Mutagenetix > Incidental Mutation

Incidental Mutation 'R2852:Tmeff1'

252289

Institutional Source

Beutler Lab

Gene Symbol

Tmeff1

Ensembl Gene

ENSMUSG00000028347

Gene Name

transmembrane protein with EGF-like and two follistatin-like domains 1

Synonyms

tomoregulin-like, M7365

MMRRC Submission

040445-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R2852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48585174-48663131 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 48604692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030032] [ENSMUST00000123476] [ENSMUST00000130834]

AlphaFold

Q6PFE7

Predicted Effect

probably null
Transcript: ENSMUST00000030032

SMART Domains

Protein: ENSMUSP00000030032
Gene: ENSMUSG00000028347

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
KAZAL	90	135	6.19e-19	SMART
low complexity region	140	155	N/A	INTRINSIC
KAZAL	181	227	4.92e-13	SMART
EGF	266	303	1.33e-1	SMART
transmembrane domain	322	344	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000103331
Gene: ENSMUSG00000028347

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
KAZAL	90	135	6.19e-19	SMART
low complexity region	140	156	N/A	INTRINSIC
KAZAL	182	228	4.92e-13	SMART
EGF	267	304	1.33e-1	SMART
transmembrane domain	323	345	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123476

SMART Domains

Protein: ENSMUSP00000115841
Gene: ENSMUSG00000028347

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
KAZAL	90	135	6.19e-19	SMART
low complexity region	140	155	N/A	INTRINSIC
KAZAL	181	227	4.92e-13	SMART
EGF	266	303	1.33e-1	SMART
transmembrane domain	322	344	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130834

SMART Domains

Protein: ENSMUSP00000121740
Gene: ENSMUSG00000028347

Domain	Start	End	E-Value	Type
low complexity region	15	25	N/A	INTRINSIC
KAZAL	63	108	6.19e-19	SMART
low complexity region	113	129	N/A	INTRINSIC
KAZAL	155	201	4.92e-13	SMART
EGF	240	277	1.33e-1	SMART
transmembrane domain	296	318	N/A	INTRINSIC

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Catsperd	A	G	17: 56,967,169 (GRCm39)		probably null	Het
Cblc	A	G	7: 19,514,889 (GRCm39)		probably null	Het
Cfap54	T	C	10: 92,776,017 (GRCm39)	Y48C	probably damaging	Het
Chrng	A	G	1: 87,134,428 (GRCm39)	I156M	probably benign	Het
Dennd5a	A	T	7: 109,532,878 (GRCm39)	N297K	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Egflam	A	T	15: 7,249,182 (GRCm39)	W879R	probably damaging	Het
Ehbp1l1	T	A	19: 5,766,515 (GRCm39)	D332V	probably damaging	Het
Far1	T	C	7: 113,152,944 (GRCm39)	Y351H	possibly damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Kap	T	C	6: 133,827,057 (GRCm39)	K92E	probably benign	Het
Kcnv2	T	C	19: 27,300,496 (GRCm39)	Y116H	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Krtap13	T	C	16: 88,548,524 (GRCm39)		probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mrln	T	C	10: 70,055,456 (GRCm39)	I44T	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Oosp3	T	A	19: 11,676,896 (GRCm39)		probably null	Het
Pah	T	A	10: 87,403,327 (GRCm39)	L131Q	probably damaging	Het
Pde6h	G	A	6: 136,940,206 (GRCm39)	C64Y	probably damaging	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Prkdc	T	C	16: 15,470,416 (GRCm39)		probably null	Het
Rnf168	A	G	16: 32,101,192 (GRCm39)	E124G	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Stx5a	T	C	19: 8,732,476 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Vmn2r85	T	A	10: 130,255,035 (GRCm39)	M550L	probably benign	Het
Zfp14	A	G	7: 29,738,596 (GRCm39)	Y130H	probably benign	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Tmeff1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Tmeff1	APN	4	48,610,435 (GRCm39)	missense	probably damaging	1.00
R0466:Tmeff1	UTSW	4	48,636,853 (GRCm39)	missense	possibly damaging	0.94
R1900:Tmeff1	UTSW	4	48,658,938 (GRCm39)	splice site	probably benign
R1926:Tmeff1	UTSW	4	48,658,788 (GRCm39)	missense	probably damaging	1.00
R1945:Tmeff1	UTSW	4	48,614,960 (GRCm39)	missense	possibly damaging	0.58
R2504:Tmeff1	UTSW	4	48,662,059 (GRCm39)	missense	possibly damaging	0.91
R2520:Tmeff1	UTSW	4	48,604,679 (GRCm39)	missense	probably damaging	1.00
R2851:Tmeff1	UTSW	4	48,604,692 (GRCm39)	critical splice donor site	probably null
R2897:Tmeff1	UTSW	4	48,658,831 (GRCm39)	nonsense	probably null
R2910:Tmeff1	UTSW	4	48,614,961 (GRCm39)	missense	possibly damaging	0.77
R4700:Tmeff1	UTSW	4	48,636,869 (GRCm39)	missense	possibly damaging	0.86
R5504:Tmeff1	UTSW	4	48,650,396 (GRCm39)	missense	probably damaging	1.00
R7383:Tmeff1	UTSW	4	48,636,841 (GRCm39)	missense	probably damaging	1.00
R7389:Tmeff1	UTSW	4	48,617,097 (GRCm39)	splice site	probably null
R9617:Tmeff1	UTSW	4	48,636,940 (GRCm39)	missense	probably damaging	1.00
R9783:Tmeff1	UTSW	4	48,662,005 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGATGCCTAGTACATTTGTGC -3'
(R):5'- TGCACACCTATCACGGTCAG -3'

Sequencing Primer
(F):5'- TTTGTGCTTTTATTAATCTGTGTACG -3'
(R):5'- ACACCTATCACGGTCAGTCTGTC -3'

Posted On

2014-12-04