Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00519:Dpp8'

6165

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpp8

Ensembl Gene

ENSMUSG00000032393

Gene Name

dipeptidylpeptidase 8

Synonyms

2310004I03Rik, 4932434F09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL00519

Quality Score

Status

Chromosome

Chromosomal Location

64939696-64989933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64985290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 783 (T783S)

Ref Sequence

ENSEMBL: ENSMUSP00000126065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034960] [ENSMUST00000167773] [ENSMUST00000217434]

AlphaFold

Q80YA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034960
AA Change: T783S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: T783S

Domain	Start	End	E-Value	Type
low complexity region	144	154	N/A	INTRINSIC
Pfam:DPPIV_N	168	589	1e-100	PFAM
Pfam:Peptidase_S15	636	830	7.3e-11	PFAM
Pfam:Abhydrolase_5	671	860	4.8e-9	PFAM
Pfam:Peptidase_S9	676	885	6.5e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167773
AA Change: T783S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: T783S

Domain	Start	End	E-Value	Type
low complexity region	144	154	N/A	INTRINSIC
Pfam:DPPIV_N	168	589	3.3e-102	PFAM
Pfam:Peptidase_S15	636	830	7.3e-11	PFAM
Pfam:Abhydrolase_5	670	860	6.5e-9	PFAM
Pfam:Peptidase_S9	677	885	8.6e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217328

Predicted Effect

probably benign
Transcript: ENSMUST00000217434

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,022,562 (GRCm39)	N309K	probably damaging	Het
Asap1	G	A	15: 63,982,791 (GRCm39)	P846S	probably damaging	Het
Atg10	A	G	13: 91,302,330 (GRCm39)		probably benign	Het
Cdk18	C	A	1: 132,043,226 (GRCm39)	R433L	probably benign	Het
Celsr1	A	G	15: 85,915,037 (GRCm39)	Y979H	probably damaging	Het
Cracr2b	T	C	7: 141,045,670 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,377,266 (GRCm39)	F2049L	probably benign	Het
Cubn	T	C	2: 13,287,730 (GRCm39)	N3450D	probably benign	Het
Dmrt1	T	C	19: 25,580,638 (GRCm39)	L350P	probably damaging	Het
Dnah5	A	T	15: 28,444,364 (GRCm39)	D4054V	probably benign	Het
Enpp3	T	C	10: 24,663,670 (GRCm39)	T564A	probably benign	Het
Exoc6b	T	C	6: 84,966,435 (GRCm39)	K180E	probably benign	Het
Faf1	T	A	4: 109,697,578 (GRCm39)	F301L	probably benign	Het
Fbxo7	A	T	10: 85,864,928 (GRCm39)	E77V	probably damaging	Het
Gabpa	T	G	16: 84,657,489 (GRCm39)	*455G	probably null	Het
Hexim2	A	T	11: 103,024,905 (GRCm39)	M1L	probably benign	Het
Lrrc24	T	A	15: 76,602,263 (GRCm39)	N164I	probably damaging	Het
Lrrc8b	G	A	5: 105,629,591 (GRCm39)	A646T	possibly damaging	Het
Mansc1	T	A	6: 134,587,769 (GRCm39)	Q136L	possibly damaging	Het
Mlxip	T	A	5: 123,585,268 (GRCm39)	V592E	probably benign	Het
Ncor2	T	C	5: 125,161,988 (GRCm39)	T429A	unknown	Het
Tbcd	A	G	11: 121,466,147 (GRCm39)	N591S	probably damaging	Het
Tenm4	T	C	7: 96,454,345 (GRCm39)		probably benign	Het
Uri1	A	G	7: 37,660,978 (GRCm39)	S522P	probably damaging	Het
Ush2a	C	T	1: 188,176,865 (GRCm39)	S1343L	probably benign	Het

