Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Tmprss11f'

462789

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11f

Ensembl Gene

ENSMUSG00000048764

Gene Name

transmembrane protease, serine 11f

Synonyms

4732406D01Rik

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

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

Stock #

R5116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86669757-86780283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86687555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 118 (S118G)

Ref Sequence

ENSEMBL: ENSMUSP00000112252 (fasta)

Gene Model

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

AlphaFold

Q8BHM9

Predicted Effect

probably benign
Transcript: ENSMUST00000116553
AA Change: S118G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: S118G

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

0.0959

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,216,930 (GRCm39)	H429R	probably damaging	Het
Adam39	G	T	8: 41,278,038 (GRCm39)	C143F	probably damaging	Het
Adamts19	T	C	18: 59,036,066 (GRCm39)	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,347,069 (GRCm39)	A362E	probably damaging	Het
Akap6	A	G	12: 53,188,298 (GRCm39)	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,541,949 (GRCm39)	M89T	probably benign	Het
Alyref	G	T	11: 120,488,554 (GRCm39)	F91L	probably benign	Het
Capn3	G	T	2: 120,315,773 (GRCm39)	M248I	probably benign	Het
Catsper4	A	T	4: 133,953,991 (GRCm39)	I56N	probably damaging	Het
Cckbr	T	A	7: 105,082,862 (GRCm39)	I75N	probably damaging	Het
Ccr8	T	C	9: 119,923,095 (GRCm39)	I70T	probably benign	Het
Cdh24	T	C	14: 54,873,870 (GRCm39)	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,225,475 (GRCm39)	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,768,770 (GRCm39)	A610T	probably benign	Het
Dnajc16	A	T	4: 141,495,280 (GRCm39)	Y479*	probably null	Het
Fpr-rs3	A	G	17: 20,844,562 (GRCm39)	V193A	probably benign	Het
Gm29125	T	C	1: 80,361,690 (GRCm39)		noncoding transcript	Het
H1f4	A	G	13: 23,806,270 (GRCm39)	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,505,549 (GRCm39)		probably benign	Het
Immp1l	G	A	2: 105,795,640 (GRCm39)	R155H	probably benign	Het
Itgad	C	A	7: 127,803,065 (GRCm39)	T7K	probably damaging	Het
Itgb3	T	C	11: 104,531,903 (GRCm39)	V370A	probably benign	Het
Jak1	A	G	4: 101,012,310 (GRCm39)	I1053T	probably benign	Het
Kif21b	A	G	1: 136,080,521 (GRCm39)	R572G	probably damaging	Het
Lama2	A	T	10: 26,994,556 (GRCm39)	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,856,511 (GRCm39)	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,787,750 (GRCm39)	L100S	probably damaging	Het
Mx1	T	G	16: 97,258,679 (GRCm39)	N6T	possibly damaging	Het
Nde1	T	A	16: 14,001,351 (GRCm39)	M133K	probably benign	Het
Nlrc5	T	C	8: 95,208,488 (GRCm39)	L778P	probably damaging	Het
Odad3	A	G	9: 21,901,424 (GRCm39)	*595Q	probably null	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or5l13	G	A	2: 87,779,873 (GRCm39)	R235C	probably benign	Het
Or6c3b	A	G	10: 129,527,266 (GRCm39)	S215P	probably damaging	Het
Or7g32	A	G	9: 19,389,094 (GRCm39)	S151P	possibly damaging	Het
Or8b38	T	C	9: 37,972,634 (GRCm39)	V6A	probably benign	Het
Otog	T	C	7: 45,923,191 (GRCm39)	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,224,500 (GRCm39)	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,440,798 (GRCm39)	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,881,816 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,776,768 (GRCm39)	F648I	probably benign	Het
Pla2r1	A	C	2: 60,279,250 (GRCm39)	Y777D	probably damaging	Het
Pnpla7	G	T	2: 24,911,982 (GRCm39)	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,325,789 (GRCm39)	E206K	probably damaging	Het
S100a10	A	G	3: 93,468,247 (GRCm39)		probably null	Het
Slc35f1	T	C	10: 52,897,991 (GRCm39)	I134T	probably benign	Het
Smarcd1	C	T	15: 99,600,369 (GRCm39)	A56V	probably benign	Het
Snrk	A	G	9: 121,989,396 (GRCm39)	T247A	probably benign	Het
Srgap1	A	G	10: 121,628,284 (GRCm39)	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,179,651 (GRCm39)	F167I	probably benign	Het
Tnc	A	G	4: 63,885,452 (GRCm39)		probably null	Het
Trem3	T	C	17: 48,556,580 (GRCm39)	L17P	probably benign	Het
Upp2	A	G	2: 58,661,554 (GRCm39)	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het
Zfp932	T	A	5: 110,157,242 (GRCm39)	D280E	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
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
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'- ACCTAACTGCTGAGACTCTGTGG -3'
(R):5'- TCACACAGTGGAAAGCCAGTATG -3'

Sequencing Primer
(F):5'- CTAACTGCTGAGACTCTGTGGTAAAG -3'
(R):5'- AGCCAGTATGCACCATGTG -3'

Posted On

2017-03-03