Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Tmprss4'

461474

Institutional Source

Beutler Lab

Gene Symbol

Tmprss4

Ensembl Gene

ENSMUSG00000032091

Gene Name

transmembrane protease, serine 4

Synonyms

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45084024-45115390 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 45086414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 378 (K378*)

Ref Sequence

ENSEMBL: ENSMUSP00000034599 (fasta)

Gene Model

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

AlphaFold

Q8VCA5

Predicted Effect

probably null
Transcript: ENSMUST00000034599
AA Change: K378*

SMART Domains

Protein: ENSMUSP00000034599
Gene: ENSMUSG00000032091
AA Change: K378*

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

probably benign
Transcript: ENSMUST00000165263

SMART Domains

Protein: ENSMUSP00000131890
Gene: ENSMUSG00000032091

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

noncoding transcript
Transcript: ENSMUST00000166780

Predicted Effect

probably benign
Transcript: ENSMUST00000170069

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Tmprss4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Tmprss4	APN	9	45,090,718 (GRCm39)	missense	probably damaging	1.00
R0153:Tmprss4	UTSW	9	45,095,634 (GRCm39)	missense	probably benign	0.01
R1445:Tmprss4	UTSW	9	45,095,683 (GRCm39)	missense	possibly damaging	0.59
R2359:Tmprss4	UTSW	9	45,097,130 (GRCm39)	missense	probably benign
R3918:Tmprss4	UTSW	9	45,091,964 (GRCm39)	missense	probably benign	0.13
R3919:Tmprss4	UTSW	9	45,091,964 (GRCm39)	missense	probably benign	0.13
R4655:Tmprss4	UTSW	9	45,087,702 (GRCm39)	missense	probably benign
R4949:Tmprss4	UTSW	9	45,086,841 (GRCm39)	missense	possibly damaging	0.92
R4976:Tmprss4	UTSW	9	45,084,706 (GRCm39)	missense	possibly damaging	0.86
R5177:Tmprss4	UTSW	9	45,085,260 (GRCm39)	missense	probably benign	0.09
R6922:Tmprss4	UTSW	9	45,097,220 (GRCm39)	missense	probably benign
R7091:Tmprss4	UTSW	9	45,095,571 (GRCm39)	missense	probably damaging	0.97
R7488:Tmprss4	UTSW	9	45,086,853 (GRCm39)	missense	probably benign	0.03
R8431:Tmprss4	UTSW	9	45,095,661 (GRCm39)	missense	probably benign	0.35
R8781:Tmprss4	UTSW	9	45,087,740 (GRCm39)	missense	possibly damaging	0.96
R9654:Tmprss4	UTSW	9	45,090,700 (GRCm39)	critical splice donor site	probably null
X0058:Tmprss4	UTSW	9	45,089,131 (GRCm39)	missense	probably damaging	1.00
Z1088:Tmprss4	UTSW	9	45,086,763 (GRCm39)	missense	probably damaging	0.98
Z1177:Tmprss4	UTSW	9	45,095,539 (GRCm39)	missense	possibly damaging	0.47
Z1177:Tmprss4	UTSW	9	45,087,817 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TCGTCTAGAGCCAACTATCACC -3'
(R):5'- GGGCCCAGAAAATTAACCTGG -3'

Sequencing Primer
(F):5'- GTCTAGAGCCAACTATCACCTATCC -3'
(R):5'- CCAGAAAATTAACCTGGGCTGAG -3'

Posted On

2017-02-28