Mutagenetix > Incidental Mutation

Incidental Mutation 'R7914:Tmprss12'

647973

Institutional Source

Beutler Lab

Gene Symbol

Tmprss12

Ensembl Gene

ENSMUSG00000045631

Gene Name

transmembrane (C-terminal) protease, serine 12

Synonyms

4930478A21Rik

MMRRC Submission

045962-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100178743-100190943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100183111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 151 (F151S)

Ref Sequence

ENSEMBL: ENSMUSP00000093914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096200]

AlphaFold

Q3V0Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000096200
AA Change: F151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093914
Gene: ENSMUSG00000045631
AA Change: F151S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Tryp_SPc	65	301	1.82e-77	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,428,538 (GRCm39)	V12F	probably benign	Het
Adnp2	T	A	18: 80,174,056 (GRCm39)	R118W	probably damaging	Het
Apaf1	G	A	10: 90,896,095 (GRCm39)	R337C	probably damaging	Het
Arhgef40	T	C	14: 52,225,032 (GRCm39)	L59P	probably damaging	Het
B020011L13Rik	A	G	1: 117,729,162 (GRCm39)	E223G	probably benign	Het
Bcl6	T	C	16: 23,788,761 (GRCm39)	R536G	possibly damaging	Het
Bltp1	A	T	3: 37,000,432 (GRCm39)	N1204Y	probably benign	Het
Catsperg1	T	C	7: 28,894,851 (GRCm39)	E582G	probably benign	Het
Ccdc136	A	G	6: 29,419,306 (GRCm39)	N942S	probably damaging	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cep78	T	C	19: 15,953,672 (GRCm39)	E283G	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
E230025N22Rik	C	A	18: 36,828,605 (GRCm39)	R24S	possibly damaging	Het
Epb41l1	T	A	2: 156,364,128 (GRCm39)	M879K	probably benign	Het
Fam135a	T	C	1: 24,065,760 (GRCm39)	Y1226C	probably damaging	Het
Fbxo11	T	C	17: 88,320,031 (GRCm39)	E151G		Het
Herc6	A	G	6: 57,584,106 (GRCm39)	T322A	probably benign	Het
Inka1	T	C	9: 107,862,761 (GRCm39)		probably benign	Het
Kalrn	T	A	16: 33,849,122 (GRCm39)	Q2110L	probably benign	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc19	T	A	4: 94,526,537 (GRCm39)	H340L	probably damaging	Het
Mkks	A	T	2: 136,722,876 (GRCm39)	F94I	probably damaging	Het
Pcdhga3	T	A	18: 37,808,013 (GRCm39)	F155L	probably benign	Het
Pdlim1	T	A	19: 40,240,445 (GRCm39)	I53F	probably damaging	Het
Pttg1	A	T	11: 43,316,421 (GRCm39)	L26Q	probably benign	Het
Rasa4	T	A	5: 136,130,510 (GRCm39)		probably benign	Het
Rsbn1l	A	G	5: 21,110,896 (GRCm39)	S481P	probably damaging	Het
Sae1	C	A	7: 16,121,648 (GRCm39)	G10C	unknown	Het
Samd15	T	C	12: 87,248,559 (GRCm39)	S415P	probably damaging	Het
Scn7a	T	A	2: 66,530,294 (GRCm39)	I684F	probably damaging	Het
Sec23b	T	A	2: 144,406,565 (GRCm39)	M120K	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slf2	T	A	19: 44,947,499 (GRCm39)	M821K	possibly damaging	Het
Suv39h2	G	A	2: 3,465,453 (GRCm39)	R301*	probably null	Het
Tgfbi	A	G	13: 56,777,502 (GRCm39)	T329A	probably damaging	Het
Ttn	T	C	2: 76,747,525 (GRCm39)	D4508G	probably benign	Het
Tyk2	C	A	9: 21,032,851 (GRCm39)	C304F	probably benign	Het
Vmn1r121	T	A	7: 20,831,589 (GRCm39)	T284S	probably benign	Het
Vmn2r117	A	G	17: 23,679,100 (GRCm39)	I708T	possibly damaging	Het
Vmn2r2	A	T	3: 64,041,526 (GRCm39)	D396E	probably benign	Het
Zfc3h1	A	G	10: 115,239,062 (GRCm39)		probably null	Het
Zic4	T	G	9: 91,266,181 (GRCm39)	V275G	probably damaging	Het

Other mutations in Tmprss12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02967:Tmprss12	APN	15	100,183,262 (GRCm39)	missense	probably benign	0.31
IGL03080:Tmprss12	APN	15	100,190,529 (GRCm39)	missense	probably damaging	1.00
R0497:Tmprss12	UTSW	15	100,178,920 (GRCm39)	splice site	probably benign
R1035:Tmprss12	UTSW	15	100,183,081 (GRCm39)	missense	probably benign	0.18
R1800:Tmprss12	UTSW	15	100,190,428 (GRCm39)	missense	probably benign	0.27
R2096:Tmprss12	UTSW	15	100,183,117 (GRCm39)	missense	probably benign	0.00
R2851:Tmprss12	UTSW	15	100,180,296 (GRCm39)	missense	possibly damaging	0.94
R4193:Tmprss12	UTSW	15	100,187,185 (GRCm39)	missense	probably damaging	1.00
R6498:Tmprss12	UTSW	15	100,183,133 (GRCm39)	missense	probably damaging	0.99
R6931:Tmprss12	UTSW	15	100,183,149 (GRCm39)	missense	probably damaging	0.99
R8272:Tmprss12	UTSW	15	100,180,146 (GRCm39)	missense	probably benign	0.39
R9410:Tmprss12	UTSW	15	100,190,622 (GRCm39)	missense	possibly damaging	0.85
R9761:Tmprss12	UTSW	15	100,190,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTGTTGTCAGGCTGATATCTAG -3'
(R):5'- TCTACCAGCAAGCAGGAAGG -3'

Sequencing Primer
(F):5'- TGTCAGGCTGATATCTAGGGGAAATG -3'
(R):5'- GTCGGACTCAGACAATAGTTACCTTC -3'

Posted On

2020-09-15