Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Tmprss11c'

564408

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11c

Ensembl Gene

ENSMUSG00000061184

Gene Name

transmembrane protease, serine 11c

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86231481-86289308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86271413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 96 (S96P)

Ref Sequence

ENSEMBL: ENSMUSP00000062915 (fasta)

Gene Model

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

AlphaFold

Q1JRP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059424
AA Change: S96P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: S96P

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 damaging
Transcript: ENSMUST00000196462
AA Change: S96P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: S96P

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	A	C	1: 87,475,067	I40L	probably benign	Het
4933402J07Rik	A	C	8: 87,586,177	S197R	probably damaging	Het
Abcc12	T	C	8: 86,560,857	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,450,219	I67V	probably benign	Het
Alpk1	A	T	3: 127,724,466	V62E	probably damaging	Het
Ankar	A	G	1: 72,651,727	V1196A	probably benign	Het
B230118H07Rik	T	C	2: 101,610,592	D22G	probably null	Het
Ccr5	A	T	9: 124,125,274	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,326,084	H339R	probably damaging	Het
Cep290	T	G	10: 100,499,108	M330R	probably benign	Het
Cyfip2	T	C	11: 46,224,177	Y901C	probably benign	Het
Ddx54	T	G	5: 120,620,747	Y352D	probably damaging	Het
Defa35	A	T	8: 21,065,229	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,683,599		probably null	Het
Enpep	A	C	3: 129,332,075	L136R	probably benign	Het
Epb41l2	G	A	10: 25,484,287	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,300,953	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,506,781	L410H	probably damaging	Het
Gipc2	T	C	3: 152,165,715	E58G	probably damaging	Het
Gm281	A	T	14: 13,899,648	F91L		Het
Gm6309	A	T	5: 146,168,296	V269E	probably benign	Het
Grm5	A	T	7: 88,074,706	T735S	probably damaging	Het
H6pd	T	C	4: 149,996,362	M9V	probably benign	Het
Hmcn1	A	G	1: 150,715,823	I1875T	probably benign	Het
Hrc	T	A	7: 45,336,296	D290E	possibly damaging	Het
Ippk	C	A	13: 49,433,862	Q136K	probably benign	Het
Kcnv1	T	C	15: 45,109,315	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,621,021	E1088A	probably damaging	Het
L1td1	C	T	4: 98,736,864	A432V	probably benign	Het
Ly86	A	G	13: 37,345,497	D20G	probably benign	Het
Myo1g	A	G	11: 6,509,416	I818T	possibly damaging	Het
Nms	A	G	1: 38,946,970	T121A	probably benign	Het
Olfr1084	T	A	2: 86,639,001	K236*	probably null	Het
Olfr1414	A	T	1: 92,511,176	I284N	possibly damaging	Het
Olfr350	T	A	2: 36,850,340	I98K	probably damaging	Het
Olfr391-ps	T	G	11: 73,799,380	I126L	probably damaging	Het
Olfr609	G	C	7: 103,492,589	C96W	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Pcdhb9	T	C	18: 37,402,114	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,093,186	R95H	probably damaging	Het
Pde11a	T	C	2: 76,139,906	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,364,778	D446G	probably benign	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rasal2	A	T	1: 157,157,700	L826M	probably damaging	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Sin3b	T	C	8: 72,750,208	C757R	probably benign	Het
Slc41a1	T	A	1: 131,842,042	V300D	probably benign	Het
Snrpa1	T	C	7: 66,070,143	F162L	probably damaging	Het
Sox30	C	A	11: 45,980,552	A78E	unknown	Het
Ssc4d	G	T	5: 135,963,087	A401E	probably damaging	Het
Steap3	A	G	1: 120,243,986	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,754,907		probably null	Het
Tgfbr2	A	T	9: 116,129,830	I172N	probably damaging	Het
Tgm4	A	G	9: 123,062,491	D557G	probably benign	Het
Trpa1	T	G	1: 14,903,249	T282P	probably damaging	Het
Uba5	A	T	9: 104,062,933	V5E	unknown	Het
Ugt2b36	A	T	5: 87,080,903	L427H	probably damaging	Het
Utp14b	T	A	1: 78,664,974	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,377,849	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,305,141	L354V	probably benign	Het
Wwc2	T	A	8: 47,842,999	N1079Y	unknown	Het
Zfp653	T	C	9: 22,065,820	D145G	probably benign	Het
Zfp777	T	C	6: 48,025,797	E453G	probably damaging	Het
Zfp936	T	A	7: 43,190,379	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,656,954	Y496N	possibly 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
R7382:Tmprss11c	UTSW	5	86231864	missense	probably benign	0.19
R7391:Tmprss11c	UTSW	5	86237791	missense	probably damaging	1.00
R7590:Tmprss11c	UTSW	5	86239473	missense	probably benign	0.01
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
R8877:Tmprss11c	UTSW	5	86237681	nonsense	probably null
R9092:Tmprss11c	UTSW	5	86237636	missense	probably benign	0.04
R9400:Tmprss11c	UTSW	5	86237657	missense	probably benign	0.43
R9614:Tmprss11c	UTSW	5	86235520	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTTCACATGAGAGGAAGCATGG -3'
(R):5'- TCTCAATGAAGTGGGTGTGTAC -3'

Sequencing Primer
(F):5'- AAAATGTGTCCCTTTGCATATTTCC -3'
(R):5'- GTGTACAATGGGAAAACTATGTTCC -3'

Posted On

2019-06-26