Mutagenetix > Incidental Mutations

Incidental Mutation 'R3919:Tmprss4'

306899

Institutional Source

Beutler Lab

Gene Symbol

Tmprss4

Ensembl Gene

ENSMUSG00000032091

Gene Name

transmembrane protease, serine 4

Synonyms

MMRRC Submission

040817-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45172726-45204092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45180666 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 174 (V174M)

Ref Sequence

ENSEMBL: ENSMUSP00000131890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034599] [ENSMUST00000165263] [ENSMUST00000170069]

Predicted Effect

probably benign
Transcript: ENSMUST00000034599
AA Change: V174M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034599
Gene: ENSMUSG00000032091
AA Change: V174M

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
LDLa	52	92	1.55e-2	SMART
SR	102	192	2.51e-7	SMART
Tryp_SPc	202	427	9.03e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164650

SMART Domains

Protein: ENSMUSP00000130853
Gene: ENSMUSG00000091996

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165263
AA Change: V174M

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131890
Gene: ENSMUSG00000032091
AA Change: V174M

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
LDLa	52	92	1.55e-2	SMART
SR	102	192	2.51e-7	SMART
Tryp_SPc	202	335	2.26e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171277

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele appear healthy and response normally to a sodium-deficient diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740	S674P	unknown	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036		probably benign	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750	S132N	probably benign	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832	C283S	probably damaging	Het

Other mutations in Tmprss4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Tmprss4	APN	9	45179420	missense	probably damaging	1.00
R0153:Tmprss4	UTSW	9	45184336	missense	probably benign	0.01
R1445:Tmprss4	UTSW	9	45184385	missense	possibly damaging	0.59
R2359:Tmprss4	UTSW	9	45185832	missense	probably benign
R3918:Tmprss4	UTSW	9	45180666	missense	probably benign	0.13
R4655:Tmprss4	UTSW	9	45176404	missense	probably benign
R4949:Tmprss4	UTSW	9	45175543	missense	possibly damaging	0.92
R4976:Tmprss4	UTSW	9	45173408	missense	possibly damaging	0.86
R5177:Tmprss4	UTSW	9	45173962	missense	probably benign	0.09
R5918:Tmprss4	UTSW	9	45175116	nonsense	probably null
R6922:Tmprss4	UTSW	9	45185922	missense	probably benign
R7091:Tmprss4	UTSW	9	45184273	missense	probably damaging	0.97
R7488:Tmprss4	UTSW	9	45175555	missense	probably benign	0.03
X0058:Tmprss4	UTSW	9	45177833	missense	probably damaging	1.00
Z1088:Tmprss4	UTSW	9	45175465	missense	probably damaging	0.98
Z1177:Tmprss4	UTSW	9	45176519	missense	probably benign	0.44
Z1177:Tmprss4	UTSW	9	45184241	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TGAGCCTGAACGTGGAATCC -3'
(R):5'- CCTTGATGTGGGGACTATTCC -3'

Sequencing Primer
(F):5'- GTGGAATCCCAAAACCCTGG -3'
(R):5'- GGGGACTATTCCTGCTATCCAG -3'

Posted On

2015-04-17