Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00909:Teddm1b'

26618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Teddm1b

Ensembl Gene

ENSMUSG00000043282

Gene Name

transmembrane epididymal protein 1B

Synonyms

Gm5531

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL00909

Quality Score

Status

Chromosome

Chromosomal Location

153750091-153752617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153750391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 67 (S67P)

Ref Sequence

ENSEMBL: ENSMUSP00000058437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055314] [ENSMUST00000123490]

AlphaFold

Q8CC62

Predicted Effect

probably damaging
Transcript: ENSMUST00000055314
AA Change: S67P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: S67P

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
Pfam:DUF716	127	247	3.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123490

SMART Domains

Protein: ENSMUSP00000115023
Gene: ENSMUSG00000045968

Domain	Start	End	E-Value	Type
Pfam:DUF716	71	195	6.1e-36	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,220,250 (GRCm39)	D94V	possibly damaging	Het
Adamts20	T	C	15: 94,277,694 (GRCm39)	Y256C	probably damaging	Het
Ajm1	A	G	2: 25,469,419 (GRCm39)	L164P	probably damaging	Het
Ampd1	A	C	3: 102,995,744 (GRCm39)	D218A	probably benign	Het
Arcn1	T	C	9: 44,662,651 (GRCm39)	N332D	probably damaging	Het
Arpp21	T	A	9: 112,005,191 (GRCm39)	I219F	probably damaging	Het
Bicra	A	T	7: 15,730,502 (GRCm39)	D5E	possibly damaging	Het
Birc2	A	C	9: 7,833,666 (GRCm39)	W272G	probably damaging	Het
Cd2ap	A	T	17: 43,141,005 (GRCm39)		probably benign	Het
Celsr1	G	A	15: 85,806,436 (GRCm39)	R974W	probably damaging	Het
Col4a2	A	C	8: 11,498,167 (GRCm39)	T1659P	possibly damaging	Het
Coq9	C	T	8: 95,578,530 (GRCm39)	L215F	possibly damaging	Het
Cped1	A	G	6: 22,122,426 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,430,282 (GRCm39)	D64V	probably damaging	Het
Gga3	T	A	11: 115,482,567 (GRCm39)	R105W	probably damaging	Het
Hmcn1	C	T	1: 150,514,620 (GRCm39)	R3584Q	probably benign	Het
Hs6st3	T	A	14: 119,376,446 (GRCm39)	L207Q	probably damaging	Het
Ift43	A	G	12: 86,208,807 (GRCm39)	E141G	probably damaging	Het
Mrps31	T	G	8: 22,917,841 (GRCm39)	F287V	probably damaging	Het
Naca	A	G	10: 127,877,551 (GRCm39)		probably benign	Het
Nrf1	C	T	6: 30,098,477 (GRCm39)	T135M	probably damaging	Het
Or5p81	A	G	7: 108,266,907 (GRCm39)	I95V	possibly damaging	Het
Pfas	A	T	11: 68,894,640 (GRCm39)	Y8*	probably null	Het
Ppip5k1	G	A	2: 121,177,839 (GRCm39)	R323W	probably damaging	Het
Rasal1	A	G	5: 120,802,872 (GRCm39)	E376G	probably damaging	Het
Rfc1	A	G	5: 65,437,042 (GRCm39)	L546P	probably benign	Het
Rheb	A	T	5: 25,012,073 (GRCm39)	I129N	probably damaging	Het
Scpep1	A	T	11: 88,843,303 (GRCm39)	F52I	probably damaging	Het
Six2	A	T	17: 85,995,319 (GRCm39)	L21Q	probably damaging	Het
Slit1	G	T	19: 41,590,694 (GRCm39)	T1326K	possibly damaging	Het
Spata2l	T	C	8: 123,960,716 (GRCm39)	D191G	possibly damaging	Het
Susd4	C	A	1: 182,719,552 (GRCm39)	A389D	probably damaging	Het
Tcaf2	A	T	6: 42,601,510 (GRCm39)	F850I	probably damaging	Het
Tiparp	T	A	3: 65,439,530 (GRCm39)	V100D	probably damaging	Het
Zdhhc14	A	G	17: 5,803,067 (GRCm39)	H390R	probably benign	Het

Other mutations in Teddm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Teddm1b	APN	1	153,750,340 (GRCm39)	missense	possibly damaging	0.65
IGL02601:Teddm1b	APN	1	153,750,362 (GRCm39)	missense	probably damaging	0.99
R0551:Teddm1b	UTSW	1	153,751,090 (GRCm39)	missense	possibly damaging	0.66
R0815:Teddm1b	UTSW	1	153,750,638 (GRCm39)	missense	possibly damaging	0.83
R3441:Teddm1b	UTSW	1	153,751,007 (GRCm39)	missense	probably benign	0.00
R6220:Teddm1b	UTSW	1	153,750,947 (GRCm39)	nonsense	probably null
R6351:Teddm1b	UTSW	1	153,750,505 (GRCm39)	missense	probably benign	0.01
R6900:Teddm1b	UTSW	1	153,750,956 (GRCm39)	missense	probably benign	0.03
R7135:Teddm1b	UTSW	1	153,750,912 (GRCm39)	missense	probably damaging	1.00
R7171:Teddm1b	UTSW	1	153,750,679 (GRCm39)	missense	probably damaging	0.98
R8552:Teddm1b	UTSW	1	153,750,194 (GRCm39)	start codon destroyed	probably null	0.02
R9622:Teddm1b	UTSW	1	153,750,620 (GRCm39)	missense

Posted On

2013-04-17