Mutagenetix > Incidental Mutation

Incidental Mutation 'R6498:Tmprss12'

523119

Institutional Source

Beutler Lab

Gene Symbol

Tmprss12

Ensembl Gene

ENSMUSG00000045631

Gene Name

transmembrane (C-terminal) protease, serine 12

Synonyms

4930478A21Rik

MMRRC Submission

044630-MU

Accession Numbers

Essential gene?

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

Stock #

R6498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100178743-100190943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100183133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 158 (N158K)

Ref Sequence

ENSEMBL: ENSMUSP00000093914 (fasta)

Gene Model

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

AlphaFold

Q3V0Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000096200
AA Change: N158K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093914
Gene: ENSMUSG00000045631
AA Change: N158K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230901

Meta Mutation Damage Score

0.5014

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 96.9%
20x: 89.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,182,928 (GRCm39)	N1043T	possibly damaging	Het
Actn2	C	T	13: 12,291,359 (GRCm39)	E682K	probably damaging	Het
Agtpbp1	A	G	13: 59,624,854 (GRCm39)	V833A	possibly damaging	Het
Arrb2	G	T	11: 70,330,375 (GRCm39)	R333L	probably benign	Het
Atp9b	C	T	18: 80,820,230 (GRCm39)	S135N	probably benign	Het
Cep112	T	A	11: 108,331,357 (GRCm39)	S135R	probably benign	Het
D630045J12Rik	G	A	6: 38,124,132 (GRCm39)	R1607*	probably null	Het
Duox1	A	T	2: 122,150,088 (GRCm39)	S160C	probably damaging	Het
Eogt	A	T	6: 97,112,174 (GRCm39)	Y160N	probably damaging	Het
Exosc10	T	C	4: 148,657,795 (GRCm39)	V647A	probably benign	Het
Fbxo44	C	T	4: 148,238,882 (GRCm39)			Het
Fen1	G	T	19: 10,177,479 (GRCm39)	R322S	probably damaging	Het
Gls	A	C	1: 52,259,198 (GRCm39)	N134K	probably benign	Het
Hspg2	T	C	4: 137,235,112 (GRCm39)	V82A	possibly damaging	Het
Il33	G	A	19: 29,927,137 (GRCm39)	E23K	probably benign	Het
Macroh2a2	C	A	10: 61,593,614 (GRCm39)	V21F	probably damaging	Het
Map2k5	C	A	9: 63,193,683 (GRCm39)	A266S	possibly damaging	Het
Or13g1	T	C	7: 85,956,226 (GRCm39)	I32V	probably benign	Het
Or2t29	T	A	11: 58,433,408 (GRCm39)	N298I	probably damaging	Het
Or5p61	C	T	7: 107,758,639 (GRCm39)	C147Y	probably benign	Het
Pcdh1	G	A	18: 38,330,490 (GRCm39)	P838S	probably benign	Het
Pcdha5	A	G	18: 37,095,768 (GRCm39)	E759G	possibly damaging	Het
Pclo	T	C	5: 14,719,505 (GRCm39)	I1214T	unknown	Het
Per3	T	C	4: 151,113,662 (GRCm39)	I299V	probably benign	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Synpo2	A	T	3: 122,873,881 (GRCm39)		probably null	Het
Sys1	G	A	2: 164,306,438 (GRCm39)	A131T	probably benign	Het
Tekt2	A	G	4: 126,218,098 (GRCm39)	L138P	probably benign	Het
Tnrc18	A	T	5: 142,717,923 (GRCm39)	M2177K	unknown	Het
Trim43a	T	A	9: 88,464,395 (GRCm39)	I102N	probably damaging	Het
Ugt1a10	C	A	1: 88,143,862 (GRCm39)	H361N	probably damaging	Het
Utrn	C	T	10: 12,317,837 (GRCm39)	C498Y	probably benign	Het
Vmn1r39	A	T	6: 66,781,841 (GRCm39)	V159D	probably damaging	Het
Vmn1r44	A	G	6: 89,870,562 (GRCm39)	T103A	probably benign	Het
Wsb1	A	T	11: 79,139,315 (GRCm39)	V127D	probably damaging	Het
Zfp268	T	A	4: 145,349,459 (GRCm39)	C299S	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
R6931:Tmprss12	UTSW	15	100,183,149 (GRCm39)	missense	probably damaging	0.99
R7914:Tmprss12	UTSW	15	100,183,111 (GRCm39)	missense	probably damaging	1.00
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'- GCAGGAAGGCATGTCAGTC -3'

Posted On

2018-06-06