Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Tmprss11g'

450121

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11g

Ensembl Gene

ENSMUSG00000079451

Gene Name

transmembrane protease, serine 11g

Synonyms

Desc4, 9930032O22Rik

MMRRC Submission

044053-MU

Accession Numbers

Essential gene?

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

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86485876-86518600 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86498533 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 58 (S58R)

Ref Sequence

ENSEMBL: ENSMUSP00000115540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134179] [ENSMUST00000140095]

AlphaFold

Q8BZ10

Predicted Effect

probably damaging
Transcript: ENSMUST00000134179
AA Change: S58R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: S58R

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:SEA	48	150	1.5e-25	PFAM
Tryp_SPc	185	411	1.39e-82	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140095
AA Change: S58R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: S58R

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:SEA	45	154	1.3e-19	PFAM
Tryp_SPc	172	398	1.39e-82	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,920,127	Y217*	probably null	Het
Abca2	A	T	2: 25,436,736	I567F	probably benign	Het
Acss2	T	A	2: 155,549,178		probably null	Het
Atxn7l2	C	A	3: 108,204,811	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,827,459	G400D	probably benign	Het
Ces5a	G	T	8: 93,525,667	A199D	probably damaging	Het
Chd2	A	T	7: 73,484,602		probably null	Het
Crebbp	A	G	16: 4,087,742	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,507,214	Q58L	probably benign	Het
Dlec1	T	A	9: 119,142,968	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,126,601	H593R	probably benign	Het
Ep300	T	A	15: 81,611,472	C412S	probably benign	Het
Fam110a	A	G	2: 151,970,041	S270P	probably damaging	Het
Gcc2	A	G	10: 58,294,821	T1412A	probably damaging	Het
Gm4788	T	A	1: 139,774,598		probably null	Het
Helz2	T	C	2: 181,232,656	E2015G	probably benign	Het
Hormad1	T	C	3: 95,562,559	V39A	probably damaging	Het
Igf2	G	T	7: 142,653,855	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,531,566	T223A	probably benign	Het
Itpr2	T	C	6: 146,144,149	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896	V886E	probably benign	Het
Klra1	T	C	6: 130,380,629	R12G	probably damaging	Het
Lamb1	A	G	12: 31,318,614	I1248V	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mapk7	C	T	11: 61,490,381	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,118,212	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Ninl	A	T	2: 150,940,724	I1182N	probably damaging	Het
Nup160	A	G	2: 90,679,770		probably null	Het
Nynrin	A	G	14: 55,864,226	R451G	probably benign	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr190	T	C	16: 59,074,661	I140V	probably benign	Het
Osbp	A	G	19: 11,970,721	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,768,503	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,762,236	V120I	probably benign	Het
Pdgfb	A	T	15: 79,997,668	V213E	probably benign	Het
Phldb2	T	C	16: 45,763,097	M1013V	probably benign	Het
Pnmal1	A	G	7: 16,961,095	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,183	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,955,375	M463V	possibly damaging	Het
Traf3	C	A	12: 111,255,361	Q319K	probably benign	Het
Trappc8	C	T	18: 20,873,920	V194M	probably damaging	Het
Tyw1	A	G	5: 130,268,088	K182R	probably damaging	Het
Usp48	A	G	4: 137,623,378	T585A	probably benign	Het
Xkr6	G	T	14: 63,819,032	V387L	probably benign	Het
Yod1	T	C	1: 130,719,006	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,228,674	S63G	probably null	Het
Zfp827	A	G	8: 79,179,016	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531	K411N	possibly damaging	Het

Other mutations in Tmprss11g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Tmprss11g	APN	5	86492191	missense	probably benign	0.00
IGL01611:Tmprss11g	APN	5	86490781	missense	probably benign	0.02
IGL02417:Tmprss11g	APN	5	86490891	missense	probably benign	0.25
IGL02677:Tmprss11g	APN	5	86492290	missense	probably benign
IGL02832:Tmprss11g	APN	5	86497269	missense	probably benign	0.23
IGL02887:Tmprss11g	APN	5	86497329	splice site	probably benign
R0377:Tmprss11g	UTSW	5	86490751	missense	probably damaging	0.98
R0847:Tmprss11g	UTSW	5	86490726	missense	probably benign	0.01
R1037:Tmprss11g	UTSW	5	86490747	missense	probably damaging	1.00
R1507:Tmprss11g	UTSW	5	86499611	missense	probably benign	0.09
R1617:Tmprss11g	UTSW	5	86499563	missense	probably damaging	0.99
R1955:Tmprss11g	UTSW	5	86498532	missense	probably damaging	0.99
R2094:Tmprss11g	UTSW	5	86499556	missense	probably damaging	1.00
R2906:Tmprss11g	UTSW	5	86492802	intron	probably benign
R4730:Tmprss11g	UTSW	5	86489232	nonsense	probably null
R4730:Tmprss11g	UTSW	5	86489233	missense	probably damaging	1.00
R4934:Tmprss11g	UTSW	5	86496542	missense	probably benign
R4982:Tmprss11g	UTSW	5	86492815	missense	probably damaging	1.00
R5086:Tmprss11g	UTSW	5	86496518	missense	possibly damaging	0.65
R5606:Tmprss11g	UTSW	5	86487410	missense	probably damaging	1.00
R6291:Tmprss11g	UTSW	5	86487422	missense	probably damaging	1.00
R6481:Tmprss11g	UTSW	5	86492156	missense	probably benign	0.20
R6849:Tmprss11g	UTSW	5	86496632	missense	probably benign	0.01
R6925:Tmprss11g	UTSW	5	86487426	missense	probably benign	0.09
R6925:Tmprss11g	UTSW	5	86487436	missense	probably benign	0.00
R7084:Tmprss11g	UTSW	5	86492200	missense	probably damaging	1.00
R7089:Tmprss11g	UTSW	5	86489291	missense	probably damaging	0.97
R7190:Tmprss11g	UTSW	5	86496632	missense	probably benign	0.18
R7352:Tmprss11g	UTSW	5	86496542	missense	not run
R7432:Tmprss11g	UTSW	5	86496507	missense	possibly damaging	0.71
R7514:Tmprss11g	UTSW	5	86497317	missense	probably damaging	1.00
R8198:Tmprss11g	UTSW	5	86498493	missense	probably benign
R8490:Tmprss11g	UTSW	5	86492117	critical splice donor site	probably null
R8495:Tmprss11g	UTSW	5	86492260	missense	probably benign	0.07
R8706:Tmprss11g	UTSW	5	86496545	missense	probably damaging	1.00
R8730:Tmprss11g	UTSW	5	86490978	critical splice acceptor site	probably null
R9158:Tmprss11g	UTSW	5	86489307	missense	probably damaging	1.00
R9224:Tmprss11g	UTSW	5	86492144	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCCAGAAGTTGATATCAAGC -3'
(R):5'- GATCCCGTGAGAACTAACCC -3'

Sequencing Primer
(F):5'- GCCAGAAGTTGATATCAAGCATCTGC -3'
(R):5'- CTGTTAGAGCATCCATGGCATTCAG -3'

Posted On

2016-12-20