Mutagenetix > Incidental Mutation

Incidental Mutation 'R0069:Xpnpep3'

16362

Institutional Source

Beutler Lab

Gene Symbol

Xpnpep3

Ensembl Gene

ENSMUSG00000022401

Gene Name

X-prolyl aminopeptidase 3, mitochondrial

Synonyms

E430012M05Rik

MMRRC Submission

038360-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0069 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81400138-81457482 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81430798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 233 (V233A)

Ref Sequence

ENSEMBL: ENSMUSP00000132822 (fasta)

Gene Model

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

AlphaFold

B7ZMP1

Predicted Effect

probably benign
Transcript: ENSMUST00000041609
AA Change: V233A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401
AA Change: V233A

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 benign
Transcript: ENSMUST00000163754
AA Change: V233A

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401
AA Change: V233A

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

Meta Mutation Damage Score

0.0914

Coding Region Coverage

1x: 86.4%
3x: 80.4%
10x: 57.4%
20x: 26.1%

Validation Efficiency

94% (60/64)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,561,562	C632S	probably damaging	Het
Ccnb1ip1	G	A	14: 81,519,382	Q322*	probably null	Het
Cd101	A	G	3: 101,008,217	V678A	probably benign	Het
Creb1	A	G	1: 64,576,208	I240V	possibly damaging	Het
Dctn2	A	T	10: 127,277,485		probably null	Het
Diablo	A	T	5: 123,518,024	S117R	probably damaging	Het
Ebf2	A	T	14: 67,410,050	R349S	probably damaging	Het
Gne	A	C	4: 44,060,099	V98G	probably damaging	Het
Ints3	A	G	3: 90,400,647		probably benign	Het
Itgal	A	G	7: 127,310,331	T56A	probably benign	Het
Lzts3	T	A	2: 130,636,540	T213S	probably benign	Het
Myo1d	A	G	11: 80,637,953	I681T	probably damaging	Het
Pde8a	T	C	7: 81,319,123		probably benign	Het
Pole2	A	T	12: 69,209,887	V288E	probably damaging	Het
Poteg	T	C	8: 27,447,821	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,567,770	M356L	probably benign	Het
Rad54l2	C	A	9: 106,710,365	V734L	possibly damaging	Het
Ryr1	A	C	7: 29,110,505		probably benign	Het
Slfn10-ps	A	G	11: 83,035,542		noncoding transcript	Het
Sult1e1	A	T	5: 87,579,897	H175Q	probably damaging	Het
Tcrg-V7	A	G	13: 19,178,422	R94G	probably benign	Het
Ube2e3	C	A	2: 78,919,949		probably benign	Het
Vps13d	A	G	4: 145,062,563	I746T	probably benign	Het
Zfp329	A	T	7: 12,810,932	S222T	probably damaging	Het
Zswim6	T	C	13: 107,738,563		noncoding transcript	Het

Other mutations in Xpnpep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Xpnpep3	APN	15	81436768	missense	possibly damaging	0.93
IGL01292:Xpnpep3	APN	15	81427498	missense	probably damaging	1.00
IGL02219:Xpnpep3	APN	15	81427456	missense	probably damaging	1.00
zebra	UTSW	15	81430842	missense	probably damaging	1.00
BB006:Xpnpep3	UTSW	15	81427425	missense	probably damaging	0.99
BB016:Xpnpep3	UTSW	15	81427425	missense	probably damaging	0.99
FR4449:Xpnpep3	UTSW	15	81427422	missense	possibly damaging	0.96
R0069:Xpnpep3	UTSW	15	81430798	missense	probably benign	0.18
R0304:Xpnpep3	UTSW	15	81430714	missense	probably damaging	1.00
R0518:Xpnpep3	UTSW	15	81427492	missense	possibly damaging	0.94
R0521:Xpnpep3	UTSW	15	81427492	missense	possibly damaging	0.94
R0639:Xpnpep3	UTSW	15	81430837	missense	probably benign	0.32
R0725:Xpnpep3	UTSW	15	81430842	missense	probably damaging	1.00
R1674:Xpnpep3	UTSW	15	81430767	missense	probably benign
R1840:Xpnpep3	UTSW	15	81427353	missense	probably benign	0.00
R2571:Xpnpep3	UTSW	15	81450926	missense	probably damaging	1.00
R3956:Xpnpep3	UTSW	15	81451029	splice site	probably benign
R4242:Xpnpep3	UTSW	15	81427656	missense	probably benign	0.05
R4997:Xpnpep3	UTSW	15	81448376	nonsense	probably null
R5635:Xpnpep3	UTSW	15	81436769	missense	probably benign	0.40
R5789:Xpnpep3	UTSW	15	81415864	intron	probably benign
R6190:Xpnpep3	UTSW	15	81438099	missense	probably benign	0.00
R7006:Xpnpep3	UTSW	15	81442448	missense	probably damaging	1.00
R7295:Xpnpep3	UTSW	15	81414534	missense	probably damaging	0.99
R7353:Xpnpep3	UTSW	15	81430887	missense	probably benign	0.42
R7929:Xpnpep3	UTSW	15	81427425	missense	probably damaging	0.99
R8139:Xpnpep3	UTSW	15	81448459	missense	probably damaging	1.00
R8434:Xpnpep3	UTSW	15	81427594	missense	possibly damaging	0.88
R8463:Xpnpep3	UTSW	15	81448471	missense	probably benign	0.00
Z1176:Xpnpep3	UTSW	15	81427432	missense	probably damaging	1.00

Posted On

2013-01-20