Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:Eddm3b'

400111

Institutional Source

Beutler Lab

Gene Symbol

Eddm3b

Ensembl Gene

ENSMUSG00000072575

Gene Name

epididymal protein 3B

Synonyms

Fam12

MMRRC Submission

042834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51351886-51355248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51354178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

Ref Sequence

ENSEMBL: ENSMUSP00000098210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100645]

AlphaFold

Q8K0E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000100645
AA Change: D55E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098210
Gene: ENSMUSG00000072575
AA Change: D55E

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:RnaseA	32	147	1.3e-8	PFAM

Meta Mutation Damage Score

0.2122

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Adam39	A	G	8: 41,279,018 (GRCm39)	I470V	probably benign	Het
Agrn	A	T	4: 156,253,447 (GRCm39)	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,621,557 (GRCm39)	I42T	probably damaging	Het
Akap6	T	C	12: 53,186,626 (GRCm39)	C1347R	probably damaging	Het
Antxr1	A	G	6: 87,157,165 (GRCm39)	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,677,704 (GRCm39)	V417D	probably damaging	Het
Brca2	A	G	5: 150,462,688 (GRCm39)	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,861,882 (GRCm39)	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,557,557 (GRCm39)	V323M	possibly damaging	Het
Cebpa	G	A	7: 34,819,283 (GRCm39)	R147H	probably benign	Het
Cetn4	C	A	3: 37,364,118 (GRCm39)	E31*	probably null	Het
Cobll1	G	A	2: 64,964,115 (GRCm39)	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825 (GRCm39)	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,198,934 (GRCm39)	S124P	probably damaging	Het
Elmo1	C	A	13: 20,633,656 (GRCm39)	N439K	probably benign	Het
Fabp12	T	C	3: 10,315,167 (GRCm39)	N60S	probably benign	Het
Fat2	T	A	11: 55,178,704 (GRCm39)	H1452L	probably benign	Het
Flacc1	A	G	1: 58,730,919 (GRCm39)	S46P	possibly damaging	Het
Flrt2	T	C	12: 95,746,712 (GRCm39)	V350A	possibly damaging	Het
Ganab	T	C	19: 8,889,301 (GRCm39)	F626S	probably damaging	Het
Ghr	T	C	15: 3,349,561 (GRCm39)	Y539C	probably benign	Het
Gm6871	T	C	7: 41,197,525 (GRCm39)	T112A	probably damaging	Het
Gm7133	T	A	1: 97,110,848 (GRCm39)		noncoding transcript	Het
Gon4l	A	C	3: 88,802,835 (GRCm39)	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409 (GRCm39)	D45N	probably benign	Het
H2-K2	A	G	17: 34,215,989 (GRCm39)		probably benign	Het
Herc2	C	T	7: 55,818,618 (GRCm39)	R2770*	probably null	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itsn2	A	G	12: 4,683,553 (GRCm39)		probably benign	Het
Klb	A	G	5: 65,506,140 (GRCm39)	D129G	probably damaging	Het
Klf1	A	G	8: 85,629,969 (GRCm39)	I265V	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Map3k10	T	C	7: 27,357,957 (GRCm39)	E607G	probably benign	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mroh6	A	G	15: 75,757,639 (GRCm39)	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,337,012 (GRCm39)	C128S	probably damaging	Het
Or51f23	T	C	7: 102,453,327 (GRCm39)	V214A	probably benign	Het
Paqr4	G	T	17: 23,957,187 (GRCm39)	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,881,747 (GRCm39)	I503V	probably benign	Het
Pds5a	T	C	5: 65,821,271 (GRCm39)	N151S	probably damaging	Het
Pif1	A	G	9: 65,499,111 (GRCm39)	T444A	possibly damaging	Het
Ppp2r3d	T	C	9: 101,031,064 (GRCm39)	R851G	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ros1	T	G	10: 51,927,104 (GRCm39)	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,309,984 (GRCm39)	T86A	probably benign	Het
Rpl18a	G	A	8: 71,348,932 (GRCm39)	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 62,108,684 (GRCm39)	K258R	probably benign	Het
Ska3	T	A	14: 58,059,573 (GRCm39)	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,497,409 (GRCm39)		probably null	Het
Slf1	A	T	13: 77,252,700 (GRCm39)	S274T	probably benign	Het
Spata21	A	T	4: 140,830,332 (GRCm39)	Q267H	probably damaging	Het
Strbp	A	T	2: 37,517,455 (GRCm39)	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,752,326 (GRCm39)	E454G	probably damaging	Het
Tcam1	C	A	11: 106,176,353 (GRCm39)	L360I	probably benign	Het
Tnxb	G	A	17: 34,922,582 (GRCm39)	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,056,797 (GRCm39)	Y1120F	probably benign	Het
Trp53	T	A	11: 69,480,031 (GRCm39)	M243K	probably damaging	Het
Ttl	T	A	2: 128,910,831 (GRCm39)	C72S	probably damaging	Het
Ttn	A	G	2: 76,539,240 (GRCm39)	V34582A	probably benign	Het
Uqcrh	T	C	4: 115,927,101 (GRCm39)	T31A	possibly damaging	Het
Usp40	A	G	1: 87,923,504 (GRCm39)	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,240,839 (GRCm39)	E232G	probably benign	Het
Wdr72	A	T	9: 74,064,653 (GRCm39)	I562F	probably damaging	Het
Wnt4	A	G	4: 137,005,061 (GRCm39)	N24S	probably benign	Het

Other mutations in Eddm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02025:Eddm3b	APN	14	51,354,228 (GRCm39)	missense	probably damaging	1.00
IGL02084:Eddm3b	APN	14	51,354,087 (GRCm39)	missense	unknown
IGL03371:Eddm3b	APN	14	51,354,422 (GRCm39)	missense	probably damaging	0.97
R1902:Eddm3b	UTSW	14	51,354,321 (GRCm39)	missense	probably damaging	1.00
R4473:Eddm3b	UTSW	14	51,354,236 (GRCm39)	missense	probably benign	0.01
R7184:Eddm3b	UTSW	14	51,354,387 (GRCm39)	missense	probably damaging	1.00
R8948:Eddm3b	UTSW	14	51,354,110 (GRCm39)	missense	probably damaging	1.00
R8950:Eddm3b	UTSW	14	51,354,110 (GRCm39)	missense	probably damaging	1.00
X0064:Eddm3b	UTSW	14	51,354,456 (GRCm39)	missense	probably damaging	1.00
Z1177:Eddm3b	UTSW	14	51,354,446 (GRCm39)	missense	probably benign	0.07
Z1177:Eddm3b	UTSW	14	51,354,179 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TAGATGTCCTTGGTGCCTGC -3'
(R):5'- ATCAGCATTGCAATGGAACTGAAC -3'

Sequencing Primer
(F):5'- GCTCTGATGTCCTCTCTAAAAGC -3'
(R):5'- TGGAACTGAACGTAGCTGTAACTCC -3'

Posted On

2016-07-06