Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02219:Xpnpep3'

285028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpnpep3

Ensembl Gene

ENSMUSG00000022401

Gene Name

X-prolyl aminopeptidase 3, mitochondrial

Synonyms

E430012M05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02219

Quality Score

Status

Chromosome

Chromosomal Location

81284339-81341683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81311657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 121 (F121S)

Ref Sequence

ENSEMBL: ENSMUSP00000132822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000167799]

AlphaFold

B7ZMP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041609
AA Change: F121S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: F121S

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	366	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163296

Predicted Effect

probably damaging
Transcript: ENSMUST00000163754
AA Change: F121S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: F121S

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	481	1.1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164144

Predicted Effect

probably benign
Transcript: ENSMUST00000165258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167799

SMART Domains

Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	203	6.87e-50	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	A	T	1: 192,515,691 (GRCm39)		noncoding transcript	Het
Abcb10	G	A	8: 124,681,166 (GRCm39)	H677Y	probably benign	Het
Ager	T	C	17: 34,819,094 (GRCm39)	V314A	probably damaging	Het
Asxl3	A	G	18: 22,586,683 (GRCm39)	M158V	possibly damaging	Het
Atp1a2	G	A	1: 172,107,298 (GRCm39)	Q741*	probably null	Het
Atp1a2	A	T	1: 172,107,285 (GRCm39)	M745K	probably damaging	Het
Begain	A	G	12: 108,999,656 (GRCm39)	S577P	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Camk2b	A	G	11: 5,926,872 (GRCm39)	L497P	possibly damaging	Het
Cand2	T	A	6: 115,780,773 (GRCm39)	I1219N	probably damaging	Het
Cckbr	T	A	7: 105,083,255 (GRCm39)	Y153N	probably damaging	Het
Cep250	T	G	2: 155,833,514 (GRCm39)	V1812G	probably benign	Het
Cyp2c39	A	T	19: 39,556,643 (GRCm39)		probably benign	Het
Ddx43	T	A	9: 78,324,001 (GRCm39)	M444K	probably damaging	Het
Dnm1	A	T	2: 32,213,462 (GRCm39)	M506K	probably benign	Het
Duox2	A	T	2: 122,125,145 (GRCm39)	H352Q	probably benign	Het
Fcgbpl1	T	C	7: 27,854,060 (GRCm39)	Y1675H	probably damaging	Het
Fsip2	A	G	2: 82,808,174 (GRCm39)	T1498A	probably benign	Het
Gcn1	A	T	5: 115,751,826 (GRCm39)	Q2067L	possibly damaging	Het
Get4	G	T	5: 139,249,384 (GRCm39)		probably null	Het
Gm6370	G	A	5: 146,430,453 (GRCm39)	A213T	possibly damaging	Het
Gpr135	T	C	12: 72,117,047 (GRCm39)	Y240C	probably damaging	Het
Gstm5	T	A	3: 107,805,347 (GRCm39)	L145Q	probably damaging	Het
Hoxb3	T	C	11: 96,236,986 (GRCm39)	Y355H	probably damaging	Het
Hsf2	A	C	10: 57,372,370 (GRCm39)	K108Q	probably damaging	Het
Kdm3a	T	C	6: 71,577,718 (GRCm39)	N694S	probably benign	Het
Lrpap1	G	A	5: 35,253,411 (GRCm39)		probably benign	Het
Mapk8ip3	T	C	17: 25,118,532 (GRCm39)	T1162A	probably damaging	Het
Mettl14	T	C	3: 123,168,540 (GRCm39)		probably benign	Het
Mrgprx1	T	C	7: 47,671,477 (GRCm39)	Y90C	probably benign	Het
Mybpc3	A	T	2: 90,951,368 (GRCm39)		probably null	Het
Nup88	C	T	11: 70,860,518 (GRCm39)	G87D	probably benign	Het
Or5w20	A	G	2: 87,727,317 (GRCm39)	Y258C	possibly damaging	Het
Or7d9	A	T	9: 20,197,756 (GRCm39)	T254S	probably benign	Het
Or9i1	C	T	19: 13,839,187 (GRCm39)	T10M	probably damaging	Het
Pan2	G	A	10: 128,156,221 (GRCm39)	E1133K	probably benign	Het
Pcsk2	T	C	2: 143,635,045 (GRCm39)	S307P	probably damaging	Het
Pdgfa	C	T	5: 138,971,950 (GRCm39)	V150I	probably damaging	Het
Phf12	T	C	11: 77,875,022 (GRCm39)	C83R	probably damaging	Het
Pla2g2c	A	G	4: 138,463,319 (GRCm39)	Y71C	probably damaging	Het
Pou2f2	T	A	7: 24,797,107 (GRCm39)	Q218L	probably damaging	Het
Prl8a9	C	T	13: 27,743,353 (GRCm39)	V151I	possibly damaging	Het
Prop1	T	C	11: 50,842,911 (GRCm39)	D92G	probably damaging	Het
Rnf13	A	G	3: 57,703,644 (GRCm39)	Y116C	probably damaging	Het
Ro60	A	G	1: 143,637,013 (GRCm39)	C400R	possibly damaging	Het
Scrib	T	A	15: 75,936,885 (GRCm39)	K383*	probably null	Het
Slc44a5	T	C	3: 153,944,796 (GRCm39)	Y138H	possibly damaging	Het
Stra6	G	A	9: 58,047,752 (GRCm39)	V108M	probably benign	Het
Tspan10	G	T	11: 120,337,198 (GRCm39)	A323S	probably benign	Het
Ttc22	T	A	4: 106,495,687 (GRCm39)	V347D	probably damaging	Het
Ugt1a10	C	T	1: 87,983,780 (GRCm39)	L193F	probably benign	Het
Vps13d	G	T	4: 144,894,716 (GRCm39)	H457N	probably benign	Het
Vrtn	A	G	12: 84,695,607 (GRCm39)	Y119C	probably damaging	Het

