Mutagenetix > Incidental Mutation

Incidental Mutation 'R1035:Tmprss12'

95565

Institutional Source

Beutler Lab

Gene Symbol

Tmprss12

Ensembl Gene

ENSMUSG00000045631

Gene Name

transmembrane (C-terminal) protease, serine 12

Synonyms

4930478A21Rik

MMRRC Submission

039134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1035 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

100178743-100190943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100183081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 141 (R141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093914 (fasta)

Gene Model

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

AlphaFold

Q3V0Q7

Predicted Effect

probably benign
Transcript: ENSMUST00000096200
AA Change: R141Q

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093914
Gene: ENSMUSG00000045631
AA Change: R141Q

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.4%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Ap3b2	A	T	7: 81,113,659 (GRCm39)	L850Q	unknown	Het
Asxl3	T	C	18: 22,658,106 (GRCm39)	S2039P	probably damaging	Het
Cadm2	A	T	16: 66,612,235 (GRCm39)	M109K	probably damaging	Het
Caskin1	A	G	17: 24,724,011 (GRCm39)	N933S	probably damaging	Het
Cbln4	T	C	2: 171,883,989 (GRCm39)	N77S	possibly damaging	Het
Chek1	A	G	9: 36,627,769 (GRCm39)	I256T	probably damaging	Het
Col5a3	A	T	9: 20,704,795 (GRCm39)		probably benign	Het
Cyp2b10	C	T	7: 25,616,473 (GRCm39)	S360L	probably benign	Het
Dctn1	T	C	6: 83,167,202 (GRCm39)	S222P	probably damaging	Het
Dnah7b	A	G	1: 46,163,608 (GRCm39)	I471V	probably benign	Het
Ear2	A	T	14: 44,340,344 (GRCm39)	M1L	possibly damaging	Het
Entpd6	T	A	2: 150,606,112 (GRCm39)		probably benign	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam98b	C	T	2: 117,101,120 (GRCm39)	R311W	possibly damaging	Het
Ggt7	A	T	2: 155,348,347 (GRCm39)	C102S	probably damaging	Het
Myo15a	T	C	11: 60,401,384 (GRCm39)		probably benign	Het
Nlrp9c	C	T	7: 26,070,702 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,471,302 (GRCm39)	N1234K	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Pcsk1	T	C	13: 75,280,238 (GRCm39)	S688P	probably benign	Het
Polr1a	T	C	6: 71,944,900 (GRCm39)	F1319L	probably benign	Het
Ppig	T	C	2: 69,579,803 (GRCm39)	Y446H	unknown	Het
Spmap2	G	A	10: 79,419,684 (GRCm39)	T182M	probably damaging	Het
Stk17b	T	C	1: 53,801,758 (GRCm39)	T88A	probably benign	Het
Tas2r143	A	T	6: 42,377,199 (GRCm39)	I10F	probably benign	Het
Trpa1	A	G	1: 14,961,527 (GRCm39)		probably null	Het
Txndc16	A	G	14: 45,410,020 (GRCm39)	S187P	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,011 (GRCm39)	I671T	possibly damaging	Het
Zfp78	G	T	7: 6,381,660 (GRCm39)	V237F	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
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
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'- CGCTTACAACTTTGTTGTCAGGCTG -3'
(R):5'- ACCAGGGTTCCTACTTGTGCTTGC -3'

Sequencing Primer
(F):5'- TCAGGCTGATATCTAGGGGAAATG -3'
(R):5'- ccctggatctgatccttcaac -3'

Posted On

2014-01-05