminal exon of this gene is interspersed with exons of heterogeneous nuclear ribonucleoprotein A/B. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,455,376 (GRCm39)	V731A	probably benign	Het
Adamts7	T	C	9: 90,071,794 (GRCm39)		probably null	Het
Afdn	T	C	17: 14,043,706 (GRCm39)	V388A	probably damaging	Het
Alg3	A	G	16: 20,427,599 (GRCm39)	Y113H	possibly damaging	Het
Aox1	C	T	1: 58,371,796 (GRCm39)	P820L	probably benign	Het
Avil	A	G	10: 126,852,873 (GRCm39)	D731G	probably benign	Het
Blvra	C	T	2: 126,927,890 (GRCm39)	L47F	probably damaging	Het
Bmerb1	T	A	16: 13,867,259 (GRCm39)	I39N	probably damaging	Het
Ccdc85c	C	A	12: 108,240,917 (GRCm39)	R159L	unknown	Het
Clcn2	T	C	16: 20,525,979 (GRCm39)	D797G	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Dclre1a	A	T	19: 56,532,738 (GRCm39)	F619I	possibly damaging	Het
Dnajb1	C	A	8: 84,335,119 (GRCm39)	D53E	probably benign	Het
Dnmt1	T	C	9: 20,852,839 (GRCm39)	D89G	probably damaging	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gm9507	A	G	10: 77,647,650 (GRCm39)	S10P	unknown	Het
Hacd2	G	A	16: 34,920,156 (GRCm39)	V138I	probably benign	Het
Hhip	A	T	8: 80,770,591 (GRCm39)	V272D	probably damaging	Het
Hoga1	A	C	19: 42,048,347 (GRCm39)	T72P	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kif21b	G	A	1: 136,078,893 (GRCm39)	G414S	probably damaging	Het
Klk1b5	T	A	7: 43,500,205 (GRCm39)	D264E	probably benign	Het
Lars1	G	A	18: 42,376,942 (GRCm39)	R205C	probably damaging	Het
Ly6a	A	T	15: 74,869,419 (GRCm39)	L12Q	probably null	Het
Mastl	A	G	2: 23,008,449 (GRCm39)	*866Q	probably null	Het
Mpzl3	T	A	9: 44,981,983 (GRCm39)	M217K	possibly damaging	Het
Mroh2b	T	A	15: 4,929,935 (GRCm39)	M7K	probably benign	Het
Mtarc2	T	A	1: 184,554,687 (GRCm39)	R273W	probably null	Het
Nefh	A	G	11: 4,890,925 (GRCm39)	S565P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nsd1	C	T	13: 55,461,359 (GRCm39)	L2632F		Het
Or10d1	T	A	9: 39,483,805 (GRCm39)	Y250F	probably benign	Het
Or1a1b	C	T	11: 74,097,322 (GRCm39)	C240Y	probably damaging	Het
Or4a71	A	T	2: 89,358,721 (GRCm39)	I11N	possibly damaging	Het
Or51ac3	A	T	7: 103,213,680 (GRCm39)	F269I	possibly damaging	Het
Or51r1	T	C	7: 102,228,137 (GRCm39)	V145A	probably benign	Het
Or5m10b	A	G	2: 85,694,523 (GRCm39)		probably benign	Het
Or5w18	T	C	2: 87,632,924 (GRCm39)	Y60H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,393 (GRCm39)	V371A	possibly damaging	Het
Pdss2	A	G	10: 43,269,945 (GRCm39)	K263E	possibly damaging	Het
Phf3	C	T	1: 30,843,026 (GRCm39)	A1978T	possibly damaging	Het
Pkd2	T	A	5: 104,628,230 (GRCm39)	C435S	probably damaging	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel52-ps	G	A	5: 94,531,899 (GRCm39)	C261Y	probably damaging	Het
Prkra	T	A	2: 76,478,184 (GRCm39)	H6L	probably benign	Het
Prpf39	A	G	12: 65,090,078 (GRCm39)	K131E	probably damaging	Het
Prpf40a	A	G	2: 53,035,255 (GRCm39)	V762A	probably benign	Het
Prr27	C	T	5: 87,991,330 (GRCm39)	T314I	probably damaging	Het
Ptges3	A	G	10: 127,907,998 (GRCm39)	D116G	possibly damaging	Het
Rab11fip5	G	T	6: 85,317,675 (GRCm39)	F1071L	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc45a3	T	C	1: 131,905,175 (GRCm39)	V66A	possibly damaging	Het
Spata31e5	T	A	1: 28,815,740 (GRCm39)	D764V	probably benign	Het
Ten1	A	G	11: 116,096,562 (GRCm39)	Y72C	probably damaging	Het
Tenm3	A	G	8: 48,745,186 (GRCm39)	L1125S	probably damaging	Het
Thpo	T	A	16: 20,544,557 (GRCm39)	I159F	possibly damaging	Het
Tmppe	T	C	9: 114,234,309 (GRCm39)	S203P	probably damaging	Het
Ttc23l	A	T	15: 10,537,661 (GRCm39)	I203N	probably benign	Het
Vars2	A	G	17: 35,969,980 (GRCm39)	L803P	possibly damaging	Het
Vmn2r110	T	A	17: 20,794,471 (GRCm39)	I733F		Het
Xxylt1	T	C	16: 30,899,745 (GRCm39)	N137D	possibly damaging	Het
Zc3h13	G	A	14: 75,561,042 (GRCm39)	R544Q	unknown	Het
Zfhx4	C	T	3: 5,477,198 (GRCm39)	T3271I	probably benign	Het
Zfp943	T	A	17: 22,212,392 (GRCm39)	C493S	possibly damaging	Het

