Mutagenetix > Incidental Mutations

Incidental Mutation 'R7590:Tmprss11c'

587350

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11c

Ensembl Gene

ENSMUSG00000061184

Gene Name

transmembrane protease, serine 11c

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7590 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86231481-86289308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86239473 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 195 (H195Q)

Ref Sequence

ENSEMBL: ENSMUSP00000062915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059424] [ENSMUST00000196462]

Predicted Effect

probably benign
Transcript: ENSMUST00000059424
AA Change: H195Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: H195Q

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
SEA	58	183	5.19e-3	SMART
Tryp_SPc	199	425	8.42e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196462
AA Change: H182Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: H182Q

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
SEA	58	176	3.6e-4	SMART
Tryp_SPc	186	412	4.1e-93	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,938,515	T1373S	probably damaging	Het
Bbox1	A	T	2: 110,268,232	N333K	probably benign	Het
Bcl11b	T	A	12: 108,003,143	M1L	probably benign	Het
C1s2	T	A	6: 124,632,128	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710	M384K	probably damaging	Het
Chpt1	A	G	10: 88,480,826	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,888,587	G731D	probably benign	Het
Dlk2	A	T	17: 46,298,683	S21C	probably benign	Het
Ell2	T	C	13: 75,770,735	L620P	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,591,774	V414A	probably benign	Het
Fmo1	T	A	1: 162,859,682		probably benign	Het
Fyb2	A	G	4: 104,945,246	N115S	probably benign	Het
Gdi2	A	G	13: 3,564,611	T319A	probably benign	Het
Gm10471	G	T	5: 26,085,766	H136N	possibly damaging	Het
Hecw1	A	G	13: 14,264,083	V905A	probably damaging	Het
Ireb2	T	A	9: 54,896,495	V490D	probably benign	Het
Lbr	A	G	1: 181,821,511	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,321,634	D191E	possibly damaging	Het
Mlip	A	T	9: 77,230,043	D527E	probably benign	Het
Myom2	A	G	8: 15,117,679	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nckap5	G	T	1: 126,026,533	Q761K	probably benign	Het
Neb	A	T	2: 52,243,842	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693	*1116W	probably null	Het
Olfr224	T	C	11: 58,567,259	I29V	probably benign	Het
Olfr491	A	T	7: 108,317,179	H95L	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
Pak2	A	T	16: 32,052,196	I56K	probably benign	Het
Pgm5	T	C	19: 24,709,265	Y526C	probably damaging	Het
Phc2	T	A	4: 128,748,027	L714H	probably damaging	Het
Phf13	A	T	4: 151,991,775	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882		probably null	Het
Rbm6	A	T	9: 107,791,750		probably null	Het
Scn10a	A	G	9: 119,666,400	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,114,906	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,279,463	I321F	possibly damaging	Het
Spata9	T	C	13: 75,977,652	S85P	possibly damaging	Het
Ssb	G	A	2: 69,867,290	A122T	probably benign	Het
Ssfa2	G	T	2: 79,658,110	V846F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Ten1	T	C	11: 116,205,640	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725	V358G	probably damaging	Het
Tor4a	A	G	2: 25,195,798	V31A	possibly damaging	Het
Trim29	G	A	9: 43,311,491	A206T	probably damaging	Het
Trim71	A	C	9: 114,562,825	V98G	probably benign	Het
Trpm6	C	G	19: 18,832,581	L1114V	probably benign	Het
Usp1	A	G	4: 98,934,252	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,561,729	I767F	probably damaging	Het

Other mutations in Tmprss11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tmprss11c	APN	5	86239395	missense	probably benign	0.00
IGL01357:Tmprss11c	APN	5	86231807	missense	probably damaging	1.00
IGL01809:Tmprss11c	APN	5	86237662	missense	possibly damaging	0.89
IGL02972:Tmprss11c	APN	5	86237833	missense	possibly damaging	0.77
IGL03135:Tmprss11c	APN	5	86237650	missense	probably damaging	1.00
IGL03255:Tmprss11c	APN	5	86271482	missense	probably damaging	0.99
IGL03355:Tmprss11c	APN	5	86231871	missense	probably benign	0.03
R0165:Tmprss11c	UTSW	5	86231927	splice site	probably benign
R0285:Tmprss11c	UTSW	5	86271430	missense	probably damaging	1.00
R0480:Tmprss11c	UTSW	5	86237609	splice site	probably benign
R0639:Tmprss11c	UTSW	5	86235469	missense	probably damaging	1.00
R1554:Tmprss11c	UTSW	5	86289260	start codon destroyed	possibly damaging	0.59
R1651:Tmprss11c	UTSW	5	86239424	missense	probably damaging	1.00
R2234:Tmprss11c	UTSW	5	86282086	missense	probably benign	0.12
R2235:Tmprss11c	UTSW	5	86282086	missense	probably benign	0.12
R2698:Tmprss11c	UTSW	5	86271463	missense	probably damaging	1.00
R4787:Tmprss11c	UTSW	5	86256453	missense	probably benign	0.00
R4962:Tmprss11c	UTSW	5	86237710	missense	probably damaging	1.00
R5063:Tmprss11c	UTSW	5	86237830	missense	probably benign	0.28
R5217:Tmprss11c	UTSW	5	86256390	missense	probably benign
R5366:Tmprss11c	UTSW	5	86282134	missense	possibly damaging	0.93
R6343:Tmprss11c	UTSW	5	86256345	missense	probably damaging	1.00
R6598:Tmprss11c	UTSW	5	86289233	missense	probably benign	0.01
R6681:Tmprss11c	UTSW	5	86289260	start codon destroyed	possibly damaging	0.59
R7170:Tmprss11c	UTSW	5	86237619	critical splice donor site	probably null
R7198:Tmprss11c	UTSW	5	86231832	missense	probably damaging	1.00
R7258:Tmprss11c	UTSW	5	86271413	missense	probably damaging	1.00
R7382:Tmprss11c	UTSW	5	86231864	missense	probably benign	0.19
R7391:Tmprss11c	UTSW	5	86237791	missense	probably damaging	1.00
R7894:Tmprss11c	UTSW	5	86231796	missense	probably damaging	1.00
R8164:Tmprss11c	UTSW	5	86231853	missense	probably damaging	1.00
R8311:Tmprss11c	UTSW	5	86235553	missense	probably damaging	1.00
R8416:Tmprss11c	UTSW	5	86239417	missense	probably damaging	1.00
R8426:Tmprss11c	UTSW	5	86231818	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTGCCCTTGAGACCTTC -3'
(R):5'- GACTAAGATGGCAACGTATTTGG -3'

Sequencing Primer
(F):5'- CCCAGGTCTTAGCTCACCGTATG -3'
(R):5'- CTTCAGGAAATCATGTCAGCAG -3'

Posted On

2019-10-24