Mutagenetix > Incidental Mutation

Incidental Mutation 'R2910:Tmeff1'

261179

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

040497-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48585174-48663131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48614961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 139 (N139K)

Gene Model

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

AlphaFold

Q6PFE7

Predicted Effect

probably benign
Transcript: ENSMUST00000030032
AA Change: N139K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030032
Gene: ENSMUSG00000028347
AA Change: N139K

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

possibly damaging
Transcript: ENSMUST00000107703
AA Change: N139K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103331
Gene: ENSMUSG00000028347
AA Change: N139K

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 benign
Transcript: ENSMUST00000123476
AA Change: N139K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115841
Gene: ENSMUSG00000028347
AA Change: N139K

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

possibly damaging
Transcript: ENSMUST00000130834
AA Change: N112K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121740
Gene: ENSMUSG00000028347
AA Change: N112K

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,378,982 (GRCm39)	T645A	probably damaging	Het
Acap1	A	G	11: 69,777,902 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,705,238 (GRCm39)	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,069,586 (GRCm39)	N121D	probably benign	Het
Ahnak	A	G	19: 8,989,018 (GRCm39)	D3434G	probably damaging	Het
Ankrd11	A	T	8: 123,635,537 (GRCm39)	D32E	probably damaging	Het
Asxl1	T	C	2: 153,242,959 (GRCm39)	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,355,746 (GRCm39)	S1322F	possibly damaging	Het
Car15	G	A	16: 17,656,006 (GRCm39)		probably benign	Het
Cep104	T	A	4: 154,079,884 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,458,086 (GRCm39)	I633V	possibly damaging	Het
Cog8	A	T	8: 107,780,853 (GRCm39)	V135E	probably benign	Het
Cts6	A	G	13: 61,344,215 (GRCm39)	V279A	probably damaging	Het
Ddx1	C	T	12: 13,281,441 (GRCm39)		probably null	Het
Dock2	A	G	11: 34,182,910 (GRCm39)		probably benign	Het
Ero1b	T	A	13: 12,615,178 (GRCm39)	D336E	probably damaging	Het
F11	C	G	8: 45,694,486 (GRCm39)	*625S	probably null	Het
F5	A	G	1: 164,032,389 (GRCm39)	M1779V	probably benign	Het
Fam227a	A	T	15: 79,520,935 (GRCm39)	D296E	possibly damaging	Het
Fbxo38	T	C	18: 62,652,878 (GRCm39)	D523G	probably benign	Het
Ggt1	G	A	10: 75,416,430 (GRCm39)	V275M	probably benign	Het
Gm379	A	C	X: 107,708,371 (GRCm39)	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,286,457 (GRCm39)	I75V	probably benign	Het
Iqcm	A	T	8: 76,441,404 (GRCm39)	I226F	probably benign	Het
Kcnq1	T	G	7: 142,979,699 (GRCm39)	L615R	probably damaging	Het
Lcp2	G	A	11: 34,018,970 (GRCm39)		probably null	Het
Lypd8l	G	A	11: 58,499,252 (GRCm39)	Q189*	probably null	Het
Mbtps1	A	G	8: 120,272,776 (GRCm39)	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,361,378 (GRCm39)	T1563I	probably damaging	Het
Odf2l	A	C	3: 144,830,084 (GRCm39)	I19L	probably benign	Het
Or5ak23	T	A	2: 85,244,695 (GRCm39)	H176L	probably damaging	Het
Or5h25	C	T	16: 58,930,544 (GRCm39)	R143H	probably benign	Het
Pigr	A	G	1: 130,777,270 (GRCm39)	D692G	probably damaging	Het
Pkd1l3	A	G	8: 110,394,268 (GRCm39)		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Reep2	T	C	18: 34,978,743 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,278,248 (GRCm39)	T344I	probably benign	Het
Sema6d	C	A	2: 124,506,957 (GRCm39)	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,304,372 (GRCm39)	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,289,067 (GRCm39)	E60G	probably benign	Het
Snx2	C	T	18: 53,332,946 (GRCm39)	P207S	probably damaging	Het
Spata31	T	G	13: 65,068,250 (GRCm39)	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097 (GRCm39)		probably null	Het
Tfpi	A	C	2: 84,274,437 (GRCm39)	V184G	possibly damaging	Het
Tnxb	A	G	17: 34,891,424 (GRCm39)	D589G	probably damaging	Het
Trpc1	C	A	9: 95,631,895 (GRCm39)	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,498,946 (GRCm39)	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,055,918 (GRCm39)	A740D	probably 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
R2852:Tmeff1	UTSW	4	48,604,692 (GRCm39)	critical splice donor site	probably null
R2897:Tmeff1	UTSW	4	48,658,831 (GRCm39)	nonsense	probably null
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'- ATGATCCTGGATGCCATAGGG -3'
(R):5'- ATGGTGTCAGAGTTTTATCTCAGCG -3'

Sequencing Primer
(F):5'- GTAAGAGCACCCGACTGTTC -3'
(R):5'- CTCAGCGTTGTTAAATATCAAAGGAG -3'

Posted On

2015-01-23