Other mutations in Phykpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Phykpl	APN	11	51,490,283 (GRCm39)	splice site	probably benign
IGL01809:Phykpl	APN	11	51,490,351 (GRCm39)	missense	probably benign	0.09
IGL02636:Phykpl	APN	11	51,489,540 (GRCm39)	missense	probably damaging	1.00
IGL02668:Phykpl	APN	11	51,484,514 (GRCm39)	critical splice donor site	probably null
R0114:Phykpl	UTSW	11	51,477,480 (GRCm39)	missense	probably benign	0.00
R0308:Phykpl	UTSW	11	51,484,423 (GRCm39)	splice site	probably benign
R0332:Phykpl	UTSW	11	51,477,502 (GRCm39)	missense	probably benign	0.30
R0831:Phykpl	UTSW	11	51,476,366 (GRCm39)	nonsense	probably null
R3434:Phykpl	UTSW	11	51,489,482 (GRCm39)	missense	probably benign
R4272:Phykpl	UTSW	11	51,476,355 (GRCm39)	missense	probably damaging	1.00
R4539:Phykpl	UTSW	11	51,484,915 (GRCm39)	missense	probably damaging	1.00
R4618:Phykpl	UTSW	11	51,483,056 (GRCm39)	missense	probably damaging	1.00
R4633:Phykpl	UTSW	11	51,484,435 (GRCm39)	missense	probably damaging	1.00
R4816:Phykpl	UTSW	11	51,483,780 (GRCm39)	missense	probably benign
R4823:Phykpl	UTSW	11	51,477,420 (GRCm39)	missense	probably damaging	0.99
R5415:Phykpl	UTSW	11	51,476,342 (GRCm39)	missense	probably benign	0.00
R5920:Phykpl	UTSW	11	51,493,622 (GRCm39)	missense	probably benign
R6370:Phykpl	UTSW	11	51,477,543 (GRCm39)	missense	probably damaging	1.00
R6611:Phykpl	UTSW	11	51,489,181 (GRCm39)	missense	probably damaging	1.00
R6617:Phykpl	UTSW	11	51,484,781 (GRCm39)	missense	probably damaging	1.00
R7319:Phykpl	UTSW	11	51,489,530 (GRCm39)	missense	probably benign	0.20
R7340:Phykpl	UTSW	11	51,490,370 (GRCm39)	missense	probably damaging	1.00
R7499:Phykpl	UTSW	11	51,482,285 (GRCm39)	missense	probably damaging	1.00
R7947:Phykpl	UTSW	11	51,477,408 (GRCm39)	missense	probably damaging	0.98
R8146:Phykpl	UTSW	11	51,476,408 (GRCm39)	missense	probably damaging	1.00
R8353:Phykpl	UTSW	11	51,489,121 (GRCm39)	missense	probably damaging	1.00
R8453:Phykpl	UTSW	11	51,489,121 (GRCm39)	missense	probably damaging	1.00
R9157:Phykpl	UTSW	11	51,490,375 (GRCm39)	missense	probably benign	0.10
R9295:Phykpl	UTSW	11	51,482,231 (GRCm39)	missense	possibly damaging	0.77
R9794:Phykpl	UTSW	11	51,489,212 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTTTGCAGGGTAGTCTAAG -3'
(R):5'- CATTGGACAGCTGATGGAATGG -3'

Sequencing Primer
(F):5'- CTTTGCAGGGTAGTCTAAGGGGAATC -3'
(R):5'- AGCTGATGGAATGGGAAATTGCTTC -3'

Posted On

2022-08-03