Mutagenetix > Incidental Mutation

Incidental Mutation 'R1037:Tmprss11g'

93858

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11g

Ensembl Gene

ENSMUSG00000079451

Gene Name

transmembrane protease, serine 11g

Synonyms

Desc4, 9930032O22Rik

MMRRC Submission

039136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1037 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86633736-86666459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86638606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 294 (V294D)

Ref Sequence

ENSEMBL: ENSMUSP00000115540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134179] [ENSMUST00000140095]

AlphaFold

Q8BZ10

Predicted Effect

probably damaging
Transcript: ENSMUST00000134179
AA Change: V307D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: V307D

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:SEA	48	150	1.5e-25	PFAM
Tryp_SPc	185	411	1.39e-82	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140095
AA Change: V294D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: V294D

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:SEA	45	154	1.3e-19	PFAM
Tryp_SPc	172	398	1.39e-82	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199703

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.1%
10x: 94.3%
20x: 85.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Abca2	T	A	2: 25,328,240 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,875,657 (GRCm39)	N610I	probably benign	Het
Ahnak	T	C	19: 8,984,982 (GRCm39)	F2089L	probably benign	Het
Cacnb1	T	C	11: 97,895,843 (GRCm39)		probably benign	Het
Cep57	T	C	9: 13,730,275 (GRCm39)	I61V	possibly damaging	Het
Ckap5	T	C	2: 91,380,974 (GRCm39)	I110T	probably benign	Het
Clasp2	T	C	9: 113,725,702 (GRCm39)		probably benign	Het
Col11a1	A	C	3: 113,987,801 (GRCm39)	E265A	probably damaging	Het
Cst13	A	G	2: 148,672,251 (GRCm39)		probably benign	Het
Cyp24a1	G	A	2: 170,333,537 (GRCm39)	T272M	probably damaging	Het
Cyp4a14	A	C	4: 115,347,193 (GRCm39)	L415R	probably damaging	Het
Dbnl	T	C	11: 5,746,807 (GRCm39)	F179S	probably damaging	Het
Eepd1	T	C	9: 25,498,079 (GRCm39)	L388P	possibly damaging	Het
Exosc8	G	T	3: 54,640,159 (GRCm39)	A55E	probably damaging	Het
Fam72a	G	A	1: 131,461,557 (GRCm39)	V81I	probably damaging	Het
Fasn	C	T	11: 120,700,277 (GRCm39)	M2182I	probably benign	Het
Fras1	C	T	5: 96,862,322 (GRCm39)	P2234S	probably damaging	Het
Grn	C	A	11: 102,323,896 (GRCm39)	D33E	possibly damaging	Het
Gsap	A	G	5: 21,456,163 (GRCm39)		probably benign	Het
H2bc15	T	A	13: 21,938,417 (GRCm39)	V42E	probably damaging	Het
Hook3	T	C	8: 26,562,378 (GRCm39)	Q229R	possibly damaging	Het
Itgb6	T	C	2: 60,480,412 (GRCm39)	E308G	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,330 (GRCm39)	M319V	probably benign	Het
Mia3	T	C	1: 183,138,698 (GRCm39)	I672M	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlc1	A	G	15: 88,849,664 (GRCm39)	L223P	probably damaging	Het
Mmp21	T	C	7: 133,276,182 (GRCm39)	K554E	probably benign	Het
Nup160	C	T	2: 90,524,246 (GRCm39)	T383I	probably damaging	Het
Opcml	T	A	9: 28,814,595 (GRCm39)	D290E	probably damaging	Het
Or10a3b	T	A	7: 108,445,191 (GRCm39)	T9S	probably benign	Het
Or4a27	T	A	2: 88,559,376 (GRCm39)	D189V	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Or5d38	A	G	2: 87,954,573 (GRCm39)	I252T	probably damaging	Het
Or5k14	T	C	16: 58,693,333 (GRCm39)	Y60C	probably damaging	Het
Palm3	C	A	8: 84,755,901 (GRCm39)	T471K	probably benign	Het
Prl2c5	T	A	13: 13,360,492 (GRCm39)	L50*	probably null	Het
Pzp	T	C	6: 128,496,389 (GRCm39)	N281S	probably benign	Het
Qser1	T	C	2: 104,590,900 (GRCm39)	Y1722C	probably damaging	Het
Ryr3	A	G	2: 112,699,453 (GRCm39)	V879A	probably benign	Het
Sbno1	A	G	5: 124,531,975 (GRCm39)	S736P	possibly damaging	Het
Septin5	G	A	16: 18,441,844 (GRCm39)		probably benign	Het
Slc17a6	A	G	7: 51,298,996 (GRCm39)		probably benign	Het
Spag17	A	T	3: 100,010,433 (GRCm39)	T1976S	probably benign	Het
Swt1	A	T	1: 151,246,320 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,446,688 (GRCm39)	W853R	probably damaging	Het
Thbs1	A	T	2: 117,953,532 (GRCm39)	Q983L	probably damaging	Het
Tmem191	A	G	16: 17,094,347 (GRCm39)		probably benign	Het
Tor1aip2	A	G	1: 155,941,082 (GRCm39)	S463G	probably benign	Het
Trim36	A	G	18: 46,329,385 (GRCm39)		probably benign	Het
Ttc1	A	G	11: 43,621,326 (GRCm39)	V285A	possibly damaging	Het
Uckl1	C	T	2: 181,214,278 (GRCm39)	R303H	possibly damaging	Het
Vwa8	C	A	14: 79,324,094 (GRCm39)	C1132*	probably null	Het

