Mutagenetix > Incidental Mutation

Incidental Mutation 'R6329:Tmprss3'

509435

Institutional Source

Beutler Lab

Gene Symbol

Tmprss3

Ensembl Gene

ENSMUSG00000024034

Gene Name

transmembrane protease, serine 3

Synonyms

MMRRC Submission

044483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31398239-31417951 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31402833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 455 (Y455*)

Ref Sequence

ENSEMBL: ENSMUSP00000110196 (fasta)

Gene Model

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

AlphaFold

Q8K1T0

Predicted Effect

probably null
Transcript: ENSMUST00000024833
AA Change: Y433*

SMART Domains

Protein: ENSMUSP00000024833
Gene: ENSMUSG00000024034
AA Change: Y433*

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

probably null
Transcript: ENSMUST00000114549
AA Change: Y455*

SMART Domains

Protein: ENSMUSP00000110196
Gene: ENSMUSG00000024034
AA Change: Y455*

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: 99.3%
20x: 97.6%

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
4930579F01Rik	T	C	3: 137,879,457 (GRCm39)	H72R	probably damaging	Het
Abca13	A	T	11: 9,227,937 (GRCm39)	N660I	probably damaging	Het
Actr8	C	T	14: 29,715,041 (GRCm39)	R619*	probably null	Het
Adam18	C	A	8: 25,104,843 (GRCm39)	G657V	probably damaging	Het
Adcyap1	A	G	17: 93,510,227 (GRCm39)	E85G	probably benign	Het
Akr1c14	A	G	13: 4,137,302 (GRCm39)	Y305C	probably damaging	Het
Ankdd1b	T	A	13: 96,591,388 (GRCm39)	H37L	possibly damaging	Het
Ap4e1	T	C	2: 126,903,636 (GRCm39)	L846P	probably benign	Het
Aqp9	A	T	9: 71,039,966 (GRCm39)	Y105*	probably null	Het
Arid1b	C	T	17: 5,387,538 (GRCm39)	Q1664*	probably null	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Bnip1	C	A	17: 27,005,684 (GRCm39)	S64*	probably null	Het
Calcr	T	A	6: 3,687,621 (GRCm39)	Q422L	probably damaging	Het
Ccdc162	T	A	10: 41,539,147 (GRCm39)	D407V	possibly damaging	Het
Ccdc66	G	T	14: 27,208,441 (GRCm39)	S760R	probably benign	Het
Cd22	T	A	7: 30,577,193 (GRCm39)	E38V	probably damaging	Het
Cggbp1	T	C	16: 64,676,383 (GRCm39)	Y150H	probably damaging	Het
Chd3	T	C	11: 69,252,510 (GRCm39)	K263R	possibly damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Col6a2	T	C	10: 76,435,662 (GRCm39)	T858A	probably benign	Het
Dnah7a	T	A	1: 53,580,273 (GRCm39)	D1554V	probably damaging	Het
Dnajc25	A	T	4: 59,013,678 (GRCm39)	Q132L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Ehbp1l1	A	C	19: 5,768,795 (GRCm39)	I836S	possibly damaging	Het
Elf1	A	G	14: 79,810,779 (GRCm39)	Q288R	possibly damaging	Het
Fbn1	C	A	2: 125,150,393 (GRCm39)	V2608L	possibly damaging	Het
Frmpd1	T	C	4: 45,268,551 (GRCm39)	I232T	possibly damaging	Het
Fuca1	T	A	4: 135,662,137 (GRCm39)	I355N	probably damaging	Het
Gcnt4	A	G	13: 97,083,781 (GRCm39)	D359G	probably damaging	Het
Gm5134	T	C	10: 75,790,494 (GRCm39)	M30T	possibly damaging	Het
Grk1	T	G	8: 13,455,704 (GRCm39)	L196R	probably damaging	Het
Igkv14-126	A	C	6: 67,873,548 (GRCm39)	D92A	probably damaging	Het
