Mutagenetix > Incidental Mutation

Incidental Mutation 'R1555:Tmprss11e'

170217

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11e

Ensembl Gene

ENSMUSG00000054537

Gene Name

transmembrane protease, serine 11e

Synonyms

DESC1

MMRRC Submission

039594-MU

Accession Numbers

Essential gene?

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

Stock #

R1555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86853045-86893666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86863447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 206 (Q206L)

Ref Sequence

ENSEMBL: ENSMUSP00000124534 (fasta)

Gene Model

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

AlphaFold

Q5S248

Predicted Effect

probably damaging
Transcript: ENSMUST00000161306
AA Change: Q206L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: Q206L

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

Meta Mutation Damage Score

0.5018

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,865,727 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,594,776 (GRCm39)	T358S	probably benign	Het
Ate1	A	T	7: 130,110,821 (GRCm39)	F169I	probably benign	Het
Cdkl4	T	A	17: 80,851,043 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,139,050 (GRCm39)		probably null	Het
Col6a4	C	T	9: 105,878,085 (GRCm39)	R1964Q	possibly damaging	Het
Dcakd	C	T	11: 102,891,039 (GRCm39)	V17I	probably damaging	Het
Dcdc5	T	G	2: 106,214,480 (GRCm39)		noncoding transcript	Het
Erc2	T	A	14: 27,733,622 (GRCm39)	D557E	probably damaging	Het
Grid2	A	T	6: 64,406,668 (GRCm39)	D676V	possibly damaging	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Igkv10-96	C	T	6: 68,609,365 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,844,893 (GRCm39)	N248K	probably damaging	Het
Myo5b	A	T	18: 74,702,853 (GRCm39)	I15F	probably damaging	Het
Neurl3	A	G	1: 36,305,613 (GRCm39)	V198A	probably benign	Het
Notch2	C	A	3: 98,038,656 (GRCm39)	N1266K	possibly damaging	Het
Nup107	A	G	10: 117,587,395 (GRCm39)		probably benign	Het
Or52e8b	T	C	7: 104,673,729 (GRCm39)	I153V	probably benign	Het
Or6d14	A	T	6: 116,533,787 (GRCm39)	I134F	probably damaging	Het
Phf3	G	T	1: 30,844,958 (GRCm39)	H1334N	possibly damaging	Het
Phyhd1	T	A	2: 30,164,718 (GRCm39)	I100N	probably damaging	Het
Rad21l	T	A	2: 151,500,348 (GRCm39)	T224S	probably benign	Het
Rxra	C	T	2: 27,638,690 (GRCm39)	A231V	probably benign	Het
Sac3d1	T	C	19: 6,168,435 (GRCm39)	D61G	probably damaging	Het
Sbf1	A	G	15: 89,189,279 (GRCm39)	Y481H	probably damaging	Het
Spg11	T	C	2: 121,927,858 (GRCm39)	E642G	probably damaging	Het
Spta1	A	G	1: 174,006,315 (GRCm39)	Y159C	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Tedc1	G	T	12: 113,120,117 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,782 (GRCm39)	D162E	probably damaging	Het
Tpra1	A	G	6: 88,887,185 (GRCm39)	N175S	probably damaging	Het
Ttll10	T	C	4: 156,119,596 (GRCm39)	E601G	probably benign	Het
Ttll6	G	T	11: 96,036,408 (GRCm39)	D346Y	probably damaging	Het
U2surp	A	G	9: 95,348,630 (GRCm39)	V874A	probably damaging	Het
Vwa5b1	T	C	4: 138,332,788 (GRCm39)	K258R	probably benign	Het
Xkr6	A	G	14: 64,056,374 (GRCm39)	Y95C	unknown	Het
Zfp180	T	C	7: 23,800,999 (GRCm39)		probably benign	Het
Zfp90	A	G	8: 107,150,727 (GRCm39)	T147A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGACACCCTTTCTCAAAACTCGTCAA -3'
(R):5'- ACTGACAAACACAGATGGAATGCCTT -3'

Sequencing Primer
(F):5'- CTTTCTCAAAACTCGTCAACTATTTC -3'
(R):5'- CACAGATGGAATGCCTTTCTTTG -3'

Posted On

2014-04-13