Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Tmprss6'

376451

Institutional Source

Beutler Lab

Gene Symbol

Tmprss6

Ensembl Gene

ENSMUSG00000016942

Gene Name

transmembrane serine protease 6

Synonyms

matriptase-2, 1300008A22Rik

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R4869 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

78323867-78352834 bp(-) (GRCm39)

Type of Mutation

splice site (105 bp from exon)

DNA Base Change (assembly)

T to A at 78327880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017086] [ENSMUST00000089414] [ENSMUST00000159771] [ENSMUST00000166142] [ENSMUST00000229124] [ENSMUST00000229516] [ENSMUST00000230020] [ENSMUST00000230226] [ENSMUST00000230159]

AlphaFold

Q9DBI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000017086
AA Change: D622V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: D622V

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 benign
Transcript: ENSMUST00000089414

SMART Domains

Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
BTB	31	132	1.76e-16	SMART
coiled coil region	208	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159771

SMART Domains

Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	5	23	N/A	INTRINSIC
BTB	24	125	1.76e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166142

SMART Domains

Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287

Domain	Start	End	E-Value	Type
low complexity region	12	30	N/A	INTRINSIC
BTB	31	132	1.76e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000229124

Predicted Effect

probably benign
Transcript: ENSMUST00000229516

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

probably damaging
Transcript: ENSMUST00000230226
AA Change: D610V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably null
Transcript: ENSMUST00000230159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230473

Meta Mutation Damage Score

0.5493

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly 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
R4859:Tmprss6	UTSW	15	78,330,877 (GRCm39)	missense	probably damaging	0.99
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'- CCATTGGCATGTAGGAGGAGTG -3'
(R):5'- TATCAGACTGTGGCCTCCAG -3'

Sequencing Primer
(F):5'- TGGTCTCATCTTAAAGCAAGAGG -3'
(R):5'- GGGCCTCTCCAGCCGTATTG -3'

Posted On

2016-03-17