Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02611:Dpp8'

300476

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: 0.167) question?

Stock #

IGL02611

Quality Score

Status

Chromosome

Chromosomal Location

64939696-64989933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64963075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 443 (I443T)

Ref Sequence

ENSEMBL: ENSMUSP00000126065 (fasta)

Gene Model

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

AlphaFold

Q80YA7

Predicted Effect

probably benign
Transcript: ENSMUST00000034960
AA Change: I443T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: I443T

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 benign
Transcript: ENSMUST00000167773
AA Change: I443T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: I443T

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: ENSMUST00000214559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216309

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chac1	T	A	2: 119,183,934 (GRCm39)	Y179N	probably damaging	Het
Cyp2c37	T	G	19: 39,982,309 (GRCm39)	F103L	probably benign	Het
Dmp1	A	T	5: 104,360,380 (GRCm39)	D352V	probably damaging	Het
Furin	G	A	7: 80,041,526 (GRCm39)	A544V	probably benign	Het
Galntl6	A	G	8: 58,411,450 (GRCm39)	M260T	probably damaging	Het
Gm17654	G	A	14: 43,816,462 (GRCm39)	T47I	possibly damaging	Het
Hadha	A	G	5: 30,333,941 (GRCm39)		probably benign	Het
Itfg2	T	A	6: 128,401,688 (GRCm39)	N30I	probably damaging	Het
Kntc1	T	A	5: 123,950,128 (GRCm39)	L1977H	probably damaging	Het
Lats1	T	C	10: 7,581,551 (GRCm39)	F779L	possibly damaging	Het
Ltbp4	T	C	7: 27,010,080 (GRCm39)	Y1160C	probably damaging	Het
Mcm7	C	A	5: 138,165,701 (GRCm39)	S401I	probably damaging	Het
Or2ag1b	G	T	7: 106,287,996 (GRCm39)	T314K	probably benign	Het
Or52n20	A	T	7: 104,320,614 (GRCm39)	D235V	possibly damaging	Het
Pcdh8	C	T	14: 80,005,107 (GRCm39)	V876I	probably benign	Het
Pfpl	T	C	19: 12,407,647 (GRCm39)	S633P	probably benign	Het
Psg29	G	A	7: 16,942,716 (GRCm39)	R239Q	probably benign	Het
St18	T	A	1: 6,839,114 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,669,620 (GRCm39)	C87Y	possibly damaging	Het
Unc79	A	G	12: 103,131,967 (GRCm39)	T2300A	probably damaging	Het

Other mutations in Dpp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Dpp8	APN	9	64,985,290 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16