Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Tmprss3'

654342

Institutional Source

Beutler Lab

Gene Symbol

Tmprss3

Ensembl Gene

ENSMUSG00000024034

Gene Name

transmembrane protease, serine 3

Synonyms

MMRRC Submission

067825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31398239-31417951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31413976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 56 (D56G)

Ref Sequence

ENSEMBL: ENSMUSP00000110196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024833] [ENSMUST00000114549]

AlphaFold

Q8K1T0

Predicted Effect

probably benign
Transcript: ENSMUST00000024833
AA Change: D34G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: D34G

Domain	Start	End	E-Value	Type
transmembrane domain	49	71	N/A	INTRINSIC
LDLa	72	109	1.76e-5	SMART
SR	108	205	3.99e-4	SMART
Tryp_SPc	216	443	5.22e-96	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114549
AA Change: D56G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: D56G

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
LDLa	94	131	1.76e-5	SMART
SR	130	227	3.99e-4	SMART
Tryp_SPc	238	465	5.22e-96	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. 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 by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,449 (GRCm39)	V1293M	probably damaging	Het
Agt	A	G	8: 125,290,537 (GRCm39)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,620,406 (GRCm39)	N457K	probably benign	Het
Bcl3	G	T	7: 19,554,082 (GRCm39)	H95Q	probably benign	Het
C1d	T	A	11: 17,213,662 (GRCm39)	N64K	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd300c2	C	T	11: 114,891,466 (GRCm39)	S136N	probably benign	Het
Cdh8	A	G	8: 99,757,672 (GRCm39)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,331,706 (GRCm39)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,744,887 (GRCm39)	E86G	probably damaging	Het
Cplane1	A	G	15: 8,230,635 (GRCm39)	I971V	probably benign	Het
Cracdl	A	G	1: 37,652,537 (GRCm39)	V1090A	probably benign	Het
Csf3r	A	T	4: 125,923,712 (GRCm39)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,710,789 (GRCm39)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,024,875 (GRCm39)	Q580R	probably damaging	Het
Dnai2	A	T	11: 114,645,275 (GRCm39)	K570M	unknown	Het
Dock8	A	G	19: 25,133,281 (GRCm39)	K1143E	probably benign	Het
Dxo	T	C	17: 35,058,099 (GRCm39)	S394P	probably benign	Het
Etl4	A	G	2: 20,810,977 (GRCm39)	D1388G	probably benign	Het
F13a1	C	A	13: 37,209,692 (GRCm39)	R91L	probably damaging	Het
Fam50b	C	T	13: 34,930,856 (GRCm39)	R111*	probably null	Het
Fat2	T	G	11: 55,202,535 (GRCm39)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,311,768 (GRCm39)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,281,156 (GRCm39)	S260T	possibly damaging	Het
Fos	T	C	12: 85,522,466 (GRCm39)	L165P	probably damaging	Het
Gm39115	C	A	7: 141,689,710 (GRCm39)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,005,000 (GRCm39)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,467,172 (GRCm39)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,836,060 (GRCm39)	K9N	probably damaging	Het
Ift70a1	T	C	2: 75,811,519 (GRCm39)	D188G	probably benign	Het
Ireb2	T	C	9: 54,811,265 (GRCm39)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,496,309 (GRCm39)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 26,382,092 (GRCm39)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Klra8	A	G	6: 130,105,056 (GRCm39)	V23A	probably damaging	Het
Lig4	A	G	8: 10,023,777 (GRCm39)	M1T	probably null	Het
Lpin3	C	T	2: 160,737,273 (GRCm39)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,265,867 (GRCm39)	K1100*	probably null	Het
Obscn	G	A	11: 58,929,700 (GRCm39)	H5172Y	probably damaging	Het
Or10a3m	T	A	7: 108,313,418 (GRCm39)	M286K	possibly damaging	Het
Or4p20	A	G	2: 88,253,745 (GRCm39)	I208T	probably benign	Het
Or5ae1	C	T	7: 84,565,787 (GRCm39)	H267Y	probably benign	Het
Or6z1	T	A	7: 6,504,734 (GRCm39)	T170S	probably damaging	Het
Or8c14-ps1	A	T	9: 38,101,498 (GRCm39)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm39)	L298P	probably damaging	Het
Otub1	A	G	19: 7,177,360 (GRCm39)	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,736,670 (GRCm39)	S156P	probably benign	Het
Pde3b	A	G	7: 114,126,129 (GRCm39)	M788V	probably damaging	Het
Pias4	A	G	10: 80,992,844 (GRCm39)		probably null	Het
Polg	A	G	7: 79,114,743 (GRCm39)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,541,467 (GRCm39)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,401,050 (GRCm39)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,806,515 (GRCm39)	T108A	probably benign	Het
Ribc2	A	G	15: 85,019,461 (GRCm39)	D81G	probably benign	Het
Rnf213	T	G	11: 119,340,149 (GRCm39)	M3460R		Het
Rsf1	T	A	7: 97,266,103 (GRCm39)	S86T		Het
Rxfp2	C	A	5: 149,973,068 (GRCm39)	T181N	possibly damaging	Het
Samm50	G	A	15: 84,094,702 (GRCm39)	E365K	possibly damaging	Het
Shld2	A	C	14: 33,989,942 (GRCm39)	N321K	probably benign	Het
Slc22a18	T	C	7: 143,051,123 (GRCm39)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,110,085 (GRCm39)	C97S	probably benign	Het
Smchd1	T	A	17: 71,714,244 (GRCm39)	H873L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Sphkap	T	A	1: 83,255,953 (GRCm39)	I599F	probably benign	Het
Stox1	A	G	10: 62,501,543 (GRCm39)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,142,036 (GRCm39)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,413,421 (GRCm39)		probably null	Het
Trabd	A	G	15: 88,970,107 (GRCm39)	R368G	probably benign	Het
Trf	A	G	9: 103,094,675 (GRCm39)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,676,226 (GRCm39)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Vps13b	T	A	15: 35,455,246 (GRCm39)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,345,166 (GRCm39)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,795,866 (GRCm39)	D235G	probably benign	Het
Zfp407	T	C	18: 84,227,987 (GRCm39)	E1874G	probably damaging	Het
Zfp503	T	C	14: 22,036,277 (GRCm39)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,084,651 (GRCm39)	V491A	probably damaging	Het

