Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Tmprss6'

373273

Institutional Source

Beutler Lab

Gene Symbol

Tmprss6

Ensembl Gene

ENSMUSG00000016942

Gene Name

transmembrane serine protease 6

Synonyms

matriptase-2, 1300008A22Rik

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

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

Stock #

R4836 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78323867-78352834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 78329588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 91 (A91G)

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: A493G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: A493G

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: A91G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229516
AA Change: A493G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

probably damaging
Transcript: ENSMUST00000230159
AA Change: A493G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230226
AA Change: A481G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230473

Meta Mutation Damage Score

0.1083

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jak1	T	C	4: 101,012,263 (GRCm39)	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	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
R4859:Tmprss6	UTSW	15	78,330,877 (GRCm39)	missense	probably damaging	0.99
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'- CAGGGACCATTACAGCAGTAGG -3'
(R):5'- TGACCCTGAACCTCTAATGACC -3'

Sequencing Primer
(F):5'- CAGTAGGTGTTGCTATGACCCC -3'
(R):5'- TCCGATGCCATTGCAAAG -3'

Posted On

2016-03-01