Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Tmprss11f'

36858

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11f

Ensembl Gene

ENSMUSG00000048764

Gene Name

transmembrane protease, serine 11f

Synonyms

4732406D01Rik

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86669757-86780283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86704870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 16 (I16N)

Ref Sequence

ENSEMBL: ENSMUSP00000112252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116553]

AlphaFold

Q8BHM9

Predicted Effect

probably benign
Transcript: ENSMUST00000116553
AA Change: I16N

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: I16N

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
SEA	56	168	4.62e-2	SMART
low complexity region	192	203	N/A	INTRINSIC
Tryp_SPc	206	433	8.7e-84	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 103,953,675 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,806,657 (GRCm39)	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,763,281 (GRCm39)	V603E	probably damaging	Het
Acsl5	A	G	19: 55,261,238 (GRCm39)	D65G	probably benign	Het
Acss3	T	C	10: 106,859,773 (GRCm39)	Y311C	probably damaging	Het
Ak8	T	G	2: 28,623,868 (GRCm39)	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,546,875 (GRCm39)	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,767,353 (GRCm39)	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atf5	A	G	7: 44,462,821 (GRCm39)	M101T	possibly damaging	Het
Det1	T	C	7: 78,493,765 (GRCm39)	T80A	probably benign	Het
Dpp9	C	T	17: 56,501,404 (GRCm39)		probably benign	Het
Fam13c	A	G	10: 70,370,591 (GRCm39)	R244G	probably damaging	Het
Fat3	A	T	9: 16,158,192 (GRCm39)	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fli1	T	C	9: 32,363,425 (GRCm39)		probably benign	Het
Glb1l2	T	G	9: 26,705,397 (GRCm39)	D151A	probably damaging	Het
Gli2	G	A	1: 118,768,220 (GRCm39)	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,342,751 (GRCm39)	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,365,662 (GRCm39)	V3A	unknown	Het
Irx3	G	A	8: 92,526,708 (GRCm39)	S332F	probably benign	Het
Katnb1	C	T	8: 95,822,286 (GRCm39)	T303M	possibly damaging	Het
Lrrc31	A	T	3: 30,743,383 (GRCm39)	L194Q	probably damaging	Het
Lrrc37a	T	G	11: 103,394,264 (GRCm39)	E387A	probably benign	Het
Mapk14	T	C	17: 28,910,763 (GRCm39)	I17T	probably benign	Het
Mtif2	A	G	11: 29,483,401 (GRCm39)		probably benign	Het
Myo16	A	G	8: 10,619,918 (GRCm39)	T1490A	probably benign	Het
Nfasc	A	G	1: 132,539,333 (GRCm39)	V399A	probably damaging	Het
Nhsl3	A	G	4: 129,117,477 (GRCm39)	S396P	probably damaging	Het
Nobox	T	C	6: 43,284,169 (GRCm39)	K1E	probably null	Het
Nr2c1	A	T	10: 94,017,374 (GRCm39)	M371L	probably benign	Het
Oplah	C	T	15: 76,182,687 (GRCm39)	R924H	probably benign	Het
Or10ak16	C	T	4: 118,750,448 (GRCm39)	T56I	possibly damaging	Het
Or51a10	G	A	7: 103,698,979 (GRCm39)	T194I	probably benign	Het
Pappa2	C	A	1: 158,544,560 (GRCm39)	C1756F	probably damaging	Het
Pdzd8	G	A	19: 59,289,361 (GRCm39)	R680C	probably damaging	Het
Rassf3	G	A	10: 121,253,075 (GRCm39)	T44M	probably benign	Het
Rmnd1	T	C	10: 4,377,693 (GRCm39)		probably null	Het
Rnf126	C	T	10: 79,598,477 (GRCm39)		probably benign	Het
Rnf144b	T	C	13: 47,397,966 (GRCm39)	S299P	probably benign	Het
Ryr2	A	G	13: 11,848,981 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,840,690 (GRCm39)	S511T	probably benign	Het
Slc16a10	G	T	10: 39,916,627 (GRCm39)	S138*	probably null	Het
Slc36a4	A	T	9: 15,645,562 (GRCm39)	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,722,420 (GRCm39)	I84M	probably benign	Het
Spag9	T	C	11: 93,982,579 (GRCm39)		probably benign	Het
Suco	C	T	1: 161,662,419 (GRCm39)	V671I	probably benign	Het
Suox	G	A	10: 128,506,754 (GRCm39)	P425S	probably damaging	Het
Tmem266	T	A	9: 55,344,697 (GRCm39)	V443E	probably benign	Het
