Mutagenetix > Incidental Mutation

Incidental Mutation 'R6851:Tepsin'

534979

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

044955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119981357-119989557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119987787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 44 (H44N)

Ref Sequence

ENSEMBL: ENSMUSP00000101832 (fasta)

Gene Model

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

AlphaFold

Q3U3N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026442
AA Change: H44N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026442
Gene: ENSMUSG00000025377
AA Change: H44N

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 damaging
Transcript: ENSMUST00000093901
AA Change: H44N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091428
Gene: ENSMUSG00000025377
AA Change: H44N

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: H44N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101832
Gene: ENSMUSG00000025377
AA Change: H44N

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

Meta Mutation Damage Score

0.0976

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,623,345 (GRCm39)	C856S	probably benign	Het
Arrdc2	T	C	8: 71,291,369 (GRCm39)	E153G	probably damaging	Het
Cacna1d	T	C	14: 29,764,739 (GRCm39)	D2033G	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cracr2a	A	T	6: 127,585,679 (GRCm39)	D159V	probably damaging	Het
Defa35	T	C	8: 21,555,146 (GRCm39)	I22T	possibly damaging	Het
Dgke	T	C	11: 88,943,309 (GRCm39)	T227A	probably benign	Het
Efcab3	G	A	11: 104,896,521 (GRCm39)	R4290K	probably benign	Het
Firrm	G	A	1: 163,792,336 (GRCm39)	R554C	probably damaging	Het
Galnt10	G	A	11: 57,656,458 (GRCm39)	R214Q	probably damaging	Het
Gpr180	T	C	14: 118,391,037 (GRCm39)	Y189H	probably damaging	Het
Hadh	A	G	3: 131,065,620 (GRCm39)	S13P	possibly damaging	Het
Hcn2	T	A	10: 79,564,947 (GRCm39)		probably null	Het
Irgm2	T	C	11: 58,110,641 (GRCm39)	S123P	possibly damaging	Het
Kcnv1	T	A	15: 44,972,594 (GRCm39)	I430F	probably damaging	Het
Kif13b	G	A	14: 65,010,514 (GRCm39)	C1271Y	probably damaging	Het
Klhdc3	A	T	17: 46,989,218 (GRCm39)	I48N	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mprip	T	A	11: 59,649,841 (GRCm39)	W1182R	probably damaging	Het
Mycbp2	A	T	14: 103,497,630 (GRCm39)		probably null	Het
Or12e1	T	A	2: 87,022,813 (GRCm39)	S261T	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or8b51	A	G	9: 38,569,481 (GRCm39)	V69A	probably benign	Het
Or8h9	T	C	2: 86,789,611 (GRCm39)	T64A	possibly damaging	Het
Or9m1b	T	A	2: 87,836,300 (GRCm39)	H265L	probably damaging	Het
Osbpl8	T	A	10: 111,106,479 (GRCm39)	Y295*	probably null	Het
Pex5	A	G	6: 124,380,113 (GRCm39)	S275P	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,881,521 (GRCm39)	G543C	probably damaging	Het
Serpina3k	A	C	12: 104,311,625 (GRCm39)	Y401S	probably benign	Het
Slc13a4	A	G	6: 35,278,668 (GRCm39)	S74P	probably damaging	Het
Spata31d1a	A	G	13: 59,851,725 (GRCm39)	L114P	unknown	Het
Syne1	G	T	10: 5,212,703 (GRCm39)	C3295*	probably null	Het
Tpp1	A	T	7: 105,398,919 (GRCm39)	V170E	probably damaging	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tsbp1	A	T	17: 34,679,146 (GRCm39)	Y303F	possibly damaging	Het
Ush2a	T	C	1: 188,265,402 (GRCm39)	V1642A	probably benign	Het
Vmn1r122	A	G	7: 20,867,845 (GRCm39)	I70T	probably benign	Het
Vmn2r96	A	G	17: 18,802,800 (GRCm39)	M237V	possibly damaging	Het
Wdr75	A	G	1: 45,862,587 (GRCm39)	E802G	probably benign	Het
Zan	G	A	5: 137,394,453 (GRCm39)	T4462I	unknown	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
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
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'- ACAGAGTCACAGAGTCACCG -3'
(R):5'- CACCCTAAAAGTTCCAGGGC -3'

Sequencing Primer
(F):5'- CTGGCTGAGAGTTGCTGC -3'
(R):5'- TCAGCCAGTAGATCCTTC -3'

Posted On

2018-09-12