Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Tmprss11e'

280146

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 #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

86853045-86893666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86867660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 137 (I137F)

Ref Sequence

ENSEMBL: ENSMUSP00000124534 (fasta)

Gene Model

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

AlphaFold

Q5S248

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161306
AA Change: I137F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: I137F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Cpne7	T	C	8: 123,852,392 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	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
IGL02257:Tmprss11e	APN	5	86,872,039 (GRCm39)	missense	probably damaging	1.00
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