Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Tmprss11g'

30796

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11g

Ensembl Gene

ENSMUSG00000079451

Gene Name

transmembrane protease, serine 11g

Synonyms

Desc4, 9930032O22Rik

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86485876-86518600 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86490751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 293 (F293I)

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: F306I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: F306I

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: F293I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: F293I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199703

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,375,096	V107F	possibly damaging	Het
Acad11	T	A	9: 104,081,692		probably benign	Het
Ache	G	A	5: 137,290,928	E299K	possibly damaging	Het
Adam5	T	C	8: 24,747,541	T618A	probably benign	Het
Amigo2	T	A	15: 97,246,380	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,641,340		probably null	Het
Armc4	G	A	18: 7,127,415	R933C	probably benign	Het
Btaf1	A	G	19: 36,989,002	K1057E	probably benign	Het
Cep55	T	A	19: 38,071,889	L396*	probably null	Het
Cic	C	A	7: 25,285,799	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,292,529	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,604,567	C1319S	probably benign	Het
Dnah6	A	G	6: 73,121,992	S2027P	possibly damaging	Het
Dntt	G	A	19: 41,047,627	W369*	probably null	Het
Esp18	T	A	17: 39,409,944	W27R	probably benign	Het
Fam227b	A	T	2: 126,125,000		probably benign	Het
Fbxo31	G	A	8: 121,559,102		probably benign	Het
Gm13547	G	A	2: 29,761,791		probably null	Het
Gnl2	T	A	4: 125,046,382		probably benign	Het
Gpx2	G	A	12: 76,795,156	Q74*	probably null	Het
Gucy2c	A	G	6: 136,750,917		probably null	Het
Hoxa5	A	T	6: 52,202,646	W250R	probably damaging	Het
Izumo4	G	A	10: 80,702,840	R42H	probably damaging	Het
Kcnj12	G	A	11: 61,069,396	M71I	probably benign	Het
Kmt2b	A	T	7: 30,574,193	L2333Q	probably damaging	Het
Mak	T	C	13: 41,049,348	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731	I218N	probably damaging	Het
Mark3	T	C	12: 111,629,029	L393P	probably damaging	Het
Msh4	A	G	3: 153,896,890	S234P	probably benign	Het
Mug1	A	G	6: 121,857,361	D367G	probably benign	Het
Mypn	A	G	10: 63,127,622		probably benign	Het
Ncapg	T	C	5: 45,693,817	V784A	probably benign	Het
Nutf2	T	A	8: 105,878,872	V113D	probably damaging	Het
Olfr1080	A	T	2: 86,553,583	D180E	probably damaging	Het
Opn3	T	C	1: 175,663,694	M258V	probably damaging	Het
Osbpl7	A	G	11: 97,055,934	D211G	probably damaging	Het
Pcnx	C	T	12: 81,974,579		probably benign	Het
Plekhd1	G	A	12: 80,706,436		probably benign	Het
Pnpla6	A	G	8: 3,541,501	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,662,317	D66E	probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,388,132	S885R	possibly damaging	Het
Rab26	A	T	17: 24,530,045		probably benign	Het
Rab5a	G	A	17: 53,500,462	M175I	probably benign	Het
Rassf9	T	A	10: 102,545,649	D297E	probably benign	Het
Rimbp2	C	T	5: 128,803,861	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,431,284	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546	L263F	probably benign	Het
Sec14l1	T	G	11: 117,149,140		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spaca1	T	C	4: 34,044,267		probably null	Het
Stk36	C	T	1: 74,612,730	P394L	probably benign	Het
Stk4	T	C	2: 164,096,800	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,517,376	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005	T212M	probably damaging	Het
Tnfsf11	T	G	14: 78,299,912	T104P	probably benign	Het
Trmt2a	G	A	16: 18,249,703	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,831,778	E324*	probably null	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Wdr18	G	A	10: 79,967,502	R400H	probably benign	Het
Wdr78	A	G	4: 103,048,259	V775A	probably damaging	Het
Zfp119b	T	A	17: 55,938,671	H505L	probably damaging	Het
Zfp619	T	A	7: 39,536,797	C750*	probably null	Het
Zfr	T	C	15: 12,160,591	I750T	probably benign	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
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
R5825:Tmprss11g	UTSW	5	86498533	missense	probably damaging	0.98
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'- CACAAGGTATTTCTCACCACCGGG -3'
(R):5'- TCATTGTTCACGAGAACTACGCCTC -3'

Sequencing Primer
(F):5'- CCTGCTGCTTTATGGAAAGAATG -3'
(R):5'- TCCCACAAGCACGACGATG -3'

Posted On

2013-04-24