Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00771:Teddm1b'

11016

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 #

IGL00771

Quality Score

Status

Chromosome

Chromosomal Location

153750091-153752617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153750340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 50 (C50S)

Ref Sequence

ENSEMBL: ENSMUSP00000058437 (fasta)

Gene Model

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

AlphaFold

Q8CC62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055314
AA Change: C50S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: C50S

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	G	17: 48,452,855 (GRCm39)	L28S	possibly damaging	Het
Abca13	T	A	11: 9,240,870 (GRCm39)	L911Q	probably damaging	Het
Armc9	C	A	1: 86,127,557 (GRCm39)		probably null	Het
Asxl2	A	G	12: 3,524,560 (GRCm39)	H196R	probably damaging	Het
Atm	T	C	9: 53,404,354 (GRCm39)	D1329G	probably benign	Het
Cds2	T	C	2: 132,146,272 (GRCm39)		probably benign	Het
Cep295	A	T	9: 15,233,861 (GRCm39)	C2184S	probably damaging	Het
Cpeb2	T	C	5: 43,394,890 (GRCm39)	F623L	possibly damaging	Het
Dmd	G	A	X: 82,951,978 (GRCm39)		probably null	Het
F11r	T	A	1: 171,290,510 (GRCm39)		probably null	Het
Gbp3	C	T	3: 142,271,005 (GRCm39)		probably benign	Het
Gpc4	A	G	X: 51,163,527 (GRCm39)	S119P	possibly damaging	Het
H2-M10.2	A	G	17: 36,597,288 (GRCm39)	L9P	probably damaging	Het
Ica1l	T	C	1: 60,053,106 (GRCm39)	D144G	probably damaging	Het
Jaml	A	G	9: 45,005,105 (GRCm39)	K124E	possibly damaging	Het
Lamc2	T	C	1: 153,005,802 (GRCm39)	N950S	probably benign	Het
Ltbp1	A	T	17: 75,669,511 (GRCm39)	D1099V	probably damaging	Het
Mlxipl	C	T	5: 135,161,632 (GRCm39)	T517I	probably damaging	Het
Nbeal1	C	T	1: 60,274,512 (GRCm39)	R308C	probably benign	Het
Nlrp1a	A	T	11: 71,013,567 (GRCm39)	L561*	probably null	Het
Prom1	A	T	5: 44,187,118 (GRCm39)		probably benign	Het
Ptprc	T	A	1: 138,041,415 (GRCm39)	E148V	probably benign	Het
Rap1gap	T	C	4: 137,443,835 (GRCm39)	V224A	probably damaging	Het
Slc7a6	T	C	8: 106,905,872 (GRCm39)	S35P	probably benign	Het
Snx17	C	T	5: 31,354,679 (GRCm39)	R314C	probably damaging	Het
Spats2l	T	C	1: 57,982,231 (GRCm39)	L371P	probably damaging	Het
Spsb1	C	T	4: 149,991,564 (GRCm39)	M1I	probably null	Het
Sv2a	G	A	3: 96,100,600 (GRCm39)	V661I	probably benign	Het
Taar7b	T	A	10: 23,876,096 (GRCm39)	V87E	probably benign	Het
Tcf7l2	G	A	19: 55,905,853 (GRCm39)	V292I	probably damaging	Het
Trmt10a	A	G	3: 137,856,216 (GRCm39)	D159G	probably benign	Het
Urod	T	C	4: 116,847,581 (GRCm39)	N336S	probably damaging	Het
Usp8	A	G	2: 126,567,353 (GRCm39)		probably null	Het
Zfp182	A	G	X: 20,896,896 (GRCm39)	Y467H	probably damaging	Het

Other mutations in Teddm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Teddm1b	APN	1	153,750,391 (GRCm39)	missense	probably damaging	0.99
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

2012-12-06