Other mutations in Tmprss3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Tmprss3	APN	17	31,413,982 (GRCm39)	missense	probably damaging	0.97
IGL01836:Tmprss3	APN	17	31,410,018 (GRCm39)	missense	probably benign
IGL02525:Tmprss3	APN	17	31,413,865 (GRCm39)	splice site	probably benign
IGL02672:Tmprss3	APN	17	31,409,981 (GRCm39)	missense	probably damaging	1.00
IGL02900:Tmprss3	APN	17	31,403,553 (GRCm39)	missense	probably damaging	1.00
R0122:Tmprss3	UTSW	17	31,412,876 (GRCm39)	splice site	probably benign
R0617:Tmprss3	UTSW	17	31,412,886 (GRCm39)	missense	probably damaging	1.00
R4001:Tmprss3	UTSW	17	31,405,533 (GRCm39)	missense	probably damaging	1.00
R5587:Tmprss3	UTSW	17	31,412,966 (GRCm39)	missense	probably benign	0.00
R6077:Tmprss3	UTSW	17	31,408,141 (GRCm39)	missense	possibly damaging	0.94
R6271:Tmprss3	UTSW	17	31,405,536 (GRCm39)	missense	probably damaging	1.00
R6329:Tmprss3	UTSW	17	31,402,833 (GRCm39)	nonsense	probably null
R6918:Tmprss3	UTSW	17	31,407,331 (GRCm39)	missense	probably benign	0.19
R8279:Tmprss3	UTSW	17	31,416,709 (GRCm39)	missense	probably benign	0.20
R8372:Tmprss3	UTSW	17	31,403,671 (GRCm39)	missense	probably benign	0.00
R8427:Tmprss3	UTSW	17	31,407,358 (GRCm39)	missense	probably damaging	0.99
R9041:Tmprss3	UTSW	17	31,410,014 (GRCm39)	missense	probably benign	0.02
R9315:Tmprss3	UTSW	17	31,403,644 (GRCm39)	missense	probably null	0.46
R9388:Tmprss3	UTSW	17	31,410,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGGCCACCAGTAATTAAG -3'
(R):5'- ACCCAGACAACGTGGTCATTC -3'

Sequencing Primer
(F):5'- GCCACCAGTAATTAAGGCCAGG -3'
(R):5'- CGTGGTCATTCATCTAACCAAGTCAG -3'

Posted On

2020-10-20