Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Tepsin'

571644

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 #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120090531-120098731 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120091708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 512 (T512K)

Ref Sequence

ENSEMBL: ENSMUSP00000091428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026442] [ENSMUST00000093901] [ENSMUST00000106225] [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]

AlphaFold

Q3U3N6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026442
AA Change: T506K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: T506K

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: T512K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: T512K

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

possibly damaging
Transcript: ENSMUST00000106225
AA Change: T444K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: T444K

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: ENSMUST00000106227

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	344	N/A	INTRINSIC
low complexity region	395	409	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC
SCOP:d1jila_	672	756	2e-3	SMART
low complexity region	785	803	N/A	INTRINSIC
low complexity region	813	826	N/A	INTRINSIC
coiled coil region	874	1053	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106229

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	342	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	441	460	N/A	INTRINSIC
low complexity region	562	577	N/A	INTRINSIC
SCOP:d1jila_	673	757	2e-3	SMART
low complexity region	786	804	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
coiled coil region	875	1054	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180242

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	345	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	441	460	N/A	INTRINSIC
low complexity region	562	577	N/A	INTRINSIC
SCOP:d1jila_	673	757	2e-3	SMART
low complexity region	786	804	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
coiled coil region	875	1054	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,143	M226K	probably benign	Het
2010300C02Rik	T	C	1: 37,614,618	T1036A	possibly damaging	Het
4921524L21Rik	T	G	18: 6,626,385	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311	D1061N	probably benign	Het
Abcc9	G	A	6: 142,671,593	P582S	probably damaging	Het
Abhd5	G	A	9: 122,379,573	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215	T315I	probably damaging	Het
Arntl2	G	A	6: 146,822,134	V321I	not run	Het
Asic5	C	T	3: 82,021,076	P491S	probably benign	Het
Atp5b	T	C	10: 128,085,522	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042	I51N	probably damaging	Het
C4b	A	G	17: 34,743,659	L23S	probably damaging	Het
C77080	A	G	4: 129,225,418	Y170H	probably damaging	Het
Cables2	A	G	2: 180,260,336	V410A		Het
Cdyl	A	G	13: 35,863,395	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,827,986	M194V	probably benign	Het
Colec11	T	A	12: 28,594,715	D260V	probably damaging	Het
Cux2	T	C	5: 121,861,256	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516	L254*	probably null	Het
Fam129b	T	C	2: 32,922,642	S468P	possibly damaging	Het
Fam43b	A	G	4: 138,395,841	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075	W386L	probably benign	Het
Fgd6	T	A	10: 94,044,047	C254*	probably null	Het
Fgd6	C	A	10: 94,139,881	T1386K	probably benign	Het
Fkbp7	G	T	2: 76,671,764	D98E	possibly damaging	Het
Gm8251	T	A	1: 44,060,916	K341*	probably null	Het
Hectd1	C	T	12: 51,785,852	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394		probably null	Het
Kcnj5	A	C	9: 32,322,749	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224	Y2348*	probably null	Het
Nlrc3	T	C	16: 3,963,590	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr1129	T	A	2: 87,575,708	V208E	probably damaging	Het
Olfr1222	C	A	2: 89,124,836	R298S	probably benign	Het
Olfr527	A	T	7: 140,336,741	D293V	possibly damaging	Het
Pcna	A	G	2: 132,252,877	S54P	probably benign	Het
Pde6a	A	G	18: 61,258,293	T570A	probably damaging	Het
Phf21b	A	T	15: 84,855,717	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prob1	A	G	18: 35,653,299	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578		probably null	Het
Robo1	C	T	16: 72,989,631	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942		probably null	Het
Setd5	T	G	6: 113,147,557	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,458,739	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489	S113*	probably null	Het
Syne2	T	A	12: 76,103,036	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439	I38L	probably damaging	Het
Utp20	A	G	10: 88,770,724	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372		probably null	Het
Zmynd8	T	C	2: 165,840,009	T201A	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
R6970:Tepsin	UTSW	11	120095364	missense	probably damaging	0.99
R7185:Tepsin	UTSW	11	120093817	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGGGCCCAGAAAGTCACATG -3'
(R):5'- TGTGGACAACAGCTCCCTAC -3'

Sequencing Primer
(F):5'- GTTTAAAAATGCAAAAGCTGATGGC -3'
(R):5'- AGCCCAACTCTGCAGCTG -3'

Posted On

2019-09-13