Mutagenetix > Incidental Mutation

Incidental Mutation 'R2155:Speer2'

234757

Institutional Source

Beutler Lab

Gene Symbol

Speer2

Ensembl Gene

ENSMUSG00000063163

Gene Name

spermatogenesis associated glutamate (E)-rich protein 2

Synonyms

SPEER-2

MMRRC Submission

040158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R2155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69653762-69660617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69657485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 53 (T53S)

Ref Sequence

ENSEMBL: ENSMUSP00000075821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076500] [ENSMUST00000164146] [ENSMUST00000166256]

AlphaFold

E9Q9U2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076500
AA Change: T53S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075821
Gene: ENSMUSG00000063163
AA Change: T53S

Domain	Start	End	E-Value	Type
Pfam:Takusan	51	137	6.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164146

SMART Domains

Protein: ENSMUSP00000126059
Gene: ENSMUSG00000063163

Domain	Start	End	E-Value	Type
Pfam:Takusan	33	121	1.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166256

SMART Domains

Protein: ENSMUSP00000130270
Gene: ENSMUSG00000063163

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	49	2.3e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,939,260 (GRCm39)	L41P	probably damaging	Het
Aff4	C	T	11: 53,290,446 (GRCm39)	L469F	probably damaging	Het
AI182371	G	A	2: 34,975,366 (GRCm39)	H288Y	probably benign	Het
AK157302	A	T	13: 21,679,827 (GRCm39)	K118*	probably null	Het
Arhgef2	G	A	3: 88,543,351 (GRCm39)	R454Q	probably damaging	Het
Asb17	C	T	3: 153,550,322 (GRCm39)	T118M	probably damaging	Het
Atp7b	A	G	8: 22,503,600 (GRCm39)	V718A	possibly damaging	Het
Cdca2	A	G	14: 67,952,287 (GRCm39)	L28S	probably damaging	Het
Cdh20	G	T	1: 109,976,594 (GRCm39)	L86F	probably damaging	Het
Cela2a	A	T	4: 141,545,350 (GRCm39)		probably null	Het
Cers3	T	A	7: 66,433,162 (GRCm39)	Y160N	probably damaging	Het
Chmp2b	A	G	16: 65,343,877 (GRCm39)	V56A	probably benign	Het
Cryl1	A	G	14: 57,635,880 (GRCm39)	V9A	unknown	Het
Dmbt1	A	T	7: 130,699,305 (GRCm39)	H978L	possibly damaging	Het
Dnm1	C	T	2: 32,204,949 (GRCm39)	V673M	probably damaging	Het
Dtx4	T	A	19: 12,462,646 (GRCm39)	K378*	probably null	Het
Extl1	A	T	4: 134,090,491 (GRCm39)	M328K	possibly damaging	Het
Fcgbp	T	C	7: 27,806,628 (GRCm39)	S2199P	probably benign	Het
Glis3	G	T	19: 28,508,702 (GRCm39)	N427K	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hesx1	A	G	14: 26,723,434 (GRCm39)	E88G	probably benign	Het
Hmcn2	A	T	2: 31,350,361 (GRCm39)	Q5086L	possibly damaging	Het
Ier3	A	G	17: 36,133,101 (GRCm39)	T128A	probably benign	Het
Igsf10	G	T	3: 59,239,101 (GRCm39)	T360K	probably damaging	Het
Ilkap	A	C	1: 91,312,345 (GRCm39)	C2G	possibly damaging	Het
Itih1	A	G	14: 30,660,028 (GRCm39)	F231S	probably damaging	Het
Jrkl	A	T	9: 13,244,913 (GRCm39)	Y249*	probably null	Het
Kat6a	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	8: 23,425,663 (GRCm39)		probably benign	Het
Katnal2	A	T	18: 77,098,637 (GRCm39)	S184R	probably benign	Het
Kcnh5	T	A	12: 74,945,230 (GRCm39)		probably null	Het
Kcnj11	G	T	7: 45,748,781 (GRCm39)	L181I	probably damaging	Het
Klhl2	T	C	8: 65,202,804 (GRCm39)	T465A	probably benign	Het
Krt90	T	A	15: 101,471,046 (GRCm39)	Y72F	probably benign	Het
