Mutagenetix > Incidental Mutations

Incidental Mutation 'R6970:Tepsin'

542205

Institutional Source

Beutler Lab

Gene Symbol

Tepsin

Ensembl Gene

ENSMUSG00000025377

Gene Name

TEPSIN, adaptor related protein complex 4 accessory protein

Synonyms

2410002I01Rik, Enthd2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120090531-120098731 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120095364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 168 (T168M)

Ref Sequence

ENSEMBL: ENSMUSP00000101832 (fasta)

Gene Model

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

AlphaFold

Q3U3N6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026442
AA Change: T162M

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: T162M

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

possibly damaging
Transcript: ENSMUST00000093901
AA Change: T168M

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: T168M

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 damaging
Transcript: ENSMUST00000106225
AA Change: T168M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: T168M

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

probably benign
Transcript: ENSMUST00000185558

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nalcn	A	G	14: 123,314,094	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	probably damaging	Het

Other mutations in Tepsin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Tepsin	APN	11	120091721	missense	probably benign
IGL02559:Tepsin	APN	11	120096905	missense	probably benign	0.26
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTTGATGCCAGTGAGGTC -3'
(R):5'- GTAGCACCCTGTTCTCAGATGC -3'

Sequencing Primer
(F):5'- TGGCCCTGACCTCTACATGAG -3'
(R):5'- TTCTCAGATGCCGTGCCACAG -3'

Posted On

2018-11-28