Mutagenetix > Incidental Mutation

Incidental Mutation 'R9761:Tmprss12'

733029

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: 0.062) question?

Stock #

R9761 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100178743-100190943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100190529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 300 (W300R)

Ref Sequence

ENSEMBL: ENSMUSP00000093914 (fasta)

Gene Model

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

AlphaFold

Q3V0Q7

Predicted Effect

probably damaging
Transcript: ENSMUST00000096200
AA Change: W300R

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

SMART Domains

Protein: ENSMUSP00000093914
Gene: ENSMUSG00000045631
AA Change: W300R

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: ENSMUST00000230632

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,544,854 (GRCm39)	T1411I	possibly damaging	Het
Ablim3	C	A	18: 61,952,885 (GRCm39)	R393L	possibly damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Ankrd35	C	T	3: 96,591,733 (GRCm39)	T673I	possibly damaging	Het
Atp11b	A	T	3: 35,903,607 (GRCm39)	K1114*	probably null	Het
Atp11b	C	T	3: 35,903,621 (GRCm39)	P947L	probably benign	Het
Atp11b	G	T	3: 35,903,616 (GRCm39)	D1117Y	probably damaging	Het
Cfap74	C	A	4: 155,550,844 (GRCm39)	H243Q	unknown	Het
Dgkh	A	T	14: 78,889,163 (GRCm39)	S111R	probably damaging	Het
Dpp6	G	A	5: 27,869,743 (GRCm39)	R505K	probably benign	Het
Elp4	C	T	2: 105,624,904 (GRCm39)	G330S	probably damaging	Het
Fsip2	A	T	2: 82,821,994 (GRCm39)	N5909I	probably benign	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gcn1	A	G	5: 115,729,064 (GRCm39)	M792V	probably benign	Het
Gpr152	T	C	19: 4,193,227 (GRCm39)	L256P	probably damaging	Het
Greb1	C	T	12: 16,751,275 (GRCm39)	M1006I	probably benign	Het
Gzf1	C	T	2: 148,530,011 (GRCm39)	S514L	probably damaging	Het
Helz	C	A	11: 107,560,874 (GRCm39)	S1312*	probably null	Het
Hmcn1	T	C	1: 150,868,625 (GRCm39)	I60V	probably damaging	Het
Ift81	A	C	5: 122,729,146 (GRCm39)	D395E	probably benign	Het
Itfg1	T	C	8: 86,563,031 (GRCm39)	N123S	probably benign	Het
Klk1b1	C	A	7: 43,618,739 (GRCm39)	H39N	possibly damaging	Het
Klk1b24	A	T	7: 43,839,779 (GRCm39)	N46I	possibly damaging	Het
Klrg2	C	A	6: 38,607,287 (GRCm39)	W241L	probably damaging	Het
Lhx9	T	C	1: 138,774,934 (GRCm39)	N3S	probably benign	Het
Lrrc2	A	G	9: 110,809,942 (GRCm39)	D326G	possibly damaging	Het
Mansc1	A	T	6: 134,587,004 (GRCm39)	L391Q	probably damaging	Het
Mcidas	G	A	13: 113,135,453 (GRCm39)	R292H	probably benign	Het
Ms4a19	T	C	19: 11,119,754 (GRCm39)	T59A	probably benign	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Or12d13	T	A	17: 37,648,057 (GRCm39)	Q22L	possibly damaging	Het
Or14j7	T	C	17: 38,234,934 (GRCm39)	F159S	probably benign	Het
Or4f53	C	A	2: 111,087,606 (GRCm39)	L49I	probably benign	Het
Or4f53	T	G	2: 111,087,607 (GRCm39)	L49R	possibly damaging	Het
Or8g26	T	C	9: 39,096,146 (GRCm39)	I221T	probably damaging	Het
Or8k20	C	T	2: 86,106,150 (GRCm39)	R227Q	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Poc1b	C	T	10: 98,965,356 (GRCm39)	S95F	probably benign	Het
Pprc1	A	G	19: 46,049,998 (GRCm39)	I104V	unknown	Het
Prkar1b	C	A	5: 139,092,410 (GRCm39)	V136L	probably benign	Het
Scn2a	A	G	2: 65,566,030 (GRCm39)	I1351M	probably damaging	Het
Serpina3c	G	T	12: 104,118,089 (GRCm39)	A83D	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,318,190 (GRCm39)		probably null	Het
Ticrr	A	G	7: 79,345,313 (GRCm39)	E1726G	probably damaging	Het
Tnrc6c	T	A	11: 117,623,136 (GRCm39)	H892Q	probably benign	Het
Tnxb	A	G	17: 34,903,987 (GRCm39)	T1043A	probably benign	Het
Vps50	T	A	6: 3,519,218 (GRCm39)	V100D	probably damaging	Het
Zim1	G	C	7: 6,680,771 (GRCm39)	H297Q	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
R9410:Tmprss12	UTSW	15	100,190,622 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- ATTCACAGAGCAGGTGTCAGC -3'
(R):5'- GCACACAGTGTTCTGGTGTAG -3'

Sequencing Primer
(F):5'- CTCAGCTCTGTGATTGCATAAG -3'
(R):5'- TGTAGACACAGCAGGGGC -3'

Posted On

2022-11-14