Tnik	T	A	3: 28,625,029 (GRCm39)	Y321*	probably null	Het
Tnrc6b	T	C	15: 80,797,524 (GRCm39)	M1357T	probably benign	Het
Tpbg	C	A	9: 85,726,803 (GRCm39)	Y257*	probably null	Het
Usp37	A	T	1: 74,529,266 (GRCm39)	S138T	probably benign	Het
Veph1	T	A	3: 66,162,449 (GRCm39)	R70*	probably null	Het
Vmn2r17	C	T	5: 109,600,747 (GRCm39)	P682S	probably damaging	Het
Vmn2r79	A	C	7: 86,651,611 (GRCm39)	N337H	probably benign	Het
Vstm2b	A	G	7: 40,551,876 (GRCm39)	D68G	probably damaging	Het
Vwa7	G	T	17: 35,236,933 (GRCm39)	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,795,586 (GRCm39)	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Tmprss11f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Tmprss11f	APN	5	86,671,924 (GRCm39)	missense	probably damaging	1.00
IGL01453:Tmprss11f	APN	5	86,692,691 (GRCm39)	nonsense	probably null
IGL02406:Tmprss11f	APN	5	86,681,525 (GRCm39)	missense	probably damaging	1.00
IGL03294:Tmprss11f	APN	5	86,685,966 (GRCm39)	missense	probably damaging	1.00
R0122:Tmprss11f	UTSW	5	86,681,484 (GRCm39)	splice site	probably benign
R0322:Tmprss11f	UTSW	5	86,739,275 (GRCm39)	missense	probably benign	0.06
R1936:Tmprss11f	UTSW	5	86,692,723 (GRCm39)	missense	probably benign	0.23
R2002:Tmprss11f	UTSW	5	86,687,627 (GRCm39)	splice site	probably benign
R2008:Tmprss11f	UTSW	5	86,739,265 (GRCm39)	splice site	probably null
R2260:Tmprss11f	UTSW	5	86,739,269 (GRCm39)	missense	probably benign	0.22
R4109:Tmprss11f	UTSW	5	86,677,795 (GRCm39)	missense	possibly damaging	0.89
R4584:Tmprss11f	UTSW	5	86,687,553 (GRCm39)	critical splice donor site	probably null
R4983:Tmprss11f	UTSW	5	86,685,858 (GRCm39)	missense	probably benign	0.06
R5034:Tmprss11f	UTSW	5	86,739,243 (GRCm39)	intron	probably benign
R5116:Tmprss11f	UTSW	5	86,687,555 (GRCm39)	missense	probably benign	0.01
R5254:Tmprss11f	UTSW	5	86,685,892 (GRCm39)	missense	probably benign	0.00
R5324:Tmprss11f	UTSW	5	86,704,837 (GRCm39)	missense	possibly damaging	0.95
R5410:Tmprss11f	UTSW	5	86,677,965 (GRCm39)	missense	probably damaging	0.99
R5441:Tmprss11f	UTSW	5	86,676,062 (GRCm39)	missense	probably damaging	1.00
R6143:Tmprss11f	UTSW	5	86,687,558 (GRCm39)	missense	probably benign
R6178:Tmprss11f	UTSW	5	86,704,837 (GRCm39)	missense	probably benign	0.00
R6239:Tmprss11f	UTSW	5	86,681,636 (GRCm39)	missense	probably damaging	0.99
R6447:Tmprss11f	UTSW	5	86,676,086 (GRCm39)	missense	probably damaging	1.00
R6817:Tmprss11f	UTSW	5	86,704,793 (GRCm39)	missense	probably benign
R7243:Tmprss11f	UTSW	5	86,677,975 (GRCm39)	missense	probably damaging	1.00
R7314:Tmprss11f	UTSW	5	86,671,912 (GRCm39)	missense	possibly damaging	0.55
R7623:Tmprss11f	UTSW	5	86,672,019 (GRCm39)	missense	probably damaging	1.00
R7708:Tmprss11f	UTSW	5	86,672,028 (GRCm39)	missense	probably damaging	1.00
R7776:Tmprss11f	UTSW	5	86,681,605 (GRCm39)	missense	probably benign	0.21
R7955:Tmprss11f	UTSW	5	86,692,682 (GRCm39)	missense	probably benign	0.13
R8046:Tmprss11f	UTSW	5	86,676,132 (GRCm39)	missense	probably damaging	1.00
R8147:Tmprss11f	UTSW	5	86,677,769 (GRCm39)	missense	probably damaging	1.00
R8209:Tmprss11f	UTSW	5	86,687,566 (GRCm39)	missense	probably damaging	1.00
R8219:Tmprss11f	UTSW	5	86,677,878 (GRCm39)	missense	probably damaging	1.00
R8343:Tmprss11f	UTSW	5	86,681,666 (GRCm39)	missense	probably benign	0.25
R8873:Tmprss11f	UTSW	5	86,692,733 (GRCm39)	missense	probably damaging	0.98
R8889:Tmprss11f	UTSW	5	86,687,618 (GRCm39)	missense	possibly damaging	0.86
R8892:Tmprss11f	UTSW	5	86,687,618 (GRCm39)	missense	possibly damaging	0.86
R9465:Tmprss11f	UTSW	5	86,685,876 (GRCm39)	missense	probably damaging	0.97
Z1176:Tmprss11f	UTSW	5	86,676,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTTGCCTACCAGTGTAGTGCC -3'
(R):5'- TGCTTTCGTTGAGAGTCAAGTAACCC -3'

Sequencing Primer
(F):5'- CTGAGCACACTGTACTTTTACAACG -3'
(R):5'- GTCAAGTAACCCAGTGTTCTTAGC -3'

Posted On

2013-05-09