Mutagenetix > Incidental Mutations

Incidental Mutation 'R7334:Tmprss6'

569396

Institutional Source

Beutler Lab

Gene Symbol

Tmprss6

Ensembl Gene

ENSMUSG00000016942

Gene Name

transmembrane serine protease 6

Synonyms

matriptase-2, 1300008A22Rik

MMRRC Submission

Accession Numbers

ENSMUST00000017086; MGI: 1919003

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78439667-78468634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78443817 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 572 (Y572H)

Ref Sequence

ENSEMBL: ENSMUSP00000155549 (fasta)

Gene Model

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

Predicted Effect

silent
Transcript: ENSMUST00000017086

SMART Domains

Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942

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 benign
Transcript: ENSMUST00000229124

Predicted Effect

probably benign
Transcript: ENSMUST00000229516

Predicted Effect

probably benign
Transcript: ENSMUST00000230020

Predicted Effect

unknown
Transcript: ENSMUST00000230159
AA Change: Y572H

Predicted Effect

silent
Transcript: ENSMUST00000230226

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	T	3: 153,939,061	S9*	probably null	Het
Acot10	C	T	15: 20,665,543	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224		probably null	Het
Epb41l5	T	G	1: 119,623,949	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496		probably null	Het
Gm12394	G	A	4: 42,793,856	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982	T364A	probably benign	Het
Shcbp1	A	T	8: 4,741,876	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,754,310	F200C	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825		probably null	Het
St18	G	A	1: 6,802,559	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089	A64G	probably damaging	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009		probably null	Het
Vmn1r58	T	A	7: 5,411,067	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019	C371S	probably damaging	Het

Other mutations in Tmprss6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Tmprss6	APN	15	78442434	missense	probably null	1.00
IGL02474:Tmprss6	APN	15	78442336	missense	probably damaging	0.99
cubone	UTSW	15	78446657	splice site	probably null
ekans	UTSW	15	78459427	splice site	probably null
mask	UTSW	15	78464455	intron	probably benign
masquerade	UTSW	15	78468000	intron	probably benign
zorro	UTSW	15	78464552	intron	probably benign
PIT1430001:Tmprss6	UTSW	15	78440627	missense	probably damaging	1.00
R0285:Tmprss6	UTSW	15	78452868	missense	probably damaging	0.99
R1857:Tmprss6	UTSW	15	78452552	missense	probably damaging	1.00
R2432:Tmprss6	UTSW	15	78465104	splice site	probably benign
R4192:Tmprss6	UTSW	15	78446657	splice site	probably null
R4226:Tmprss6	UTSW	15	78446699	missense	probably damaging	1.00
R4227:Tmprss6	UTSW	15	78446699	missense	probably damaging	1.00
R4334:Tmprss6	UTSW	15	78459427	splice site	probably null
R4344:Tmprss6	UTSW	15	78459427	splice site	probably null
R4446:Tmprss6	UTSW	15	78452839	missense	probably damaging	1.00
R4508:Tmprss6	UTSW	15	78459778	missense	probably damaging	1.00
R4643:Tmprss6	UTSW	15	78445356	missense	probably damaging	0.98
R4743:Tmprss6	UTSW	15	78443710	missense	probably damaging	0.99
R4836:Tmprss6	UTSW	15	78445388	missense	probably damaging	1.00
R4859:Tmprss6	UTSW	15	78446677	missense	probably damaging	0.99
R4869:Tmprss6	UTSW	15	78443680	unclassified	probably null
R5197:Tmprss6	UTSW	15	78454189	missense	probably damaging	1.00
R5212:Tmprss6	UTSW	15	78446260	missense	probably damaging	0.99
R5225:Tmprss6	UTSW	15	78452507	missense	probably damaging	0.97
R5569:Tmprss6	UTSW	15	78440303	missense	probably damaging	1.00
R5572:Tmprss6	UTSW	15	78442422	missense	probably damaging	1.00
R5669:Tmprss6	UTSW	15	78454956	missense	possibly damaging	0.86
R5947:Tmprss6	UTSW	15	78452522	missense	probably damaging	1.00
R6800:Tmprss6	UTSW	15	78440257	missense	probably damaging	1.00
R6941:Tmprss6	UTSW	15	78446777	missense	probably damaging	1.00
R6965:Tmprss6	UTSW	15	78444128	missense	probably damaging	1.00
R7338:Tmprss6	UTSW	15	78459819	missense	probably damaging	1.00
R7622:Tmprss6	UTSW	15	78446726	missense	probably benign	0.40
X0025:Tmprss6	UTSW	15	78455095	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GTGCATGCTGTATCTCCCAC -3'
(R):5'- ACCATGTGTCTGTTCCGTG -3'

Sequencing Primer
(F):5'- ATGCTGTATCTCCCACGGTCC -3'
(R):5'- CATGTGTCTGTTCCGTGCCTAG -3'

Posted On

2019-09-13