Kmt2c	A	G	5: 25,520,600 (GRCm39)	S1837P	probably benign	Het
Lhx4	T	A	1: 155,578,300 (GRCm39)	T281S	probably benign	Het
Lrrc55	G	T	2: 85,026,653 (GRCm39)	H124N	probably benign	Het
Marchf8	T	A	6: 116,383,277 (GRCm39)	I566N	possibly damaging	Het
Mycbp2	G	A	14: 103,393,288 (GRCm39)	A3091V	probably benign	Het
Nlrp4b	A	G	7: 10,458,847 (GRCm39)	N355S	probably benign	Het
Nmur2	A	G	11: 55,920,411 (GRCm39)	V278A	probably benign	Het
Nod1	T	C	6: 54,921,689 (GRCm39)	M210V	probably benign	Het
Nt5c1b	T	A	12: 10,422,138 (GRCm39)	C63*	probably null	Het
Or1e1f	A	G	11: 73,855,568 (GRCm39)	I45V	possibly damaging	Het
Or1j17	A	T	2: 36,578,694 (GRCm39)	K227*	probably null	Het
Or4g7	C	T	2: 111,309,573 (GRCm39)	A148V	possibly damaging	Het
Or5d37	G	A	2: 87,924,008 (GRCm39)	P91S	probably damaging	Het
Or7g21	A	C	9: 19,032,253 (GRCm39)	M1L	probably benign	Het
Or8b37	T	C	9: 37,959,121 (GRCm39)	V201A	probably benign	Het
Or8g24	C	T	9: 38,989,199 (GRCm39)	V281I	probably benign	Het
Osbp2	T	A	11: 3,665,153 (GRCm39)	S517C	probably damaging	Het
Pcdha1	C	T	18: 37,065,301 (GRCm39)	P655L	probably damaging	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Perp	G	A	10: 18,731,502 (GRCm39)	G154S	probably damaging	Het
Perp	G	T	10: 18,731,503 (GRCm39)	G154V	probably damaging	Het
Pira13	T	C	7: 3,825,850 (GRCm39)	T340A	probably damaging	Het
Prokr1	T	G	6: 87,558,774 (GRCm39)	T204P	possibly damaging	Het
Prpf3	A	T	3: 95,739,890 (GRCm39)	C630S	probably damaging	Het
Pter	C	A	2: 12,985,359 (GRCm39)	H230N	probably damaging	Het
Ptprs	A	T	17: 56,724,427 (GRCm39)	Y1167*	probably null	Het
Rad54l2	T	C	9: 106,595,121 (GRCm39)	I279V	possibly damaging	Het
Rora	T	A	9: 69,280,468 (GRCm39)	L347Q	probably damaging	Het
Runx1t1	T	G	4: 13,785,136 (GRCm39)	M1R	probably null	Het
Sdcbp	A	G	4: 6,381,064 (GRCm39)	S70G	probably benign	Het
Serpinb12	A	G	1: 106,881,493 (GRCm39)	Y210C	probably damaging	Het
Sipa1	T	C	19: 5,701,517 (GRCm39)	E1015G	probably damaging	Het
Slc15a2	A	C	16: 36,572,144 (GRCm39)	L740R	possibly damaging	Het
Specc1	A	G	11: 62,047,379 (GRCm39)	E916G	probably damaging	Het
Spta1	T	C	1: 174,041,743 (GRCm39)	I1371T	possibly damaging	Het
Tagln3	T	C	16: 45,533,365 (GRCm39)	M130V	probably benign	Het
Tchh	A	T	3: 93,353,752 (GRCm39)	E1064V	unknown	Het
Tdp1	A	T	12: 99,880,330 (GRCm39)	S464C	probably damaging	Het
Tdp1	G	C	12: 99,880,331 (GRCm39)	S464T	probably benign	Het
Tenm3	T	C	8: 48,729,884 (GRCm39)	Y1374C	probably damaging	Het
Ttc5	A	G	14: 51,003,385 (GRCm39)	V433A	possibly damaging	Het
Wnt5a	A	T	14: 28,240,449 (GRCm39)	R180*	probably null	Het
Zfp53	A	G	17: 21,728,372 (GRCm39)	D135G	probably benign	Het
Zfp619	T	A	7: 39,186,969 (GRCm39)	C1000S	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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
R8443:Tmprss3	UTSW	17	31,413,976 (GRCm39)	missense	possibly damaging	0.81
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'- TCCTTGTTGAGTCAGGCAGG -3'
(R):5'- ATGGAAAGTCTGTGCAGCCG -3'

Sequencing Primer
(F):5'- TGTATGCCTGGGTCACACC -3'
(R):5'- TGCAGCCGGGACAGTATAGC -3'

Posted On

2018-04-02