Mutagenetix > Incidental Mutation

Incidental Mutation 'R9410:Tmprss12'

711771

Institutional Source

Beutler Lab

Gene Symbol

Tmprss12

Ensembl Gene

ENSMUSG00000045631

Gene Name

transmembrane (C-terminal) protease, serine 12

Synonyms

4930478A21Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100178743-100190943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100190622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 331 (I331L)

Ref Sequence

ENSEMBL: ENSMUSP00000093914 (fasta)

Gene Model

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

AlphaFold

Q3V0Q7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096200
AA Change: I331L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093914
Gene: ENSMUSG00000045631
AA Change: I331L

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

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,869,703 (GRCm39)	S772L	probably benign	Het
Ampd2	A	T	3: 107,982,590 (GRCm39)	V722E	probably damaging	Het
Appbp2	A	T	11: 85,106,067 (GRCm39)	F83Y	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
B020004C17Rik	A	T	14: 57,254,273 (GRCm39)	Y132F	possibly damaging	Het
Cnr1	A	G	4: 33,944,973 (GRCm39)	T454A	possibly damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctla4	A	T	1: 60,951,911 (GRCm39)	T147S	probably damaging	Het
Ctsa	T	C	2: 164,677,101 (GRCm39)	L152P	probably damaging	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dsg1a	A	T	18: 20,464,590 (GRCm39)	I362F	possibly damaging	Het
Dzank1	C	T	2: 144,324,050 (GRCm39)		probably null	Het
Ephb2	A	T	4: 136,386,948 (GRCm39)	C760S	probably null	Het
Exoc1	T	A	5: 76,706,989 (GRCm39)	V512E	probably benign	Het
Faiml	C	A	9: 99,111,587 (GRCm39)	K157N	probably benign	Het
Fpr2	C	T	17: 18,113,604 (GRCm39)	T200I	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Hcrtr1	A	T	4: 130,029,514 (GRCm39)	L189Q	probably damaging	Het
Igkv4-62	T	C	6: 69,376,832 (GRCm39)	T84A	probably benign	Het
Krtap2-4	C	A	11: 99,505,437 (GRCm39)	R58L	possibly damaging	Het
Meis1	C	T	11: 18,833,987 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,915,747 (GRCm39)	I422F	probably damaging	Het
Mre11a	G	A	9: 14,716,716 (GRCm39)	V304M	probably damaging	Het
Myo5a	A	G	9: 75,023,496 (GRCm39)	E19G	probably damaging	Het
Ndufa10	A	T	1: 92,367,614 (GRCm39)	Y339N	probably damaging	Het
Odad1	T	C	7: 45,597,821 (GRCm39)	V577A	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,615 (GRCm39)	P949L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plin4	A	G	17: 56,413,995 (GRCm39)	V210A	probably benign	Het
Rnf150	T	C	8: 83,762,722 (GRCm39)	M319T	possibly damaging	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Ruvbl2	G	A	7: 45,071,618 (GRCm39)	Q422*	probably null	Het
Shroom1	C	T	11: 53,354,217 (GRCm39)	R46C	probably damaging	Het
Slc22a2	T	C	17: 12,805,732 (GRCm39)	F161S	probably damaging	Het
Src	T	A	2: 157,311,676 (GRCm39)	M468K	probably damaging	Het
Stag3	T	C	5: 138,297,601 (GRCm39)	F606L	possibly damaging	Het
Stau1	T	C	2: 166,797,038 (GRCm39)	T120A	probably benign	Het
Sulf2	A	C	2: 165,936,444 (GRCm39)	L174R		Het
Sumf1	A	C	6: 108,150,363 (GRCm39)	F156C	probably damaging	Het
Tenm2	T	A	11: 36,032,396 (GRCm39)	D708V	probably damaging	Het
Tnfrsf10b	T	G	14: 70,010,849 (GRCm39)	C85G	probably damaging	Het
Trav10d	C	A	14: 53,048,845 (GRCm39)	Q79K	probably benign	Het
Vmn1r236	T	A	17: 21,507,756 (GRCm39)	Y291*	probably null	Het
Vmn2r115	T	C	17: 23,578,915 (GRCm39)	I796T	possibly damaging	Het
Zfp189	T	A	4: 49,529,942 (GRCm39)	H348Q	possibly damaging	Het
Zfp563	T	A	17: 33,321,320 (GRCm39)	L40Q	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
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
R9761:Tmprss12	UTSW	15	100,190,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAATGTGCTACCTACCGGAAC -3'
(R):5'- TTGGTGCCAAAAGTCACAAC -3'

Sequencing Primer
(F):5'- CACAGCAGATACTTTGTCATGGG -3'
(R):5'- TGGTGCCAAAAGTCACAACTATGTAC -3'

Posted On

2022-05-16