Other mutations in Tmprss11g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Tmprss11g	APN	5	86,640,050 (GRCm39)	missense	probably benign	0.00
IGL01611:Tmprss11g	APN	5	86,638,640 (GRCm39)	missense	probably benign	0.02
IGL02417:Tmprss11g	APN	5	86,638,750 (GRCm39)	missense	probably benign	0.25
IGL02677:Tmprss11g	APN	5	86,640,149 (GRCm39)	missense	probably benign
IGL02832:Tmprss11g	APN	5	86,645,128 (GRCm39)	missense	probably benign	0.23
IGL02887:Tmprss11g	APN	5	86,645,188 (GRCm39)	splice site	probably benign
R0377:Tmprss11g	UTSW	5	86,638,610 (GRCm39)	missense	probably damaging	0.98
R0847:Tmprss11g	UTSW	5	86,638,585 (GRCm39)	missense	probably benign	0.01
R1507:Tmprss11g	UTSW	5	86,647,470 (GRCm39)	missense	probably benign	0.09
R1617:Tmprss11g	UTSW	5	86,647,422 (GRCm39)	missense	probably damaging	0.99
R1955:Tmprss11g	UTSW	5	86,646,391 (GRCm39)	missense	probably damaging	0.99
R2094:Tmprss11g	UTSW	5	86,647,415 (GRCm39)	missense	probably damaging	1.00
R2906:Tmprss11g	UTSW	5	86,640,661 (GRCm39)	intron	probably benign
R4730:Tmprss11g	UTSW	5	86,637,092 (GRCm39)	missense	probably damaging	1.00
R4730:Tmprss11g	UTSW	5	86,637,091 (GRCm39)	nonsense	probably null
R4934:Tmprss11g	UTSW	5	86,644,401 (GRCm39)	missense	probably benign
R4982:Tmprss11g	UTSW	5	86,640,674 (GRCm39)	missense	probably damaging	1.00
R5086:Tmprss11g	UTSW	5	86,644,377 (GRCm39)	missense	possibly damaging	0.65
R5606:Tmprss11g	UTSW	5	86,635,269 (GRCm39)	missense	probably damaging	1.00
R5825:Tmprss11g	UTSW	5	86,646,392 (GRCm39)	missense	probably damaging	0.98
R6291:Tmprss11g	UTSW	5	86,635,281 (GRCm39)	missense	probably damaging	1.00
R6481:Tmprss11g	UTSW	5	86,640,015 (GRCm39)	missense	probably benign	0.20
R6849:Tmprss11g	UTSW	5	86,644,491 (GRCm39)	missense	probably benign	0.01
R6925:Tmprss11g	UTSW	5	86,635,295 (GRCm39)	missense	probably benign	0.00
R6925:Tmprss11g	UTSW	5	86,635,285 (GRCm39)	missense	probably benign	0.09
R7084:Tmprss11g	UTSW	5	86,640,059 (GRCm39)	missense	probably damaging	1.00
R7089:Tmprss11g	UTSW	5	86,637,150 (GRCm39)	missense	probably damaging	0.97
R7190:Tmprss11g	UTSW	5	86,644,491 (GRCm39)	missense	probably benign	0.18
R7352:Tmprss11g	UTSW	5	86,644,401 (GRCm39)	missense	not run
R7432:Tmprss11g	UTSW	5	86,644,366 (GRCm39)	missense	possibly damaging	0.71
R7514:Tmprss11g	UTSW	5	86,645,176 (GRCm39)	missense	probably damaging	1.00
R8198:Tmprss11g	UTSW	5	86,646,352 (GRCm39)	missense	probably benign
R8490:Tmprss11g	UTSW	5	86,639,976 (GRCm39)	critical splice donor site	probably null
R8495:Tmprss11g	UTSW	5	86,640,119 (GRCm39)	missense	probably benign	0.07
R8706:Tmprss11g	UTSW	5	86,644,404 (GRCm39)	missense	probably damaging	1.00
R8730:Tmprss11g	UTSW	5	86,638,837 (GRCm39)	critical splice acceptor site	probably null
R9158:Tmprss11g	UTSW	5	86,637,166 (GRCm39)	missense	probably damaging	1.00
R9224:Tmprss11g	UTSW	5	86,640,003 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACAAGGTATTTCTCACCACCGGG -3'
(R):5'- ATTGTTCACGAGAACTACGCCTCC -3'

Sequencing Primer
(F):5'- CCTGCTGCTTTATGGAAAGAATG -3'
(R):5'- TCCCACAAGCACGACGATG -3'

Posted On

2014-01-05