Other mutations in Xpnpep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Xpnpep3	APN	15	81,320,969 (GRCm39)	missense	possibly damaging	0.93
IGL01292:Xpnpep3	APN	15	81,311,699 (GRCm39)	missense	probably damaging	1.00
zebra	UTSW	15	81,315,043 (GRCm39)	missense	probably damaging	1.00
BB006:Xpnpep3	UTSW	15	81,311,626 (GRCm39)	missense	probably damaging	0.99
BB016:Xpnpep3	UTSW	15	81,311,626 (GRCm39)	missense	probably damaging	0.99
FR4449:Xpnpep3	UTSW	15	81,311,623 (GRCm39)	missense	possibly damaging	0.96
R0069:Xpnpep3	UTSW	15	81,314,999 (GRCm39)	missense	probably benign	0.18
R0069:Xpnpep3	UTSW	15	81,314,999 (GRCm39)	missense	probably benign	0.18
R0304:Xpnpep3	UTSW	15	81,314,915 (GRCm39)	missense	probably damaging	1.00
R0518:Xpnpep3	UTSW	15	81,311,693 (GRCm39)	missense	possibly damaging	0.94
R0521:Xpnpep3	UTSW	15	81,311,693 (GRCm39)	missense	possibly damaging	0.94
R0639:Xpnpep3	UTSW	15	81,315,038 (GRCm39)	missense	probably benign	0.32
R0725:Xpnpep3	UTSW	15	81,315,043 (GRCm39)	missense	probably damaging	1.00
R1674:Xpnpep3	UTSW	15	81,314,968 (GRCm39)	missense	probably benign
R1840:Xpnpep3	UTSW	15	81,311,554 (GRCm39)	missense	probably benign	0.00
R2571:Xpnpep3	UTSW	15	81,335,127 (GRCm39)	missense	probably damaging	1.00
R3956:Xpnpep3	UTSW	15	81,335,230 (GRCm39)	splice site	probably benign
R4242:Xpnpep3	UTSW	15	81,311,857 (GRCm39)	missense	probably benign	0.05
R4997:Xpnpep3	UTSW	15	81,332,577 (GRCm39)	nonsense	probably null
R5635:Xpnpep3	UTSW	15	81,320,970 (GRCm39)	missense	probably benign	0.40
R5789:Xpnpep3	UTSW	15	81,300,065 (GRCm39)	intron	probably benign
R6190:Xpnpep3	UTSW	15	81,322,300 (GRCm39)	missense	probably benign	0.00
R7006:Xpnpep3	UTSW	15	81,326,649 (GRCm39)	missense	probably damaging	1.00
R7295:Xpnpep3	UTSW	15	81,298,735 (GRCm39)	missense	probably damaging	0.99
R7353:Xpnpep3	UTSW	15	81,315,088 (GRCm39)	missense	probably benign	0.42
R7929:Xpnpep3	UTSW	15	81,311,626 (GRCm39)	missense	probably damaging	0.99
R8139:Xpnpep3	UTSW	15	81,332,660 (GRCm39)	missense	probably damaging	1.00
R8434:Xpnpep3	UTSW	15	81,311,795 (GRCm39)	missense	possibly damaging	0.88
R8463:Xpnpep3	UTSW	15	81,332,672 (GRCm39)	missense	probably benign	0.00
Z1176:Xpnpep3	UTSW	15	81,311,633 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16