Lig4	G	A	8: 10,022,766 (GRCm39)	T338I	probably benign	Het
Lrrc37	T	C	11: 103,511,285 (GRCm39)	T228A	unknown	Het
Magel2	T	C	7: 62,030,540 (GRCm39)	V1148A	unknown	Het
Mak	C	A	13: 41,186,020 (GRCm39)	E549D	probably benign	Het
Marf1	G	T	16: 13,950,293 (GRCm39)	S1001Y	probably damaging	Het
Mcoln1	G	A	8: 3,561,787 (GRCm39)	V446I	probably damaging	Het
Meig1	T	C	2: 3,410,290 (GRCm39)	N70S	probably benign	Het
Mfsd14a	G	A	3: 116,441,479 (GRCm39)	T108I	probably damaging	Het
Mocs1	G	A	17: 49,761,386 (GRCm39)	M493I	probably damaging	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Myh6	A	T	14: 55,191,251 (GRCm39)	D863E	probably benign	Het
Myom2	T	A	8: 15,134,555 (GRCm39)	Y453N	probably damaging	Het
Nhlh1	A	G	1: 171,881,524 (GRCm39)	I114T	probably damaging	Het
Odr4	A	G	1: 150,258,086 (GRCm39)	V183A	possibly damaging	Het
Or12j4	A	C	7: 140,046,504 (GRCm39)	H130P	probably benign	Het
Or2y3	G	T	17: 38,393,071 (GRCm39)	P266Q	probably damaging	Het
Or4k5	A	T	14: 50,386,154 (GRCm39)	M59K	probably damaging	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or5p80	C	G	7: 108,229,984 (GRCm39)	P262A	probably damaging	Het
Pclo	T	C	5: 14,764,309 (GRCm39)	S976P	probably benign	Het
Pde3a	G	A	6: 141,429,640 (GRCm39)	E734K	possibly damaging	Het
Pdzd2	A	T	15: 12,375,879 (GRCm39)	S1419T	probably benign	Het
Pdzd8	T	A	19: 59,288,853 (GRCm39)	Y849F	probably damaging	Het
Phldb3	A	G	7: 24,312,070 (GRCm39)	E128G	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Ppp1r35	T	C	5: 137,778,267 (GRCm39)	M254T	probably benign	Het
Ppp3ca	G	T	3: 136,596,211 (GRCm39)	R292M	possibly damaging	Het
Ptk7	T	A	17: 46,890,543 (GRCm39)	T430S	probably benign	Het
Ptrh1	T	A	2: 32,667,040 (GRCm39)	N144K	possibly damaging	Het
Rbfox1	A	G	16: 7,111,946 (GRCm39)	T211A	possibly damaging	Het
Rbpjl	A	G	2: 164,256,343 (GRCm39)	D443G	possibly damaging	Het
Rcc1	A	G	4: 132,065,360 (GRCm39)		probably null	Het
Rimbp2	G	T	5: 128,865,229 (GRCm39)	S706R	probably damaging	Het
Rsph10b	G	C	5: 143,898,074 (GRCm39)	E96D	probably benign	Het
Scn10a	A	T	9: 119,438,514 (GRCm39)	I1784K	probably benign	Het
Sfxn2	A	G	19: 46,579,985 (GRCm39)		probably null	Het
Slamf6	T	A	1: 171,765,575 (GRCm39)	L233Q	probably damaging	Het
Slc17a5	A	T	9: 78,484,455 (GRCm39)	Y102N	probably damaging	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slco1a8	T	C	6: 141,926,670 (GRCm39)	D552G	probably damaging	Het
Smg7	G	A	1: 152,716,064 (GRCm39)	T1057I	possibly damaging	Het
Srm	A	C	4: 148,676,948 (GRCm39)	I100L	probably benign	Het
Stoml3	A	C	3: 53,415,008 (GRCm39)	N267H	probably damaging	Het
Thsd7a	A	C	6: 12,379,632 (GRCm39)	C931G	probably damaging	Het
Tlr11	A	G	14: 50,598,139 (GRCm39)	I42V	probably benign	Het
Tmigd1	T	C	11: 76,800,999 (GRCm39)	V162A	probably benign	Het
Tmx3	A	G	18: 90,528,505 (GRCm39)		probably null	Het
Topors	T	A	4: 40,262,790 (GRCm39)	R165W	possibly damaging	Het
Ttc17	A	T	2: 94,196,987 (GRCm39)	S453R	possibly damaging	Het
Vmn1r49	G	T	6: 90,049,441 (GRCm39)	T187N	probably damaging	Het
Zbtb49	A	T	5: 38,371,464 (GRCm39)	V139E	possibly damaging	Het
Zfp11	T	C	5: 129,734,216 (GRCm39)	H415R	probably damaging	Het
Zfp677	A	T	17: 21,617,970 (GRCm39)	K342N	probably benign	Het
Zfp979	A	C	4: 147,697,915 (GRCm39)	C265G	possibly damaging	Het
Zfpl1	T	C	19: 6,134,459 (GRCm39)	R9G	probably damaging	Het
Zkscan8	A	T	13: 21,704,759 (GRCm39)	C321*	probably null	Het

