Mutagenetix > Incidental Mutation

Incidental Mutation 'R6061:Speer3'

483226

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

044226-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6061 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13841633-13846833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13844705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 123 (V123M)

Ref Sequence

ENSEMBL: ENSMUSP00000115668 (fasta)

Gene Model

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

AlphaFold

W4VSP1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124677
AA Change: V123M

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115668
Gene: ENSMUSG00000067855
AA Change: V123M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199961

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,545,675 (GRCm39)	F484C	probably damaging	Het
Aoc1l1	A	C	6: 48,953,535 (GRCm39)	I487L	probably benign	Het
Cdsn	A	G	17: 35,865,803 (GRCm39)	S111G	unknown	Het
Ctnnal1	T	C	4: 56,812,349 (GRCm39)	T726A	probably benign	Het
Cyp2j11	T	A	4: 96,236,853 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,476,275 (GRCm39)	M1541K	probably null	Het
Dnah14	C	T	1: 181,536,616 (GRCm39)	P2420S	probably damaging	Het
Fhit	T	C	14: 9,573,435 (GRCm38)	E205G	probably benign	Het
Glipr1l1	C	T	10: 111,912,075 (GRCm39)	T203M	probably benign	Het
Gm4353	T	A	7: 115,683,504 (GRCm39)	D97V	probably benign	Het
Gprc6a	A	T	10: 51,491,907 (GRCm39)	I543K	probably damaging	Het
Ifi205	T	C	1: 173,854,830 (GRCm39)	T110A	possibly damaging	Het
Med27	T	A	2: 29,399,453 (GRCm39)	S95T	probably damaging	Het
Mocs1	T	C	17: 49,757,341 (GRCm39)	S308P	probably damaging	Het
Mrpl11	C	T	19: 5,013,397 (GRCm39)	S88F	possibly damaging	Het
Nav3	A	T	10: 109,702,845 (GRCm39)	Y229*	probably null	Het
Or2f1b	A	T	6: 42,739,899 (GRCm39)	L304F	probably damaging	Het
Or2n1e	A	G	17: 38,585,772 (GRCm39)	M37V	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Or52r1	C	A	7: 102,537,158 (GRCm39)	L67F	probably benign	Het
Or5g27	T	A	2: 85,409,886 (GRCm39)	M101K	possibly damaging	Het
Pear1	A	G	3: 87,663,238 (GRCm39)	I460T	probably benign	Het
Phc3	T	A	3: 30,968,678 (GRCm39)	K816N	probably damaging	Het
Phf19	T	A	2: 34,787,129 (GRCm39)	D445V	probably damaging	Het
Pkd2l2	T	C	18: 34,563,742 (GRCm39)	F486L	probably damaging	Het
Plagl1	G	T	10: 13,003,639 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,948,671 (GRCm39)	I106T	probably benign	Het
Ptpn3	C	T	4: 57,248,681 (GRCm39)	G218R	probably damaging	Het
Ptx3	A	G	3: 66,132,130 (GRCm39)	D217G	possibly damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rfx2	A	G	17: 57,084,473 (GRCm39)	F642S	possibly damaging	Het
Rhpn2	T	A	7: 35,075,636 (GRCm39)	M271K	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,977 (GRCm39)	T259A	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Thbs4	A	G	13: 92,888,303 (GRCm39)	F950L	probably benign	Het
Tiparp	T	C	3: 65,460,664 (GRCm39)	V551A	probably damaging	Het
Vmn2r71	T	A	7: 85,268,482 (GRCm39)	D228E	probably benign	Het
Vmn2r85	T	C	10: 130,261,531 (GRCm39)	I269V	probably benign	Het
Vps9d1	A	T	8: 123,972,410 (GRCm39)	M497K	probably damaging	Het
Wnt5b	A	G	6: 119,410,603 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,228,342 (GRCm39)	N353S	probably damaging	Het
Zfp526	C	T	7: 24,925,757 (GRCm39)	T672M	probably damaging	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
R4368: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
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'- TCAAAGCTGAAGATCATCCCAG -3'
(R):5'- ATCCCAAGGCACACTGATGG -3'

Sequencing Primer
(F):5'- CCCAGTATATAGAATCCAGAATGTGC -3'
(R):5'- GCACACTGATGGCTAAAAGC -3'

Posted On

2017-07-14