Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Tmprss11b'

506749

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11b

Ensembl Gene

ENSMUSG00000035861

Gene Name

transmembrane protease, serine 11B

Synonyms

Tmprss11bnl, 9930019B18Rik

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6262 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86806326-86824221 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86810119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 287 (H287R)

Ref Sequence

ENSEMBL: ENSMUSP00000042406 (fasta)

Gene Model

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

AlphaFold

Q14C59

Predicted Effect

probably benign
Transcript: ENSMUST00000038448
AA Change: H287R

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000042406
Gene: ENSMUSG00000035861
AA Change: H287R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,092,917 (GRCm39)	T289I	probably benign	Het
Abca2	T	C	2: 25,334,922 (GRCm39)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 44,022,125 (GRCm39)	N455S	possibly damaging	Het
Art5	C	T	7: 101,747,338 (GRCm39)	G147D	probably benign	Het
Atp5f1a	G	A	18: 77,868,912 (GRCm39)	V429M	probably damaging	Het
Calr4	A	T	4: 109,108,564 (GRCm39)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,841,413 (GRCm39)	S810P	probably benign	Het
Cdh4	A	T	2: 179,439,419 (GRCm39)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,212,606 (GRCm39)	D84G	probably benign	Het
Clasp2	T	A	9: 113,705,420 (GRCm39)		probably null	Het
Cntnap2	T	A	6: 45,037,046 (GRCm39)		probably null	Het
Cntnap4	T	C	8: 113,529,843 (GRCm39)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,011,655 (GRCm39)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,960 (GRCm39)	T10A	probably benign	Het
Dnah11	G	A	12: 117,894,913 (GRCm39)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,772,631 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,784,579 (GRCm39)	M2787K	probably benign	Het
Efr3a	T	C	15: 65,729,323 (GRCm39)	S675P	possibly damaging	Het
Gria1	A	G	11: 57,133,680 (GRCm39)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,810,203 (GRCm39)	M570L	probably benign	Het
Hs2st1	A	G	3: 144,140,374 (GRCm39)	F316L	probably damaging	Het
Hs6st3	A	G	14: 119,376,403 (GRCm39)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,246,997 (GRCm39)	D1108V	probably damaging	Het
Igf1r	T	A	7: 67,653,720 (GRCm39)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,452,615 (GRCm39)	S212P	probably benign	Het
Junb	A	G	8: 85,704,359 (GRCm39)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,092,435 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,366,983 (GRCm39)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,403 (GRCm39)	A1063E	probably benign	Het
Mink1	T	C	11: 70,494,151 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,552 (GRCm39)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,052,214 (GRCm39)	Y991H	probably damaging	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,643,863 (GRCm39)	V88A	probably benign	Het
Nr3c2	A	G	8: 77,635,262 (GRCm39)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,186,225 (GRCm39)	V1329A	probably benign	Het
Or2d36	T	C	7: 106,746,918 (GRCm39)	Y132H	probably damaging	Het
Or5d35	T	C	2: 87,855,738 (GRCm39)	V224A	probably benign	Het
Pcdhb17	T	A	18: 37,619,751 (GRCm39)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Prl8a1	A	T	13: 27,758,126 (GRCm39)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,857,117 (GRCm39)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,732,013 (GRCm39)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,217,527 (GRCm39)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,141,360 (GRCm39)	W569R	probably null	Het
Taco1	A	T	11: 105,962,693 (GRCm39)	K127*	probably null	Het
Tas2r110	T	C	6: 132,845,638 (GRCm39)	I223T	probably damaging	Het
Tex21	A	G	12: 76,259,306 (GRCm39)	I329T	probably damaging	Het
Trim30a	A	G	7: 104,060,741 (GRCm39)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,678,556 (GRCm39)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,606,351 (GRCm39)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,020 (GRCm39)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,926,906 (GRCm39)	M300K	probably benign	Het
Zan	A	T	5: 137,427,747 (GRCm39)		probably null	Het
Zbtb7c	A	G	18: 76,270,413 (GRCm39)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,249,881 (GRCm39)	Y1165C	probably damaging	Het
Zfp326	T	A	5: 106,036,353 (GRCm39)	L88Q	probably damaging	Het
Zfp667	A	G	7: 6,307,973 (GRCm39)	T214A	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
R0356:Tmprss11b	UTSW	5	86,808,326 (GRCm39)	makesense	probably null
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
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

Posted On

2018-03-15