Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Tepsin'

298616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tepsin

Ensembl Gene

ENSMUSG00000025377

Gene Name

TEPSIN, adaptor related protein complex 4 accessory protein

Synonyms

2410002I01Rik, Enthd2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

120090531-120098731 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120096905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 62 (D62E)

Ref Sequence

ENSEMBL: ENSMUSP00000101832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026442] [ENSMUST00000093901] [ENSMUST00000106223] [ENSMUST00000106225] [ENSMUST00000185558]

AlphaFold

Q3U3N6

Predicted Effect

probably benign
Transcript: ENSMUST00000026442
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: D62E

Domain	Start	End	E-Value	Type
Pfam:ENTH	20	116	8.8e-9	PFAM
low complexity region	131	143	N/A	INTRINSIC
low complexity region	254	287	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	512	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093901
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: D62E

Domain	Start	End	E-Value	Type
Pfam:ENTH	20	135	2.5e-10	PFAM
low complexity region	137	149	N/A	INTRINSIC
low complexity region	260	293	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	518	529	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106223

Predicted Effect

probably benign
Transcript: ENSMUST00000106225
AA Change: D62E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: D62E

Domain	Start	End	E-Value	Type
Pfam:ENTH	20	135	3.5e-11	PFAM
low complexity region	137	149	N/A	INTRINSIC
low complexity region	192	225	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
low complexity region	450	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152152

Predicted Effect

probably benign
Transcript: ENSMUST00000185558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186913

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,687,070	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,285,172	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,915,394		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col24a1	A	T	3: 145,314,173	I102F	probably benign	Het
Col7a1	C	T	9: 108,973,216	R2063C	unknown	Het
Ddo	T	A	10: 40,647,521	L169Q	probably damaging	Het
Defb4	G	T	8: 19,201,297	C60F	probably damaging	Het
Dock9	A	T	14: 121,625,147		probably benign	Het
Dysf	A	T	6: 84,067,446		probably benign	Het
Fasn	G	A	11: 120,809,066	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,722,164	D355G	probably benign	Het
Gak	C	T	5: 108,584,232	E797K	probably null	Het
Gm10654	T	C	8: 70,932,130		noncoding transcript	Het
Gnas	T	C	2: 174,341,936		probably benign	Het
Hdac3	A	G	18: 37,954,891	F8S	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Hrh4	T	C	18: 13,007,244		probably null	Het
Klhl1	A	G	14: 96,151,960	V586A	possibly damaging	Het
Lct	T	C	1: 128,294,266	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,447,740	N128K	probably benign	Het
Mndal	T	C	1: 173,872,920	T162A	probably benign	Het
Myh3	A	G	11: 67,101,095	E1822G	possibly damaging	Het
Mylpf	A	G	7: 127,214,143	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,159,953	A767T	probably benign	Het
Olfr1404	T	C	1: 173,216,521	V290A	probably damaging	Het
Olfr221	A	G	14: 52,036,007	Y35H	probably damaging	Het
Olfr666	T	A	7: 104,892,954	R225W	probably benign	Het
Paics	A	G	5: 76,964,604	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,848	Q1296K	probably benign	Het
Ppil2	T	C	16: 17,109,651	K26E	possibly damaging	Het
Rufy1	A	G	11: 50,420,483	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,749,305	E93V	probably damaging	Het
Slamf1	T	A	1: 171,767,258	I11K	possibly damaging	Het
Slc5a5	C	T	8: 70,890,271	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,921,788	V473D	probably benign	Het
Slit1	A	G	19: 41,721,085	V123A	probably benign	Het
Srgap2	A	C	1: 131,524,936		probably null	Het
Stk32c	T	C	7: 139,120,690	M208V	probably benign	Het
Syt15	T	C	14: 34,221,803	V103A	probably benign	Het
Tacc2	T	A	7: 130,759,267	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,724,654		probably benign	Het
Thap3	T	C	4: 151,983,687	D106G	probably benign	Het
Ttn	T	C	2: 76,786,217	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,639,590	N39S	possibly damaging	Het
Ubxn11	A	G	4: 134,124,943	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,052,180	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,592,186	T22A	probably damaging	Het

Other mutations in Tepsin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Tepsin	APN	11	120091721	missense	probably benign
IGL02967:Tepsin	APN	11	120094128	missense	probably benign	0.00
IGL03352:Tepsin	APN	11	120091877	missense	probably benign	0.26
R0106:Tepsin	UTSW	11	120091811	splice site	probably null
R0106:Tepsin	UTSW	11	120091811	splice site	probably null
R0403:Tepsin	UTSW	11	120093682	splice site	probably benign
R0722:Tepsin	UTSW	11	120095337	unclassified	probably benign
R1853:Tepsin	UTSW	11	120098636	missense	probably damaging	1.00
R3699:Tepsin	UTSW	11	120091753	missense	possibly damaging	0.84
R3700:Tepsin	UTSW	11	120091753	missense	possibly damaging	0.84
R4871:Tepsin	UTSW	11	120091525	missense	possibly damaging	0.53
R6619:Tepsin	UTSW	11	120095602	missense	probably benign	0.40
R6851:Tepsin	UTSW	11	120096961	missense	probably damaging	1.00
R6970:Tepsin	UTSW	11	120095364	missense	probably damaging	0.99
R7185:Tepsin	UTSW	11	120093817	missense	probably damaging	1.00
R7296:Tepsin	UTSW	11	120091708	missense	possibly damaging	0.87
R7947:Tepsin	UTSW	11	120094235	missense	probably benign	0.12
R8697:Tepsin	UTSW	11	120097528	nonsense	probably null
R8856:Tepsin	UTSW	11	120091828	missense	probably benign	0.00
R9496:Tepsin	UTSW	11	120091531	missense	probably damaging	1.00

Posted On

2015-04-16