Mutagenetix > Incidental Mutation

Incidental Mutation 'R3436:Tmprss11b'

267185

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11b

Ensembl Gene

ENSMUSG00000035861

Gene Name

transmembrane protease, serine 11B

Synonyms

Tmprss11bnl, 9930019B18Rik

MMRRC Submission

040654-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86657631-86676362 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 86667584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 48 (Y48*)

Ref Sequence

ENSEMBL: ENSMUSP00000042406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038448]

AlphaFold

Q14C59

Predicted Effect

probably null
Transcript: ENSMUST00000038448
AA Change: Y48*

SMART Domains

Protein: ENSMUSP00000042406
Gene: ENSMUSG00000035861
AA Change: Y48*

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:SEA	46	148	2.3e-26	PFAM
Tryp_SPc	184	410	6.19e-89	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	T	C	4: 63,149,484	E163G	probably benign	Het
Angptl3	A	T	4: 99,033,303	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,550,018	N86S	probably benign	Het
Cadps	A	T	14: 12,616,158		probably null	Het
Ccdc146	A	G	5: 21,297,005	S804P	possibly damaging	Het
Cdc20b	T	C	13: 113,078,699	I267T	probably damaging	Het
Cdh8	A	G	8: 99,400,718		probably benign	Het
Dse	G	T	10: 34,152,474	N873K	probably benign	Het
Ehd1	G	T	19: 6,277,014	E14*	probably null	Het
F8	A	G	X: 75,267,424		probably benign	Het
Flnb	T	C	14: 7,942,057	V2345A	probably damaging	Het
Fndc1	T	C	17: 7,750,357	K1559E	probably damaging	Het
Ighg1	T	C	12: 113,329,560	E170G	probably damaging	Het
Kmt2b	G	T	7: 30,576,692	P1794Q	probably damaging	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Med25	C	A	7: 44,885,890	R37L	possibly damaging	Het
Olfr1189	T	A	2: 88,592,104	F100Y	probably damaging	Het
Olfr136	A	G	17: 38,335,432	I92V	probably damaging	Het
Olfr138	G	A	17: 38,275,530	G253D	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
Pkd1l2	T	C	8: 117,040,739	N1271D	probably benign	Het
Plpp2	A	T	10: 79,527,813		probably null	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Prr16	A	G	18: 51,303,123	N225D	probably benign	Het
Pwwp2a	C	T	11: 43,706,188	Q452*	probably null	Het
Slfn2	A	T	11: 83,069,564	H123L	probably benign	Het
Sort1	T	A	3: 108,337,807	I325N	probably damaging	Het
Tmem132e	A	G	11: 82,444,330	Y654C	probably damaging	Het
Tpp2	T	C	1: 43,940,144	I67T	probably damaging	Het
Trdn	G	A	10: 33,468,195		probably null	Het
Trim14	C	T	4: 46,523,739	V100I	possibly damaging	Het
Trim17	T	C	11: 58,965,233	C39R	probably damaging	Het
Trim52	C	T	14: 106,107,307	P133L	possibly damaging	Het
Unc13b	T	C	4: 43,097,028		probably benign	Het
Vmn2r94	G	A	17: 18,258,388		probably benign	Het
Vsig4	A	G	X: 96,290,816	V29A	probably benign	Het
Washc4	T	A	10: 83,570,002	I454N	probably benign	Het
Wnk3	T	A	X: 151,286,304	F886I	probably benign	Het
Ylpm1	T	C	12: 85,049,870		probably null	Het
Zfp507	A	T	7: 35,787,770	Y234N	probably damaging	Het

Other mutations in Tmprss11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Tmprss11b	APN	5	86663517	missense	probably benign
IGL02340:Tmprss11b	APN	5	86662231	missense	probably benign
IGL02500:Tmprss11b	APN	5	86667323	critical splice donor site	probably null
demolished	UTSW	5	86664314	missense	probably damaging	1.00
R0356:Tmprss11b	UTSW	5	86660467	makesense	probably null
R0506:Tmprss11b	UTSW	5	86661640	missense	probably damaging	1.00
R0528:Tmprss11b	UTSW	5	86671894	missense	probably damaging	1.00
R1424:Tmprss11b	UTSW	5	86664973	missense	probably benign	0.09
R1471:Tmprss11b	UTSW	5	86660496	missense	possibly damaging	0.76
R1554:Tmprss11b	UTSW	5	86661631	missense	probably benign	0.01
R3829:Tmprss11b	UTSW	5	86661590	missense	probably damaging	0.98
R4409:Tmprss11b	UTSW	5	86664278	missense	probably benign	0.26
R4495:Tmprss11b	UTSW	5	86665063	nonsense	probably null
R4624:Tmprss11b	UTSW	5	86665036	missense	probably benign	0.04
R4834:Tmprss11b	UTSW	5	86663559	missense	probably damaging	1.00
R5436:Tmprss11b	UTSW	5	86662233	missense	probably benign	0.10
R5812:Tmprss11b	UTSW	5	86665098	missense	possibly damaging	0.67
R6262:Tmprss11b	UTSW	5	86662260	missense	probably benign	0.07
R6882:Tmprss11b	UTSW	5	86671671	splice site	probably null
R6893:Tmprss11b	UTSW	5	86663386	critical splice donor site	probably null
R7312:Tmprss11b	UTSW	5	86664314	missense	probably damaging	1.00
R7771:Tmprss11b	UTSW	5	86661695	splice site	probably null
R8101:Tmprss11b	UTSW	5	86664962	critical splice donor site	probably null
X0067:Tmprss11b	UTSW	5	86662200	missense	probably damaging	1.00
Z1177:Tmprss11b	UTSW	5	86660541	missense	probably damaging	1.00
Z1177:Tmprss11b	UTSW	5	86661613	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAGGCTTCAACCATCTGTTAAGAG -3'
(R):5'- TACACGCACACTTGTACATCAG -3'

Sequencing Primer
(F):5'- TCAACCATCTGTTAAGAGAGAGAAC -3'
(R):5'- TTGTACATCAGACACACAAATCATG -3'

Posted On

2015-02-18