Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Tmprss11e'

682929

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11e

Ensembl Gene

ENSMUSG00000054537

Gene Name

transmembrane protease, serine 11e

Synonyms

DESC1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86705186-86745815 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86713899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 263 (I263L)

Ref Sequence

ENSEMBL: ENSMUSP00000124534 (fasta)

Gene Model

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

AlphaFold

Q5S248

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161306
AA Change: I263L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124534
Gene: ENSMUSG00000054537
AA Change: I263L

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

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

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,277,944	N662K	probably benign	Het
Acp7	G	A	7: 28,607,957	R492W	probably damaging	Het
Adam33	C	T	2: 131,053,074	G688D	probably damaging	Het
Ak3	T	G	19: 29,047,694	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,570,808	T417A	probably benign	Het
Ambp	C	T	4: 63,154,091		probably benign	Het
Arhgef11	T	C	3: 87,725,642	S687P	probably damaging	Het
Ash1l	T	C	3: 88,966,291	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,387,834	A524T	probably benign	Het
Btbd10	A	T	7: 113,325,955	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,705,579	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,653	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522	D501E	probably benign	Het
Chrnb2	A	G	3: 89,757,225	F461L	probably damaging	Het
Clic1	T	C	17: 35,055,410		probably null	Het
Cmah	A	G	13: 24,422,653	Y89C	probably damaging	Het
Crkl	A	G	16: 17,469,054	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,112,820	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,547,794	Y142S	probably damaging	Het
Decr2	T	A	17: 26,087,381	M94L	probably benign	Het
Dspp	A	T	5: 104,177,774	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723	R1708G	probably damaging	Het
Eno3	T	A	11: 70,660,865	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,755,096	L386*	probably null	Het
Gm5114	C	A	7: 39,409,308	V296F	probably damaging	Het
Hc	A	G	2: 35,019,463		probably null	Het
Helz2	A	G	2: 181,237,788	V679A	probably benign	Het
Ifnar2	T	C	16: 91,404,172	F434L	probably benign	Het
Isl1	A	G	13: 116,303,321	S164P	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,660,088	Y621*	probably null	Het
Kif2b	T	C	11: 91,577,193	H88R	probably benign	Het
Kit	G	A	5: 75,639,062	V485I		Het
Klhl36	T	C	8: 119,870,148	L196P	probably damaging	Het
Klk1b27	T	A	7: 44,054,508	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,314,389	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,387,608	N242Y	probably damaging	Het
Krt36	T	A	11: 100,102,303	I449F	probably damaging	Het
Med27	G	T	2: 29,346,863	V7F	possibly damaging	Het
Mxd1	C	T	6: 86,651,484	V145M	probably benign	Het
Mylip	T	A	13: 45,391,344	F81L	probably damaging	Het
Nceh1	T	A	3: 27,222,736	F69L	probably null	Het
Ndufs3	A	T	2: 90,902,429	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,559,130	V46G	unknown	Het
Olfr1022	A	G	2: 85,869,488	N299D	probably benign	Het
Olfr1111	T	A	2: 87,150,584	M26L	probably benign	Het
Olfr33	T	C	7: 102,714,351	T21A	probably benign	Het
Olfr585	T	G	7: 103,098,044	I101S	probably damaging	Het
Palld	T	A	8: 61,684,849	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,490,779	L343R	probably damaging	Het
Pclo	T	A	5: 14,522,194	I531N	unknown	Het
Phip	T	C	9: 82,926,964		probably benign	Het
Phldb2	A	T	16: 45,772,133		probably null	Het
Ppp2r5e	G	T	12: 75,453,718	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,903,447	I97M	probably benign	Het
Ptpn21	T	A	12: 98,689,025	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079	H121Q	possibly damaging	Het
Rrnad1	G	A	3: 87,929,975		probably benign	Het
Sec1	A	G	7: 45,679,473	F50S	possibly damaging	Het
Sec62	A	G	3: 30,818,875	E369G	unknown	Het
Serpinb2	A	T	1: 107,524,660	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,384,826	T802P	probably benign	Het
Srd5a3	A	G	5: 76,153,646	R241G	probably benign	Het
Suox	T	C	10: 128,671,673	N162S	probably benign	Het
Tenm2	C	T	11: 36,051,861	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,011,738	D86G	probably damaging	Het
Tmc1	G	A	19: 20,816,229	R523C	probably damaging	Het
Tmtc4	T	C	14: 122,941,812		probably benign	Het
Tnfrsf22	T	A	7: 143,638,436	N171I	unknown	Het
Trpm3	A	G	19: 22,925,944	S1035G	probably damaging	Het
U2af1	C	T	17: 31,648,880	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,085,634	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,478,019	T154A	probably benign	Het
Xrn2	T	C	2: 147,029,384	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,428,665	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,725,280	S269L	probably benign	Het
Zfp735	T	A	11: 73,711,873	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,225,834		probably null	Het
Zranb3	A	T	1: 127,960,851	D832E	possibly damaging	Het

Other mutations in Tmprss11e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01737:Tmprss11e	APN	5	86719734	missense	probably damaging	1.00
IGL02111:Tmprss11e	APN	5	86719801	missense	possibly damaging	0.86
IGL02257:Tmprss11e	APN	5	86724180	missense	probably damaging	1.00
R0610:Tmprss11e	UTSW	5	86707347	nonsense	probably null
R1402:Tmprss11e	UTSW	5	86715618	missense	probably damaging	0.99
R1402:Tmprss11e	UTSW	5	86715618	missense	probably damaging	0.99
R1528:Tmprss11e	UTSW	5	86724210	missense	probably damaging	1.00
R1555:Tmprss11e	UTSW	5	86715588	missense	probably damaging	1.00
R2157:Tmprss11e	UTSW	5	86713728	missense	probably benign
R2939:Tmprss11e	UTSW	5	86721407	missense	probably damaging	1.00
R3743:Tmprss11e	UTSW	5	86709456	nonsense	probably null
R4072:Tmprss11e	UTSW	5	86715643	missense	possibly damaging	0.53
R4073:Tmprss11e	UTSW	5	86715643	missense	possibly damaging	0.53
R4074:Tmprss11e	UTSW	5	86715643	missense	possibly damaging	0.53
R4650:Tmprss11e	UTSW	5	86727353	missense	probably damaging	1.00
R5371:Tmprss11e	UTSW	5	86727366	missense	probably benign	0.45
R5623:Tmprss11e	UTSW	5	86709456	nonsense	probably null
R6793:Tmprss11e	UTSW	5	86715555	missense	probably damaging	1.00
R7466:Tmprss11e	UTSW	5	86709480	missense	probably benign	0.00
R8790:Tmprss11e	UTSW	5	86707400	missense	probably benign	0.00
R9571:Tmprss11e	UTSW	5	86727290	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCCAAATTAGATCAACGGG -3'
(R):5'- TTCTTATACGGCTACCTGCAG -3'

Sequencing Primer
(F):5'- ACCATCATTTTTCAATGCTCCAAATC -3'
(R):5'- GGCTACCTGCAGATAAAAATCATTC -3'

Posted On

2021-10-11