Mutagenetix > Incidental Mutation

Incidental Mutation 'R6900:Teddm1b'

538480

Institutional Source

Beutler Lab

Gene Symbol

Teddm1b

Ensembl Gene

ENSMUSG00000043282

Gene Name

transmembrane epididymal protein 1B

Synonyms

Gm5531

MMRRC Submission

044994-MU

Accession Numbers

Essential gene?

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

Stock #

R6900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153750091-153752617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153750956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 255 (C255Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058437 (fasta)

Gene Model

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

AlphaFold

Q8CC62

Predicted Effect

probably benign
Transcript: ENSMUST00000055314
AA Change: C255Y

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000058437
Gene: ENSMUSG00000043282
AA Change: C255Y

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	T	C	8: 78,037,491 (GRCm39)	D579G	probably damaging	Het
Cc2d2b	A	G	19: 40,813,518 (GRCm39)	S1333G	probably null	Het
Cep250	A	G	2: 155,838,190 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,245,271 (GRCm39)	D1149G	possibly damaging	Het
Dnah7a	A	G	1: 53,701,510 (GRCm39)	L215P	probably damaging	Het
Fbn2	T	C	18: 58,209,903 (GRCm39)	M993V	probably benign	Het
Ggt5	A	T	10: 75,446,371 (GRCm39)	Q523L	possibly damaging	Het
Hcn1	A	G	13: 117,793,363 (GRCm39)	N205S	probably benign	Het
Htr1b	A	T	9: 81,513,623 (GRCm39)	I328N	probably damaging	Het
Itgav	T	A	2: 83,633,591 (GRCm39)	F980Y	probably damaging	Het
Kbtbd2	A	G	6: 56,757,008 (GRCm39)	S243P	probably damaging	Het
Kcnd2	A	G	6: 21,216,587 (GRCm39)	N97S	probably damaging	Het
Kifbp	T	C	10: 62,394,908 (GRCm39)	Y578C	probably damaging	Het
Lars1	T	C	18: 42,367,675 (GRCm39)	K468E	probably benign	Het
Map3k1	T	C	13: 111,890,350 (GRCm39)	N1283S	probably benign	Het
Mapk8ip3	A	T	17: 25,128,097 (GRCm39)		probably null	Het
Mroh2b	A	G	15: 4,938,469 (GRCm39)	I253V	probably benign	Het
Nup98	A	G	7: 101,835,169 (GRCm39)	F228S	probably damaging	Het
Or4k1	A	T	14: 50,377,295 (GRCm39)	V267E	possibly damaging	Het
Pdzd2	A	G	15: 12,374,123 (GRCm39)	F2004S	probably benign	Het
Pkhd1	A	T	1: 20,604,925 (GRCm39)	L1130Q	probably benign	Het
Pparg	G	T	6: 115,449,949 (GRCm39)	R286L	possibly damaging	Het
Ppp1r16a	A	G	15: 76,575,923 (GRCm39)	S96G	probably damaging	Het
Psg29	C	T	7: 16,938,857 (GRCm39)	Q44*	probably null	Het
Rgs22	A	G	15: 36,010,893 (GRCm39)	F1227S	possibly damaging	Het
Saxo1	T	C	4: 86,363,571 (GRCm39)	D304G	possibly damaging	Het
Sec14l1	T	C	11: 117,008,049 (GRCm39)	Y12H	probably damaging	Het
Sh3bp4	A	G	1: 89,073,489 (GRCm39)	N779S	probably benign	Het
Sin3a	T	C	9: 57,014,858 (GRCm39)	V693A	probably damaging	Het
Ttk	T	A	9: 83,754,083 (GRCm39)	S819T	probably damaging	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGCTCCTGAAATGTTTCACC -3'
(R):5'- ATGTACCCAGGTTTCTAGGCC -3'

Sequencing Primer
(F):5'- CAGGATGATAGAGACCTTCCTGTTC -3'
(R):5'- AGGTTTCTAGGCCCTGTCACAG -3'

Posted On

2018-11-06