Mutagenetix > Incidental Mutation

Incidental Mutation 'R3754:Teddm3'

473471

Institutional Source

Beutler Lab

Gene Symbol

Teddm3

Ensembl Gene

ENSMUSG00000090356

Gene Name

transmembrane epididymal family member 3

Synonyms

2310042E22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20971409-20972694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20971898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 224 (D224N)

Ref Sequence

ENSEMBL: ENSMUSP00000141078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170665]

AlphaFold

Q9CQH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170665
AA Change: D224N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141078
Gene: ENSMUSG00000090356
AA Change: D224N

Domain	Start	End	E-Value	Type
transmembrane domain	10	30	N/A	INTRINSIC
Pfam:DUF716	126	249	2.1e-29	PFAM
low complexity region	274	279	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202618
AA Change: G265E

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.7%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 135,956,766 (GRCm39)		probably null	Het
Atp12a	G	A	14: 56,610,045 (GRCm39)	V182I	probably benign	Het
Gad2	A	T	2: 22,571,352 (GRCm39)	D430V	possibly damaging	Het
Hr	A	G	14: 70,805,264 (GRCm39)	E1002G	probably damaging	Het
Itpkc	G	T	7: 26,927,857 (GRCm39)	P19Q	probably damaging	Het
Lrrc72	A	G	12: 36,262,567 (GRCm39)	S42P	probably benign	Het
Med1	A	G	11: 98,057,548 (GRCm39)	V318A	possibly damaging	Het
Myef2l	G	A	3: 10,153,575 (GRCm39)	V115I	possibly damaging	Het
Nek11	A	T	9: 105,191,917 (GRCm39)	N164K	probably damaging	Het
Neurod2	A	G	11: 98,218,526 (GRCm39)	S213P	probably damaging	Het
Nhsl1	A	G	10: 18,391,782 (GRCm39)	N179D	probably damaging	Het
Nr2f2	T	C	7: 70,007,769 (GRCm39)	I238V	probably benign	Het
Rpl37	C	A	15: 5,146,770 (GRCm39)	T2K	possibly damaging	Het
Slf2	A	G	19: 44,961,676 (GRCm39)	D1065G	probably benign	Het
Smim5	T	C	11: 115,796,549 (GRCm39)	C57R	probably damaging	Het
Soat2	T	A	15: 102,065,513 (GRCm39)	V236D	probably damaging	Het
Tm2d2	G	A	8: 25,510,494 (GRCm39)	V118I	probably damaging	Het
Ttc22	C	A	4: 106,496,278 (GRCm39)	R443S	probably damaging	Het
Upf1	A	G	8: 70,792,464 (GRCm39)	I368T	probably benign	Het
Xrn1	G	T	9: 95,849,841 (GRCm39)	D129Y	probably damaging	Het
Zfp109	A	G	7: 23,929,181 (GRCm39)	M76T	probably benign	Het
Znrf1	G	A	8: 112,345,843 (GRCm39)	V76M	probably damaging	Het

Other mutations in Teddm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02900:Teddm3	APN	16	20,971,900 (GRCm39)	missense	probably benign	0.02
R5092:Teddm3	UTSW	16	20,971,900 (GRCm39)	missense	probably benign	0.05
R7103:Teddm3	UTSW	16	20,971,729 (GRCm39)	nonsense	probably null
R7912:Teddm3	UTSW	16	20,971,699 (GRCm39)	missense	probably benign	0.04
R8686:Teddm3	UTSW	16	20,971,685 (GRCm39)	makesense	probably null
R8997:Teddm3	UTSW	16	20,971,687 (GRCm39)	missense	probably damaging	1.00
R9209:Teddm3	UTSW	16	20,971,737 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2017-04-14