Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02394:Teddm1a'

293930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Teddm1a

Ensembl Gene

ENSMUSG00000047053

Gene Name

transmembrane epididymal protein 1A

Synonyms

e9-1, Teddm1, Epdd1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.531) question?

Stock #

IGL02394

Quality Score

Status

Chromosome

Chromosomal Location

153767488-153768804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 153767545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 3 (D3A)

Ref Sequence

ENSEMBL: ENSMUSP00000062098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050660] [ENSMUST00000123490]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050660
AA Change: D3A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000062098
Gene: ENSMUSG00000047053
AA Change: D3A

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:DUF716	126	246	9.4e-28	PFAM
low complexity region	282	293	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194459

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	G	A	1: 176,886,985 (GRCm39)	T288M	probably damaging	Het
Baat	A	T	4: 49,489,812 (GRCm39)		probably benign	Het
Bclaf3	A	G	X: 158,338,485 (GRCm39)	Y444C	probably damaging	Het
Bcs1l	A	G	1: 74,629,459 (GRCm39)	T166A	probably damaging	Het
Cep135	C	T	5: 76,779,318 (GRCm39)	T776I	probably benign	Het
Clasrp	A	G	7: 19,337,179 (GRCm39)	L12P	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp4f15	A	G	17: 32,911,609 (GRCm39)	I164V	possibly damaging	Het
Eps15	T	A	4: 109,170,162 (GRCm39)	L155M	probably damaging	Het
Fbxl20	G	A	11: 98,004,082 (GRCm39)	R69W	probably damaging	Het
Galnt9	A	G	5: 110,763,365 (GRCm39)	M457V	probably damaging	Het
Gemin2	T	A	12: 59,060,842 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,135,499 (GRCm39)	Y175N	probably damaging	Het
Gm3298	T	A	14: 5,018,778 (GRCm38)	C178S	probably benign	Het
Gpr37l1	T	C	1: 135,094,746 (GRCm39)	N166S	probably damaging	Het
Gpr45	A	G	1: 43,069,272 (GRCm39)		probably benign	Het
Gpr75	T	C	11: 30,842,190 (GRCm39)	I365T	possibly damaging	Het
Gsdmc2	T	C	15: 63,707,729 (GRCm39)	R22G	probably damaging	Het
Il23r	T	C	6: 67,443,256 (GRCm39)		probably benign	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Klk1b24	A	G	7: 43,841,294 (GRCm39)	D209G	possibly damaging	Het
Med13l	A	C	5: 118,886,898 (GRCm39)	T1600P	probably benign	Het
Muc16	G	T	9: 18,409,996 (GRCm39)	H137Q	probably damaging	Het
Nin	T	C	12: 70,090,805 (GRCm39)	E870G	probably damaging	Het
Or12k7	A	G	2: 36,958,497 (GRCm39)	Y60C	probably damaging	Het
Or5b120	A	G	19: 13,480,228 (GRCm39)	N174D	probably damaging	Het
Or6c215	A	T	10: 129,638,182 (GRCm39)	F71I	possibly damaging	Het
Pkhd1	T	C	1: 20,269,710 (GRCm39)	K3278R	possibly damaging	Het
Prlr	A	G	15: 10,328,664 (GRCm39)	N380D	probably benign	Het
Rpgr	A	C	X: 10,032,456 (GRCm39)	S582R	probably benign	Het
Rph3a	T	C	5: 121,084,411 (GRCm39)		probably null	Het
Setd5	A	G	6: 113,087,859 (GRCm39)	H140R	probably benign	Het
Stoml3	C	A	3: 53,405,540 (GRCm39)		probably benign	Het
Tmem207	A	G	16: 26,335,586 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,591,629 (GRCm39)	Q243L	possibly damaging	Het
Usp5	G	A	6: 124,799,672 (GRCm39)	T274M	probably damaging	Het
Vav2	A	G	2: 27,187,671 (GRCm39)		probably benign	Het
Wdr5b	A	G	16: 35,862,633 (GRCm39)	N251D	probably damaging	Het
Wnk2	C	A	13: 49,235,375 (GRCm39)		probably null	Het

Other mutations in Teddm1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03224:Teddm1a	APN	1	153,767,763 (GRCm39)	missense	possibly damaging	0.76
R0279:Teddm1a	UTSW	1	153,768,369 (GRCm39)	missense	probably damaging	1.00
R1108:Teddm1a	UTSW	1	153,768,066 (GRCm39)	missense	probably damaging	1.00
R3036:Teddm1a	UTSW	1	153,767,656 (GRCm39)	missense	probably benign
R4393:Teddm1a	UTSW	1	153,768,192 (GRCm39)	missense	probably damaging	1.00
R4686:Teddm1a	UTSW	1	153,768,196 (GRCm39)	missense	probably damaging	1.00
R4855:Teddm1a	UTSW	1	153,768,382 (GRCm39)	missense	probably benign	0.05
R4967:Teddm1a	UTSW	1	153,767,979 (GRCm39)	nonsense	probably null
R5260:Teddm1a	UTSW	1	153,767,646 (GRCm39)	missense	probably benign	0.01
R6114:Teddm1a	UTSW	1	153,767,614 (GRCm39)	missense	probably damaging	1.00
R6559:Teddm1a	UTSW	1	153,768,111 (GRCm39)	missense	probably benign
R7030:Teddm1a	UTSW	1	153,768,369 (GRCm39)	missense	probably damaging	1.00
Z1088:Teddm1a	UTSW	1	153,767,772 (GRCm39)	missense	probably benign	0.12

Posted On

2015-04-16