Other mutations in Dpp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Dpp8	APN	9	64,951,111 (GRCm39)	missense	probably benign	0.32
IGL01303:Dpp8	APN	9	64,962,294 (GRCm39)	splice site	probably benign
IGL01506:Dpp8	APN	9	64,970,699 (GRCm39)	splice site	probably benign
IGL01544:Dpp8	APN	9	64,962,270 (GRCm39)	missense	probably benign	0.05
IGL02387:Dpp8	APN	9	64,952,998 (GRCm39)	missense	probably damaging	1.00
IGL02567:Dpp8	APN	9	64,986,058 (GRCm39)	nonsense	probably null
IGL02611:Dpp8	APN	9	64,963,075 (GRCm39)	missense	probably benign	0.15
IGL02723:Dpp8	APN	9	64,949,549 (GRCm39)	missense	possibly damaging	0.91
IGL02927:Dpp8	APN	9	64,967,551 (GRCm39)	missense	probably benign	0.09
IGL03116:Dpp8	APN	9	64,973,749 (GRCm39)	missense	probably damaging	0.96
IGL03135:Dpp8	APN	9	64,960,322 (GRCm39)	splice site	probably null
IGL03356:Dpp8	APN	9	64,953,069 (GRCm39)	missense	probably benign	0.00
almaviva	UTSW	9	64,983,085 (GRCm39)	missense	probably damaging	1.00
bartolo	UTSW	9	64,986,000 (GRCm39)	missense	probably damaging	1.00
Cherubino	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
rosina	UTSW	9	64,983,066 (GRCm39)	missense	possibly damaging	0.88
IGL03050:Dpp8	UTSW	9	64,962,118 (GRCm39)	missense	probably benign	0.00
R0498:Dpp8	UTSW	9	64,953,077 (GRCm39)	splice site	probably benign
R0594:Dpp8	UTSW	9	64,944,280 (GRCm39)	missense	probably damaging	1.00
R0675:Dpp8	UTSW	9	64,973,784 (GRCm39)	splice site	probably benign
R0699:Dpp8	UTSW	9	64,962,176 (GRCm39)	missense	probably benign	0.01
R0831:Dpp8	UTSW	9	64,985,961 (GRCm39)	missense	possibly damaging	0.56
R1148:Dpp8	UTSW	9	64,961,114 (GRCm39)	critical splice donor site	probably null
R1148:Dpp8	UTSW	9	64,961,114 (GRCm39)	critical splice donor site	probably null
R1512:Dpp8	UTSW	9	64,971,096 (GRCm39)	splice site	probably benign
R1515:Dpp8	UTSW	9	64,986,030 (GRCm39)	missense	probably benign	0.04
R1546:Dpp8	UTSW	9	64,970,775 (GRCm39)	missense	possibly damaging	0.76
R1556:Dpp8	UTSW	9	64,958,761 (GRCm39)	missense	probably damaging	1.00
R2027:Dpp8	UTSW	9	64,986,056 (GRCm39)	missense	probably damaging	1.00
R2104:Dpp8	UTSW	9	64,981,849 (GRCm39)	splice site	probably null
R2113:Dpp8	UTSW	9	64,971,150 (GRCm39)	missense	probably benign	0.00
R2656:Dpp8	UTSW	9	64,988,086 (GRCm39)	missense	probably damaging	1.00
R4237:Dpp8	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
R4238:Dpp8	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
R4239:Dpp8	UTSW	9	64,962,205 (GRCm39)	missense	probably benign
R4595:Dpp8	UTSW	9	64,983,085 (GRCm39)	missense	probably damaging	1.00
R4614:Dpp8	UTSW	9	64,973,678 (GRCm39)	missense	probably benign	0.00
R4946:Dpp8	UTSW	9	64,963,200 (GRCm39)	missense	probably benign	0.00
R5338:Dpp8	UTSW	9	64,971,206 (GRCm39)	nonsense	probably null
R5378:Dpp8	UTSW	9	64,985,296 (GRCm39)	missense	probably damaging	1.00
R5506:Dpp8	UTSW	9	64,985,391 (GRCm39)	splice site	probably null
R5644:Dpp8	UTSW	9	64,953,017 (GRCm39)	nonsense	probably null
R5862:Dpp8	UTSW	9	64,953,004 (GRCm39)	missense	probably benign	0.03
R6437:Dpp8	UTSW	9	64,981,860 (GRCm39)	missense	probably benign	0.01
R6783:Dpp8	UTSW	9	64,970,844 (GRCm39)	missense	possibly damaging	0.76
R6863:Dpp8	UTSW	9	64,942,290 (GRCm39)	missense	probably damaging	0.98
R7192:Dpp8	UTSW	9	64,953,068 (GRCm39)	missense	possibly damaging	0.70
R7461:Dpp8	UTSW	9	64,960,402 (GRCm39)	missense	possibly damaging	0.86
R7514:Dpp8	UTSW	9	64,986,036 (GRCm39)	missense	probably damaging	1.00
R7548:Dpp8	UTSW	9	64,944,517 (GRCm39)	missense	probably damaging	1.00
R7584:Dpp8	UTSW	9	64,986,064 (GRCm39)	missense	probably damaging	0.98
R7605:Dpp8	UTSW	9	64,962,240 (GRCm39)	missense	probably benign	0.33
R7613:Dpp8	UTSW	9	64,960,402 (GRCm39)	missense	possibly damaging	0.86
R7665:Dpp8	UTSW	9	64,986,000 (GRCm39)	missense	probably damaging	1.00
R7698:Dpp8	UTSW	9	64,949,618 (GRCm39)	missense	probably benign	0.00
R7844:Dpp8	UTSW	9	64,952,949 (GRCm39)	missense	probably damaging	0.99
R7935:Dpp8	UTSW	9	64,944,262 (GRCm39)	missense	possibly damaging	0.82
R8079:Dpp8	UTSW	9	64,951,017 (GRCm39)	missense	probably damaging	1.00
R8121:Dpp8	UTSW	9	64,985,362 (GRCm39)	missense	probably benign	0.10
R8315:Dpp8	UTSW	9	64,988,133 (GRCm39)	makesense	probably null
R8419:Dpp8	UTSW	9	64,988,037 (GRCm39)	missense	probably benign	0.34
R8516:Dpp8	UTSW	9	64,985,291 (GRCm39)	missense	probably damaging	1.00
R8524:Dpp8	UTSW	9	64,950,989 (GRCm39)	missense	probably damaging	1.00
R8896:Dpp8	UTSW	9	64,985,318 (GRCm39)	missense	possibly damaging	0.88
R8922:Dpp8	UTSW	9	64,981,793 (GRCm39)	missense	probably benign	0.02
R8935:Dpp8	UTSW	9	64,983,066 (GRCm39)	missense	possibly damaging	0.88
R9463:Dpp8	UTSW	9	64,973,700 (GRCm39)	nonsense	probably null
R9518:Dpp8	UTSW	9	64,981,866 (GRCm39)	missense	possibly damaging	0.90
R9732:Dpp8	UTSW	9	64,970,862 (GRCm39)	critical splice donor site	probably null
R9751:Dpp8	UTSW	9	64,960,453 (GRCm39)	missense	probably null	0.65
Z1177:Dpp8	UTSW	9	64,973,767 (GRCm39)	missense	probably damaging	1.00
Z1177:Dpp8	UTSW	9	64,971,148 (GRCm39)	frame shift	probably null

Posted On

2012-04-20