Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02257:Tmprss11e'

286637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmprss11e

Ensembl Gene

ENSMUSG00000054537

Gene Name

transmembrane protease, serine 11e

Synonyms

DESC1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02257

Quality Score

Status

Chromosome

Chromosomal Location

86853045-86893666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86872039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 59 (T59I)

Ref Sequence

ENSEMBL: ENSMUSP00000124534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161306]

AlphaFold

Q5S248

Predicted Effect

probably damaging
Transcript: ENSMUST00000161306
AA Change: T59I

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

SMART Domains

Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: T59I

Domain	Start	End	E-Value	Type
Pfam:SEA	50	153	7.6e-24	PFAM
Tryp_SPc	191	417	1.58e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198859

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	C	T	11: 116,486,535 (GRCm39)	Q25*	probably null	Het
Adam8	A	T	7: 139,567,561 (GRCm39)	V394D	possibly damaging	Het
Ahnak2	A	G	12: 112,748,905 (GRCm39)	F314S	possibly damaging	Het
Arsg	T	C	11: 109,412,473 (GRCm39)		probably benign	Het
Atp13a2	T	G	4: 140,733,400 (GRCm39)	V958G	probably benign	Het
Ces5a	T	C	8: 94,252,226 (GRCm39)	D218G	probably benign	Het
Cntnap4	T	A	8: 113,343,126 (GRCm39)	L63Q	probably damaging	Het
Cped1	A	G	6: 22,145,606 (GRCm39)	T655A	possibly damaging	Het
Ddc	A	T	11: 11,823,171 (GRCm39)	L133*	probably null	Het
Fat4	C	T	3: 39,055,288 (GRCm39)	A4169V	probably benign	Het
Gnpat	T	C	8: 125,613,587 (GRCm39)		probably benign	Het
Gpd2	A	G	2: 57,254,536 (GRCm39)	D678G	probably benign	Het
Hk1	T	C	10: 62,107,422 (GRCm39)	D851G	probably benign	Het
Hsd11b2	G	A	8: 106,249,854 (GRCm39)	V322I	probably benign	Het
Hsd17b3	G	A	13: 64,207,276 (GRCm39)	T255M	probably benign	Het
Hsp90b1	T	C	10: 86,534,453 (GRCm39)	S284G	probably damaging	Het
Med1	T	A	11: 98,071,096 (GRCm39)	I69L	probably damaging	Het
Mmut	C	T	17: 41,249,625 (GRCm39)	T200I	possibly damaging	Het
Morn3	T	G	5: 123,175,788 (GRCm39)	D200A	probably damaging	Het
Mtss1	A	G	15: 58,828,394 (GRCm39)	V173A	probably damaging	Het
Myl6b	T	C	10: 128,333,210 (GRCm39)		probably benign	Het
Nin	A	G	12: 70,149,465 (GRCm39)	V48A	possibly damaging	Het
Odr4	A	T	1: 150,262,155 (GRCm39)	I95N	probably damaging	Het
Or10w1	G	A	19: 13,632,629 (GRCm39)	V279I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Phlpp2	T	A	8: 110,646,731 (GRCm39)	V529E	possibly damaging	Het
Pnlip	G	A	19: 58,662,306 (GRCm39)	V151I	probably benign	Het
Pus7	A	C	5: 23,967,459 (GRCm39)	H247Q	probably damaging	Het
Setd6	T	C	8: 96,443,320 (GRCm39)	Y188H	probably damaging	Het
Siglecg	T	C	7: 43,061,328 (GRCm39)	S444P	probably benign	Het
Sox9	C	A	11: 112,675,811 (GRCm39)	H333Q	possibly damaging	Het
Specc1	T	A	11: 62,009,243 (GRCm39)	I333N	probably damaging	Het
Vmn2r93	A	C	17: 18,545,770 (GRCm39)		probably benign	Het
Vrk2	A	T	11: 26,484,266 (GRCm39)	V163D	probably damaging	Het

Other mutations in Tmprss11e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:Tmprss11e	APN	5	86,867,593 (GRCm39)	missense	probably damaging	1.00
IGL02111:Tmprss11e	APN	5	86,867,660 (GRCm39)	missense	possibly damaging	0.86
R0610:Tmprss11e	UTSW	5	86,855,206 (GRCm39)	nonsense	probably null
R1402:Tmprss11e	UTSW	5	86,863,477 (GRCm39)	missense	probably damaging	0.99
R1402:Tmprss11e	UTSW	5	86,863,477 (GRCm39)	missense	probably damaging	0.99
R1528:Tmprss11e	UTSW	5	86,872,069 (GRCm39)	missense	probably damaging	1.00
R1555:Tmprss11e	UTSW	5	86,863,447 (GRCm39)	missense	probably damaging	1.00
R2157:Tmprss11e	UTSW	5	86,861,587 (GRCm39)	missense	probably benign
R2939:Tmprss11e	UTSW	5	86,869,266 (GRCm39)	missense	probably damaging	1.00
R3743:Tmprss11e	UTSW	5	86,857,315 (GRCm39)	nonsense	probably null
R4072:Tmprss11e	UTSW	5	86,863,502 (GRCm39)	missense	possibly damaging	0.53
R4073:Tmprss11e	UTSW	5	86,863,502 (GRCm39)	missense	possibly damaging	0.53
R4074:Tmprss11e	UTSW	5	86,863,502 (GRCm39)	missense	possibly damaging	0.53
R4650:Tmprss11e	UTSW	5	86,875,212 (GRCm39)	missense	probably damaging	1.00
R5371:Tmprss11e	UTSW	5	86,875,225 (GRCm39)	missense	probably benign	0.45
R5623:Tmprss11e	UTSW	5	86,857,315 (GRCm39)	nonsense	probably null
R6793:Tmprss11e	UTSW	5	86,863,414 (GRCm39)	missense	probably damaging	1.00
R7466:Tmprss11e	UTSW	5	86,857,339 (GRCm39)	missense	probably benign	0.00
R8790:Tmprss11e	UTSW	5	86,855,259 (GRCm39)	missense	probably benign	0.00
R8969:Tmprss11e	UTSW	5	86,861,758 (GRCm39)	missense	possibly damaging	0.91
R9571:Tmprss11e	UTSW	5	86,875,149 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16