Other mutations in Speer2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Speer2	APN	16	69,657,406 (GRCm39)	missense	probably benign	0.01
IGL01115:Speer2	APN	16	69,658,539 (GRCm39)	nonsense	probably null
IGL01694:Speer2	APN	16	69,655,001 (GRCm39)	missense	probably damaging	1.00
IGL01694:Speer2	APN	16	69,655,000 (GRCm39)	missense	probably damaging	0.98
IGL02738:Speer2	APN	16	69,658,600 (GRCm39)	missense	probably benign
IGL03024:Speer2	APN	16	69,655,003 (GRCm39)	missense	possibly damaging	0.95
IGL03062:Speer2	APN	16	69,654,865 (GRCm39)	missense	probably damaging	0.96
R0054:Speer2	UTSW	16	69,655,640 (GRCm39)	missense	probably damaging	0.99
R1248:Speer2	UTSW	16	69,653,955 (GRCm39)	splice site	probably null
R1952:Speer2	UTSW	16	69,654,052 (GRCm39)	missense	probably damaging	0.96
R1993:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	probably benign	0.01
R1995:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	probably benign	0.01
R2063:Speer2	UTSW	16	69,657,385 (GRCm39)	missense	probably benign	0.02
R2216:Speer2	UTSW	16	69,655,730 (GRCm39)	missense	possibly damaging	0.94
R4547:Speer2	UTSW	16	69,655,737 (GRCm39)	missense	probably damaging	0.98
R4548:Speer2	UTSW	16	69,655,737 (GRCm39)	missense	probably damaging	0.98
R4625:Speer2	UTSW	16	69,655,642 (GRCm39)	nonsense	probably null
R4692:Speer2	UTSW	16	69,654,860 (GRCm39)	missense	possibly damaging	0.91
R4841:Speer2	UTSW	16	69,654,988 (GRCm39)	missense	probably benign	0.26
R4842:Speer2	UTSW	16	69,654,988 (GRCm39)	missense	probably benign	0.26
R5035:Speer2	UTSW	16	69,654,829 (GRCm39)	critical splice donor site	probably null
R5133:Speer2	UTSW	16	69,655,708 (GRCm39)	missense	probably null	0.06
R5812:Speer2	UTSW	16	69,655,783 (GRCm39)	missense	possibly damaging	0.82
R6348:Speer2	UTSW	16	69,654,895 (GRCm39)	missense	possibly damaging	0.83
R6854:Speer2	UTSW	16	69,655,775 (GRCm39)	missense	probably damaging	0.96
R7446:Speer2	UTSW	16	69,654,965 (GRCm39)	missense	possibly damaging	0.82
R8068:Speer2	UTSW	16	69,657,412 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AGGCTGACATTGAAGACCCC -3'
(R):5'- TGGCTGTTTACATCTCCTGG -3'

Sequencing Primer
(F):5'- TGACATTGAAGACCCCAGACTG -3'
(R):5'- GTGTCTCTAGAGTACTGGGAGAAC -3'

Posted On

2014-10-01