Mutagenetix > Incidental Mutation

Incidental Mutation 'R4368:Speer3'

325845

Institutional Source

Beutler Lab

Gene Symbol

Speer3

Ensembl Gene

ENSMUSG00000067855

Gene Name

spermatogenesis associated glutamate (E)-rich protein 3

Synonyms

4933405P08Rik, SPEER-3

MMRRC Submission

041115-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4368 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

13841633-13846833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 13846394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 238 (A238G)

Ref Sequence

ENSEMBL: ENSMUSP00000115668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124677]

AlphaFold

W4VSP1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124677
AA Change: A238G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: A238G

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	134	2.3e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199961

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	G	3: 59,754,199 (GRCm39)		noncoding transcript	Het
Aadacl2fm2	T	C	3: 59,659,387 (GRCm39)	F280S	probably damaging	Het
Adamts7	G	A	9: 90,077,904 (GRCm39)		probably null	Het
Adgrv1	A	C	13: 81,641,029 (GRCm39)	S3335R	unknown	Het
Armc6	G	A	8: 70,677,943 (GRCm39)	L129F	probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bltp1	C	T	3: 37,042,296 (GRCm39)	Q2761*	probably null	Het
Cdh19	G	A	1: 110,817,442 (GRCm39)	Q767*	probably null	Het
Cep120	G	A	18: 53,818,957 (GRCm39)		probably null	Het
Dhx38	C	T	8: 110,279,763 (GRCm39)	V976I	probably damaging	Het
Efr3a	T	A	15: 65,738,629 (GRCm39)	F753I	possibly damaging	Het
Hspb7	A	T	4: 141,151,329 (GRCm39)	E157V	probably damaging	Het
Irx6	A	G	8: 93,405,029 (GRCm39)	E299G	probably damaging	Het
Jhy	T	A	9: 40,828,440 (GRCm39)	N489Y	possibly damaging	Het
Klhl22	T	C	16: 17,607,137 (GRCm39)	V481A	possibly damaging	Het
Mapk13	A	G	17: 28,996,539 (GRCm39)		probably null	Het
Meis1	A	T	11: 18,960,656 (GRCm39)		probably benign	Het
Nlrp14	A	G	7: 106,797,012 (GRCm39)	K301E	probably benign	Het
Nol10	T	C	12: 17,429,293 (GRCm39)	Y340H	probably damaging	Het
Or2k2	T	C	4: 58,785,153 (GRCm39)	S190G	probably benign	Het
Paqr3	T	C	5: 97,256,150 (GRCm39)	S75G	probably damaging	Het
Pdgfa	T	C	5: 138,972,061 (GRCm39)	T113A	probably damaging	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Psph	T	G	5: 129,848,654 (GRCm39)	K9T	probably benign	Het
Ptpn21	T	C	12: 98,644,852 (GRCm39)	Y1163C	probably damaging	Het
Scaf8	T	C	17: 3,221,470 (GRCm39)	L319P	unknown	Het
Slc4a7	C	T	14: 14,733,775 (GRCm38)	R62W	probably damaging	Het
Slc6a3	C	A	13: 73,709,031 (GRCm39)	C318*	probably null	Het
Taf1c	A	C	8: 120,326,055 (GRCm39)	S602R	possibly damaging	Het
Tiam2	A	G	17: 3,464,958 (GRCm39)	D229G	probably benign	Het
Tor1a	A	G	2: 30,857,382 (GRCm39)		probably benign	Het
Trim45	T	C	3: 100,830,502 (GRCm39)	I92T	probably damaging	Het
Ttll8	G	A	15: 88,798,384 (GRCm39)	P784S	possibly damaging	Het
Tubg1	G	T	11: 101,016,190 (GRCm39)		probably null	Het
Vmn1r178	A	T	7: 23,593,447 (GRCm39)	N92I	probably damaging	Het
Vmn2r87	A	G	10: 130,315,676 (GRCm39)	V130A	probably benign	Het
Wdr46	A	G	17: 34,160,120 (GRCm39)		probably benign	Het
Yme1l1	A	G	2: 23,050,223 (GRCm39)	H18R	possibly damaging	Het
Zfp263	T	A	16: 3,562,770 (GRCm39)		probably benign	Het
Zfp534	T	C	4: 147,760,015 (GRCm39)	D218G	probably benign	Het
Zscan12	T	C	13: 21,553,553 (GRCm39)	V459A	probably benign	Het

Other mutations in Speer3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Speer3	APN	5	13,843,236 (GRCm39)	nonsense	probably null
IGL02730:Speer3	APN	5	13,843,285 (GRCm39)	missense	probably benign
IGL03192:Speer3	APN	5	13,841,702 (GRCm39)	missense	possibly damaging	0.93
IGL03301:Speer3	APN	5	13,845,447 (GRCm39)	missense	probably damaging	1.00
R1623:Speer3	UTSW	5	13,846,335 (GRCm39)	missense	probably benign
R3028:Speer3	UTSW	5	13,845,445 (GRCm39)	missense	probably damaging	0.99
R4091:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4092:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4369:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4405:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4450:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4509:Speer3	UTSW	5	13,846,368 (GRCm39)	missense	possibly damaging	0.72
R4594:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R4702:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R5096:Speer3	UTSW	5	13,846,394 (GRCm39)	missense	possibly damaging	0.70
R5508:Speer3	UTSW	5	13,844,678 (GRCm39)	missense	probably damaging	0.97
R5583:Speer3	UTSW	5	13,844,782 (GRCm39)	critical splice donor site	probably null
R6061:Speer3	UTSW	5	13,844,705 (GRCm39)	missense	possibly damaging	0.88
R6337:Speer3	UTSW	5	13,843,369 (GRCm39)	missense	probably damaging	0.96
R6518:Speer3	UTSW	5	13,845,462 (GRCm39)	missense	possibly damaging	0.66
R7503:Speer3	UTSW	5	13,843,348 (GRCm39)	missense	probably benign	0.30
R9456:Speer3	UTSW	5	13,846,368 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCCCTGCATGTATAGAACAGC -3'
(R):5'- CAGACCTACAGCCTGTATCTCC -3'

Sequencing Primer
(F):5'- CCCTGCATGTATAGAACAGCAATGG -3'
(R):5'- AGCCTGTATCTCCTCTTGGACTG -3'

Posted On

2015-07-06