Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Phykpl'

35935

Institutional Source

Beutler Lab

Gene Symbol

Phykpl

Ensembl Gene

ENSMUSG00000020359

Gene Name

5-phosphohydroxy-L-lysine phospholyase

Synonyms

Agxt2l2, 2900006B13Rik

MMRRC Submission

038541-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

R0332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51474751-51494091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51477502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 98 (E98G)

Ref Sequence

ENSEMBL: ENSMUSP00000132190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020625] [ENSMUST00000101250] [ENSMUST00000102765] [ENSMUST00000167797]

AlphaFold

Q8R1K4

Predicted Effect

probably benign
Transcript: ENSMUST00000020625
AA Change: E98G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
AA Change: E98G

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: E98G

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

SMART Domains

Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
AA Change: E98G

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: ENSMUST00000102765

SMART Domains

Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
Pfam:Collagen	107	162	3.7e-10	PFAM
Pfam:Collagen	140	207	1.3e-9	PFAM
low complexity region	212	237	N/A	INTRINSIC
Pfam:Collagen	239	299	1.8e-11	PFAM
Pfam:Collagen	309	367	1.8e-10	PFAM
Pfam:Collagen	331	390	6.6e-11	PFAM
Pfam:Collagen	402	463	2.4e-11	PFAM
Pfam:Collagen	455	523	3.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164864

Predicted Effect

probably benign
Transcript: ENSMUST00000167797
AA Change: E98G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
AA Change: E98G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169823

Meta Mutation Damage Score

0.0682

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,340,187 (GRCm39)	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm10644	A	G	8: 84,660,210 (GRCm39)	L45S	possibly damaging	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Hspb8	T	A	5: 116,547,532 (GRCm39)	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,474,677 (GRCm39)	F86L	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,024,884 (GRCm39)	Q253H	probably benign	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably 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
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
R9101:Phykpl	UTSW	11	51,483,741 (GRCm39)	missense	probably benign	0.05
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'- AACTTCGTCTCCCCTGGATGGGTTTG -3'
(R):5'- GCTTCGGAAAAGGACACTGCCATAC -3'

Sequencing Primer
(F):5'- TAGAGCGGAGGGGGCATC -3'
(R):5'- CTGAGGAACCACTAGATGTTCTCTG -3'

Posted On

2013-05-09