Mutagenetix > Incidental Mutation

Incidental Mutation 'R8147:Tmprss11f'

632848

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11f

Ensembl Gene

ENSMUSG00000048764

Gene Name

transmembrane protease, serine 11f

Synonyms

4732406D01Rik

MMRRC Submission

067575-MU

Accession Numbers

Essential gene?

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

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86669757-86780283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86677769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 333 (F333L)

Ref Sequence

ENSEMBL: ENSMUSP00000112252 (fasta)

Gene Model

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

AlphaFold

Q8BHM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000116553
AA Change: F333L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: F333L

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,562,876 (GRCm39)	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,184,949 (GRCm39)	I287N	probably damaging	Het
Aox1	T	A	1: 58,339,821 (GRCm39)	N371K	probably benign	Het
Atr	T	A	9: 95,781,113 (GRCm39)	F1392L	probably damaging	Het
Bicra	G	A	7: 15,722,395 (GRCm39)	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,569,188 (GRCm39)	R912Q	probably damaging	Het
Cdhr1	T	C	14: 36,801,609 (GRCm39)	N778S	probably benign	Het
Cert1	C	T	13: 96,679,736 (GRCm39)	P22L	probably benign	Het
Dgat2	C	T	7: 98,806,187 (GRCm39)	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,208,395 (GRCm39)	D937G	probably benign	Het
Dqx1	T	C	6: 83,037,222 (GRCm39)	V295A	probably benign	Het
Dsg3	A	G	18: 20,673,130 (GRCm39)	T934A	probably benign	Het
Fam81b	A	C	13: 76,383,140 (GRCm39)	V243G	probably damaging	Het
Gen1	A	T	12: 11,305,051 (GRCm39)		probably null	Het
Glrx3	G	A	7: 137,064,736 (GRCm39)	S275N	probably benign	Het
Igdcc4	A	T	9: 65,031,253 (GRCm39)	Q397L	probably benign	Het
Ints6	C	T	14: 62,951,186 (GRCm39)	G281D	probably damaging	Het
Kalrn	A	T	16: 33,875,414 (GRCm39)	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,111,829 (GRCm39)	D567G	probably damaging	Het
Macf1	A	G	4: 123,385,491 (GRCm39)	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,129,734 (GRCm39)	R434C	probably damaging	Het
Mia3	A	T	1: 183,109,062 (GRCm39)	F358I		Het
Ncapd3	C	T	9: 26,942,014 (GRCm39)		probably benign	Het
Nfkb2	A	G	19: 46,295,873 (GRCm39)	R156G	possibly damaging	Het
Nus1	T	C	10: 52,305,416 (GRCm39)		probably null	Het
Or2y14	C	T	11: 49,405,050 (GRCm39)	T195I	probably benign	Het
Or4a79	T	A	2: 89,552,186 (GRCm39)	I90F	probably damaging	Het
Or4c31	T	C	2: 88,292,427 (GRCm39)	F267L	possibly damaging	Het
Or5aq1b	T	A	2: 86,902,017 (GRCm39)	I154F	probably benign	Het
Pafah1b2	A	G	9: 45,895,147 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,826,842 (GRCm39)	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,801,680 (GRCm39)	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,695,564 (GRCm39)	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,153,283 (GRCm39)	V293A	probably damaging	Het
Rpl18a	G	T	8: 71,348,069 (GRCm39)	T174N	probably damaging	Het
Senp5	A	T	16: 31,808,128 (GRCm39)	H375Q	probably benign	Het
Setbp1	A	T	18: 78,900,015 (GRCm39)	F1217L	probably damaging	Het
Skint4	A	G	4: 111,993,218 (GRCm39)	I314V	probably benign	Het
Slc28a2	A	G	2: 122,288,682 (GRCm39)	D596G	probably benign	Het
Stat5b	A	G	11: 100,688,607 (GRCm39)	I285T	probably benign	Het
Sycp3	T	C	10: 88,298,467 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,770,718 (GRCm39)	F270L	probably damaging	Het
Taar5	T	C	10: 23,846,749 (GRCm39)	V49A	probably damaging	Het
Tbx18	C	T	9: 87,606,411 (GRCm39)	V245I	probably damaging	Het
Tet1	A	G	10: 62,714,586 (GRCm39)	M403T	probably benign	Het
Tnpo3	T	C	6: 29,589,213 (GRCm39)	I46V	probably benign	Het
Traf5	G	T	1: 191,746,984 (GRCm39)	N112K	probably damaging	Het
Trim12c	A	T	7: 103,991,165 (GRCm39)	M263K	unknown	Het
Trim55	A	G	3: 19,727,011 (GRCm39)	I359M	probably benign	Het
Utp20	A	T	10: 88,594,306 (GRCm39)	W2140R	probably benign	Het
Vgll3	T	C	16: 65,624,964 (GRCm39)	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,605,227 (GRCm39)	G474*	probably null	Het
Vps18	G	A	2: 119,123,237 (GRCm39)	A98T	probably benign	Het
Zfand4	T	A	6: 116,291,169 (GRCm39)	S387T	probably damaging	Het
Zfp808	A	G	13: 62,320,934 (GRCm39)	Y721C	probably damaging	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
R0418:Tmprss11f	UTSW	5	86,704,870 (GRCm39)	missense	probably benign	0.16
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
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'- CACATATGAATATGGGTACAAGTGC -3'
(R):5'- ACGAAGTGTTGGGAAGATTATCATCC -3'

Sequencing Primer
(F):5'- AGGGTGTCTCACTGAATATGGAC -3'
(R):5'- TTATCATCCATGAAGAGTACCACAG -3'

Posted On

2020-06-30