Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Tmprss11d'

366814

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11d

Ensembl Gene

ENSMUSG00000061259

Gene Name

transmembrane protease, serine 11d

Synonyms

AsP

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86450713-86521246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86454140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 222 (V222M)

Ref Sequence

ENSEMBL: ENSMUSP00000113079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031175] [ENSMUST00000122377]

AlphaFold

Q8VHK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031175
AA Change: V360M

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031175
Gene: ENSMUSG00000061259
AA Change: V360M

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
SEA	41	164	4.92e-2	SMART
Tryp_SPc	185	411	1.29e-86	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122377
AA Change: V222M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113079
Gene: ENSMUSG00000061259
AA Change: V222M

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Tryp_SPc	47	273	1.29e-86	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aged female mice homozygous for a knock-in allele exhibit increased lymphoma incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,086,711 (GRCm39)	S570I	probably benign	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	Het

Other mutations in Tmprss11d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02393:Tmprss11d	APN	5	86,451,471 (GRCm39)	makesense	probably null
IGL02519:Tmprss11d	APN	5	86,454,164 (GRCm39)	missense	probably damaging	1.00
IGL02666:Tmprss11d	APN	5	86,479,052 (GRCm39)	missense	probably damaging	1.00
IGL02974:Tmprss11d	APN	5	86,454,235 (GRCm39)	missense	probably damaging	1.00
IGL03305:Tmprss11d	APN	5	86,474,279 (GRCm39)	missense	probably damaging	1.00
R0440:Tmprss11d	UTSW	5	86,486,671 (GRCm39)	missense	probably damaging	0.96
R1261:Tmprss11d	UTSW	5	86,457,239 (GRCm39)	missense	possibly damaging	0.52
R1544:Tmprss11d	UTSW	5	86,486,658 (GRCm39)	missense	probably damaging	1.00
R2018:Tmprss11d	UTSW	5	86,487,413 (GRCm39)	missense	probably damaging	0.97
R2036:Tmprss11d	UTSW	5	86,457,128 (GRCm39)	missense	probably damaging	0.97
R2267:Tmprss11d	UTSW	5	86,521,208 (GRCm39)	missense	probably benign	0.01
R4063:Tmprss11d	UTSW	5	86,457,177 (GRCm39)	missense	probably benign	0.04
R4087:Tmprss11d	UTSW	5	86,457,138 (GRCm39)	missense	probably damaging	1.00
R4665:Tmprss11d	UTSW	5	86,457,260 (GRCm39)	missense	probably damaging	1.00
R4666:Tmprss11d	UTSW	5	86,457,260 (GRCm39)	missense	probably damaging	1.00
R4785:Tmprss11d	UTSW	5	86,454,140 (GRCm39)	missense	probably damaging	0.99
R5077:Tmprss11d	UTSW	5	86,457,122 (GRCm39)	critical splice donor site	probably null
R5201:Tmprss11d	UTSW	5	86,457,214 (GRCm39)	missense	possibly damaging	0.92
R5350:Tmprss11d	UTSW	5	86,486,746 (GRCm39)	missense	probably benign	0.08
R5523:Tmprss11d	UTSW	5	86,486,729 (GRCm39)	missense	probably benign	0.05
R5618:Tmprss11d	UTSW	5	86,454,154 (GRCm39)	missense	probably benign
R5643:Tmprss11d	UTSW	5	86,474,388 (GRCm39)	missense	probably benign	0.00
R5834:Tmprss11d	UTSW	5	86,454,169 (GRCm39)	missense	probably damaging	1.00
R6422:Tmprss11d	UTSW	5	86,457,284 (GRCm39)	missense	probably damaging	1.00
R6706:Tmprss11d	UTSW	5	86,478,962 (GRCm39)	missense	probably benign	0.03
R6735:Tmprss11d	UTSW	5	86,457,159 (GRCm39)	missense	probably damaging	1.00
R6778:Tmprss11d	UTSW	5	86,457,209 (GRCm39)	missense	probably benign	0.34
R7013:Tmprss11d	UTSW	5	86,474,432 (GRCm39)	missense	probably damaging	0.99
R7273:Tmprss11d	UTSW	5	86,485,098 (GRCm39)	missense	probably damaging	1.00
R7488:Tmprss11d	UTSW	5	86,474,309 (GRCm39)	missense	probably damaging	1.00
R7627:Tmprss11d	UTSW	5	86,457,365 (GRCm39)	missense	possibly damaging	0.73
R7742:Tmprss11d	UTSW	5	86,451,493 (GRCm39)	missense	probably damaging	0.98
R7937:Tmprss11d	UTSW	5	86,457,349 (GRCm39)	missense	probably benign	0.06
R8419:Tmprss11d	UTSW	5	86,457,165 (GRCm39)	missense	probably damaging	1.00
R8794:Tmprss11d	UTSW	5	86,486,680 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTTGACTATCCTATAGCAATTAACA -3'
(R):5'- GACTCATAATTTCTGAGGTCTGGT -3'

Sequencing Primer
(F):5'- GCAATTAACAATTGGTATTTTTGTGC -3'
(R):5'- ATAATTTCTGAGGTCTGGTTTCTTTC -3'

Posted On

2015-12-29