Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Tmprss6'

372357

Institutional Source

Beutler Lab

Gene Symbol

Tmprss6

Ensembl Gene

ENSMUSG00000016942

Gene Name

transmembrane serine protease 6

Synonyms

matriptase-2, 1300008A22Rik

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4859 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

78323867-78352834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78330877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 50 (Y50F)

Ref Sequence

ENSEMBL: ENSMUSP00000155414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017086] [ENSMUST00000229124] [ENSMUST00000229516] [ENSMUST00000230020] [ENSMUST00000230159] [ENSMUST00000230226]

AlphaFold

Q9DBI0

Predicted Effect

probably benign
Transcript: ENSMUST00000017086
AA Change: Y452F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: Y452F

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
Pfam:SEA	88	191	3.2e-13	PFAM
CUB	341	452	3.82e-2	SMART
LDLa	457	489	1.33e-2	SMART
LDLa	490	527	2.31e-9	SMART
LDLa	530	568	1.07e-4	SMART
Tryp_SPc	576	806	3.75e-97	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000229124
AA Change: Y50F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000229516
AA Change: Y452F

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

probably damaging
Transcript: ENSMUST00000230159
AA Change: Y452F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230226
AA Change: Y440F

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230473

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(6) Gene trapped(2) Chemically induced(3)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably damaging	Het

Other mutations in Tmprss6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Tmprss6	APN	15	78,326,634 (GRCm39)	missense	probably null	1.00
IGL02474:Tmprss6	APN	15	78,326,536 (GRCm39)	missense	probably damaging	0.99
cubone	UTSW	15	78,330,857 (GRCm39)	splice site	probably null
dilutional	UTSW	15	78,328,328 (GRCm39)	missense	probably damaging	1.00
Ekans	UTSW	15	78,343,627 (GRCm39)	splice site	probably null
mask	UTSW	15	78,464,455 (GRCm38)	intron	probably benign
masquerade	UTSW	15	78,352,200 (GRCm39)	intron	probably benign
zorro	UTSW	15	78,464,552 (GRCm38)	intron	probably benign
BB003:Tmprss6	UTSW	15	78,337,050 (GRCm39)	missense	probably benign	0.28
BB013:Tmprss6	UTSW	15	78,337,050 (GRCm39)	missense	probably benign	0.28
PIT1430001:Tmprss6	UTSW	15	78,324,827 (GRCm39)	missense	probably damaging	1.00
R0285:Tmprss6	UTSW	15	78,337,068 (GRCm39)	missense	probably damaging	0.99
R1857:Tmprss6	UTSW	15	78,336,752 (GRCm39)	missense	probably damaging	1.00
R2432:Tmprss6	UTSW	15	78,349,304 (GRCm39)	splice site	probably benign
R4192:Tmprss6	UTSW	15	78,330,857 (GRCm39)	splice site	probably null
R4226:Tmprss6	UTSW	15	78,330,899 (GRCm39)	missense	probably damaging	1.00
R4227:Tmprss6	UTSW	15	78,330,899 (GRCm39)	missense	probably damaging	1.00
R4334:Tmprss6	UTSW	15	78,343,627 (GRCm39)	splice site	probably null
R4344:Tmprss6	UTSW	15	78,343,627 (GRCm39)	splice site	probably null
R4446:Tmprss6	UTSW	15	78,337,039 (GRCm39)	missense	probably damaging	1.00
R4508:Tmprss6	UTSW	15	78,343,978 (GRCm39)	missense	probably damaging	1.00
R4643:Tmprss6	UTSW	15	78,329,556 (GRCm39)	missense	probably damaging	0.98
R4743:Tmprss6	UTSW	15	78,327,910 (GRCm39)	missense	probably damaging	0.99
R4836:Tmprss6	UTSW	15	78,329,588 (GRCm39)	missense	probably damaging	1.00
R4869:Tmprss6	UTSW	15	78,327,880 (GRCm39)	splice site	probably null
R5197:Tmprss6	UTSW	15	78,338,389 (GRCm39)	missense	probably damaging	1.00
R5212:Tmprss6	UTSW	15	78,330,460 (GRCm39)	missense	probably damaging	0.99
R5225:Tmprss6	UTSW	15	78,336,707 (GRCm39)	missense	probably damaging	0.97
R5569:Tmprss6	UTSW	15	78,324,503 (GRCm39)	missense	probably damaging	1.00
R5572:Tmprss6	UTSW	15	78,326,622 (GRCm39)	missense	probably damaging	1.00
R5669:Tmprss6	UTSW	15	78,339,156 (GRCm39)	missense	possibly damaging	0.86
R5947:Tmprss6	UTSW	15	78,336,722 (GRCm39)	missense	probably damaging	1.00
R6800:Tmprss6	UTSW	15	78,324,457 (GRCm39)	missense	probably damaging	1.00
R6941:Tmprss6	UTSW	15	78,330,977 (GRCm39)	missense	probably damaging	1.00
R6965:Tmprss6	UTSW	15	78,328,328 (GRCm39)	missense	probably damaging	1.00
R7334:Tmprss6	UTSW	15	78,328,017 (GRCm39)	missense	unknown
R7338:Tmprss6	UTSW	15	78,344,019 (GRCm39)	missense	probably damaging	1.00
R7622:Tmprss6	UTSW	15	78,330,926 (GRCm39)	missense	probably benign	0.40
R7926:Tmprss6	UTSW	15	78,337,050 (GRCm39)	missense	probably benign	0.28
R7992:Tmprss6	UTSW	15	78,326,664 (GRCm39)	missense	probably benign	0.11
R8177:Tmprss6	UTSW	15	78,349,327 (GRCm39)	missense	probably benign	0.01
R8792:Tmprss6	UTSW	15	78,328,328 (GRCm39)	missense	probably damaging	1.00
R8881:Tmprss6	UTSW	15	78,327,987 (GRCm39)	makesense	probably null
R9084:Tmprss6	UTSW	15	78,338,417 (GRCm39)	missense	probably damaging	0.98
R9384:Tmprss6	UTSW	15	78,328,302 (GRCm39)	missense	probably damaging	0.99
X0025:Tmprss6	UTSW	15	78,339,295 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ACATGTGACTGCCTACCCAG -3'
(R):5'- TGCATAGGAACCTAGGTTGTTTC -3'

Sequencing Primer
(F):5'- TACCCAGCACATAAAACTACGTG -3'
(R):5'- ATATGCTGAGAGGATCCC -3'

Posted On

2016-03-01