Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Tepsin'

63346

Institutional Source

Beutler Lab

Gene Symbol

Tepsin

Ensembl Gene

ENSMUSG00000025377

Gene Name

TEPSIN, adaptor related protein complex 4 accessory protein

Synonyms

Enthd2, 2410002I01Rik

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0106 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

119981357-119989557 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119982637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136392 (fasta)

Gene Model

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

AlphaFold

Q3U3N6

Predicted Effect

probably benign
Transcript: ENSMUST00000026442
AA Change: N472D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: N472D

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: N478D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: N478D

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: ENSMUST00000106225
AA Change: N410D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: N410D

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000150094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152152

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,221,123 (GRCm39)	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,408,550 (GRCm39)	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,446,185 (GRCm39)	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cramp1	A	G	17: 25,191,350 (GRCm39)	V1037A	probably benign	Het
Cspg5	C	A	9: 110,075,600 (GRCm39)	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
Hsdl1	T	A	8: 120,292,517 (GRCm39)	S254C	probably damaging	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Kif14	T	C	1: 136,407,662 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lama3	T	C	18: 12,537,039 (GRCm39)	V228A	probably damaging	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Luzp1	A	G	4: 136,269,996 (GRCm39)	K740E	probably damaging	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Or8d6	GC	G	9: 39,854,119 (GRCm39)		probably null	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Plec	C	T	15: 76,060,518 (GRCm39)	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Scube2	A	G	7: 109,446,115 (GRCm39)		probably benign	Het
Serpinb10	T	A	1: 107,474,474 (GRCm39)	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Timmdc1	A	C	16: 38,342,724 (GRCm39)	L58R	probably damaging	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmem241	A	T	18: 12,239,066 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in Tepsin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02124:Tepsin	APN	11	119,982,547 (GRCm39)	missense	probably benign
IGL02559:Tepsin	APN	11	119,987,731 (GRCm39)	missense	probably benign	0.26
IGL02967:Tepsin	APN	11	119,984,954 (GRCm39)	missense	probably benign	0.00
IGL03352:Tepsin	APN	11	119,982,703 (GRCm39)	missense	probably benign	0.26
R0106:Tepsin	UTSW	11	119,982,637 (GRCm39)	splice site	probably null
R0403:Tepsin	UTSW	11	119,984,508 (GRCm39)	splice site	probably benign
R0722:Tepsin	UTSW	11	119,986,163 (GRCm39)	unclassified	probably benign
R1853:Tepsin	UTSW	11	119,989,462 (GRCm39)	missense	probably damaging	1.00
R3699:Tepsin	UTSW	11	119,982,579 (GRCm39)	missense	possibly damaging	0.84
R3700:Tepsin	UTSW	11	119,982,579 (GRCm39)	missense	possibly damaging	0.84
R4871:Tepsin	UTSW	11	119,982,351 (GRCm39)	missense	possibly damaging	0.53
R6619:Tepsin	UTSW	11	119,986,428 (GRCm39)	missense	probably benign	0.40
R6851:Tepsin	UTSW	11	119,987,787 (GRCm39)	missense	probably damaging	1.00
R6970:Tepsin	UTSW	11	119,986,190 (GRCm39)	missense	probably damaging	0.99
R7185:Tepsin	UTSW	11	119,984,643 (GRCm39)	missense	probably damaging	1.00
R7296:Tepsin	UTSW	11	119,982,534 (GRCm39)	missense	possibly damaging	0.87
R7947:Tepsin	UTSW	11	119,985,061 (GRCm39)	missense	probably benign	0.12
R8697:Tepsin	UTSW	11	119,988,354 (GRCm39)	nonsense	probably null
R8856:Tepsin	UTSW	11	119,982,654 (GRCm39)	missense	probably benign	0.00
R9496:Tepsin	UTSW	11	119,982,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAAAGCTGATGGCTCTGAAACC -3'
(R):5'- AGACATTTTGAAGCCTCCTGTGGAC -3'

Sequencing Primer
(F):5'- AAATCTGTCTGGAGGTCCTGC -3'
(R):5'- CTCCTGTGGACAACAGCTC -3'

Posted On

2013-07-30