Mutagenetix > Incidental Mutation

Incidental Mutation 'R0356:Tmprss11b'

29819

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11b

Ensembl Gene

ENSMUSG00000035861

Gene Name

transmembrane protease, serine 11B

Synonyms

Tmprss11bnl, 9930019B18Rik

MMRRC Submission

038562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86806326-86824221 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 86808326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 417 (*417Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042406 (fasta)

Gene Model

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

AlphaFold

Q14C59

Predicted Effect

probably null
Transcript: ENSMUST00000038448
AA Change: *417Q

SMART Domains

Protein: ENSMUSP00000042406
Gene: ENSMUSG00000035861
AA Change: *417Q

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: 98.9%
3x: 97.6%
10x: 94.4%
20x: 86.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,418 (GRCm39)		probably benign	Het
Adgrg6	C	T	10: 14,302,642 (GRCm39)	V924M	possibly damaging	Het
Anxa9	A	G	3: 95,215,387 (GRCm39)		probably benign	Het
Ap3d1	G	T	10: 80,563,812 (GRCm39)	S122R	probably damaging	Het
Arhgap5	T	C	12: 52,563,091 (GRCm39)	S21P	probably damaging	Het
Atp13a5	A	G	16: 29,167,573 (GRCm39)		probably benign	Het
AU040320	A	T	4: 126,731,155 (GRCm39)	D618V	probably damaging	Het
Cbfa2t2	T	A	2: 154,373,269 (GRCm39)	D475E	probably benign	Het
Ccdc202	T	A	14: 96,119,801 (GRCm39)	V186E	possibly damaging	Het
Ccdc62	G	A	5: 124,092,811 (GRCm39)	V599I	probably benign	Het
Cenpj	T	C	14: 56,786,953 (GRCm39)	E917G	probably damaging	Het
Cog5	T	C	12: 31,887,180 (GRCm39)		probably benign	Het
Col9a1	T	A	1: 24,224,328 (GRCm39)	L170*	probably null	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnah9	A	G	11: 66,021,388 (GRCm39)		probably null	Het
Drg2	T	A	11: 60,352,407 (GRCm39)	V203E	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fer1l4	T	C	2: 155,865,930 (GRCm39)	Y1586C	probably damaging	Het
Gp6	A	T	7: 4,373,141 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,724,121 (GRCm39)	I374V	probably benign	Het
Hspa12b	G	T	2: 130,986,719 (GRCm39)	V547L	possibly damaging	Het
Iars1	G	A	13: 49,856,709 (GRCm39)	V321I	probably benign	Het
Itga8	T	C	2: 12,187,532 (GRCm39)	M716V	possibly damaging	Het
Lcn5	T	C	2: 25,550,705 (GRCm39)	I131T	probably damaging	Het
Mki67	G	A	7: 135,306,135 (GRCm39)	T614M	probably benign	Het
Mmp3	G	A	9: 7,451,768 (GRCm39)	E369K	probably benign	Het
Myt1l	A	G	12: 29,861,500 (GRCm39)	D94G	unknown	Het
Neil1	T	C	9: 57,054,180 (GRCm39)	I47V	possibly damaging	Het
Nr5a2	T	C	1: 136,773,430 (GRCm39)	N424S	possibly damaging	Het
Or1e21	A	T	11: 73,344,906 (GRCm39)	I44N	possibly damaging	Het
Or51f5	A	T	7: 102,424,286 (GRCm39)	D185V	probably damaging	Het
Or5b120	A	G	19: 13,480,441 (GRCm39)	T245A	possibly damaging	Het
Or7e166	G	T	9: 19,624,743 (GRCm39)	G207C	probably damaging	Het
Pakap	C	A	4: 57,855,628 (GRCm39)	T360K	possibly damaging	Het
Pde8b	G	T	13: 95,182,962 (GRCm39)	N265K	probably damaging	Het
Prpf40b	T	C	15: 99,203,080 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,309 (GRCm39)	N175D	possibly damaging	Het
Srgap1	A	T	10: 121,691,441 (GRCm39)		probably null	Het
Tgm5	T	A	2: 120,884,055 (GRCm39)	T313S	probably damaging	Het
Tigar	A	G	6: 127,068,145 (GRCm39)		probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Ttll11	T	C	2: 35,792,688 (GRCm39)	D385G	possibly damaging	Het
Zfp426	T	C	9: 20,382,541 (GRCm39)	T135A	probably benign	Het

Other mutations in Tmprss11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Tmprss11b	APN	5	86,811,376 (GRCm39)	missense	probably benign
IGL02340:Tmprss11b	APN	5	86,810,090 (GRCm39)	missense	probably benign
IGL02500:Tmprss11b	APN	5	86,815,182 (GRCm39)	critical splice donor site	probably null
demolished	UTSW	5	86,812,173 (GRCm39)	missense	probably damaging	1.00
R0506:Tmprss11b	UTSW	5	86,809,499 (GRCm39)	missense	probably damaging	1.00
R0528:Tmprss11b	UTSW	5	86,819,753 (GRCm39)	missense	probably damaging	1.00
R1424:Tmprss11b	UTSW	5	86,812,832 (GRCm39)	missense	probably benign	0.09
R1471:Tmprss11b	UTSW	5	86,808,355 (GRCm39)	missense	possibly damaging	0.76
R1554:Tmprss11b	UTSW	5	86,809,490 (GRCm39)	missense	probably benign	0.01
R3436:Tmprss11b	UTSW	5	86,815,443 (GRCm39)	nonsense	probably null
R3829:Tmprss11b	UTSW	5	86,809,449 (GRCm39)	missense	probably damaging	0.98
R4409:Tmprss11b	UTSW	5	86,812,137 (GRCm39)	missense	probably benign	0.26
R4495:Tmprss11b	UTSW	5	86,812,922 (GRCm39)	nonsense	probably null
R4624:Tmprss11b	UTSW	5	86,812,895 (GRCm39)	missense	probably benign	0.04
R4834:Tmprss11b	UTSW	5	86,811,418 (GRCm39)	missense	probably damaging	1.00
R5436:Tmprss11b	UTSW	5	86,810,092 (GRCm39)	missense	probably benign	0.10
R5812:Tmprss11b	UTSW	5	86,812,957 (GRCm39)	missense	possibly damaging	0.67
R6262:Tmprss11b	UTSW	5	86,810,119 (GRCm39)	missense	probably benign	0.07
R6882:Tmprss11b	UTSW	5	86,819,530 (GRCm39)	splice site	probably null
R6893:Tmprss11b	UTSW	5	86,811,245 (GRCm39)	critical splice donor site	probably null
R7312:Tmprss11b	UTSW	5	86,812,173 (GRCm39)	missense	probably damaging	1.00
R7771:Tmprss11b	UTSW	5	86,809,554 (GRCm39)	splice site	probably null
R8101:Tmprss11b	UTSW	5	86,812,821 (GRCm39)	critical splice donor site	probably null
X0067:Tmprss11b	UTSW	5	86,810,059 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmprss11b	UTSW	5	86,809,472 (GRCm39)	missense	probably benign	0.13
Z1177:Tmprss11b	UTSW	5	86,808,400 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATGGGCTGATGGGCATACAAG -3'
(R):5'- ACCAGTACTAATGGTGGTTCGGGG -3'

Sequencing Primer
(F):5'- catccttagaagacagaaatagcc -3'
(R):5'- AAGCCAGGGGTCTATATGAGAG -3'

Posted On

2013-04-24