Mutagenetix > Incidental Mutation

Incidental Mutation 'R3780:Stpg3'

271993

Institutional Source

Beutler Lab

Gene Symbol

Stpg3

Ensembl Gene

ENSMUSG00000036770

Gene Name

sperm tail PG rich repeat containing 3

Synonyms

4933433C11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25102219-25104649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25103875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 154 (M154L)

Ref Sequence

ENSEMBL: ENSMUSP00000037603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043774] [ENSMUST00000059849] [ENSMUST00000114363]

AlphaFold

A2RSX4

Predicted Effect

probably benign
Transcript: ENSMUST00000028346

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969

Domain	Start	End	E-Value	Type
Pfam:DUF2475	13	71	8.1e-16	PFAM
low complexity region	130	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043774
AA Change: M154L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037603
Gene: ENSMUSG00000036770
AA Change: M154L

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	103	145	9.5e-4	PFAM
Pfam:SHIPPO-rpt	226	255	1.4e-3	PFAM
Pfam:SHIPPO-rpt	265	291	1.4e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059849

SMART Domains

Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465

Domain	Start	End	E-Value	Type
Pfam:COBRA1	107	578	3.5e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114363
AA Change: M99L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110003
Gene: ENSMUSG00000036770
AA Change: M99L

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	48	79	2.8e-4	PFAM
Pfam:SHIPPO-rpt	110	136	1.2e-1	PFAM
Pfam:SHIPPO-rpt	152	200	3.5e-1	PFAM
Pfam:SHIPPO-rpt	210	248	1.9e-3	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155706

Predicted Effect

probably benign
Transcript: ENSMUST00000140934

SMART Domains

Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465

Domain	Start	End	E-Value	Type
Pfam:COBRA1	40	204	9.7e-106	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,260,263 (GRCm39)		noncoding transcript	Het
Adam21	C	T	12: 81,606,047 (GRCm39)	V572I	probably damaging	Het
Arhgap32	T	A	9: 32,063,315 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,321,152 (GRCm39)	I281N	probably damaging	Het
Cdh12	T	A	15: 21,586,063 (GRCm39)		probably null	Het
Cdh20	T	A	1: 109,976,734 (GRCm39)	V133E	probably benign	Het
Cntrob	A	G	11: 69,193,708 (GRCm39)	L814P	probably damaging	Het
Csmd1	T	C	8: 16,252,000 (GRCm39)	N952S	probably damaging	Het
Cspg4	A	G	9: 56,795,517 (GRCm39)	Y1084C	probably damaging	Het
Dlg5	A	G	14: 24,240,378 (GRCm39)		probably benign	Het
Glis2	T	C	16: 4,431,760 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,638 (GRCm39)	E111G	probably damaging	Het
Kctd4	A	G	14: 76,200,251 (GRCm39)	D74G	probably benign	Het
Kif21b	A	T	1: 136,083,964 (GRCm39)	K737M	probably damaging	Het
Ktn1	G	A	14: 47,943,860 (GRCm39)		probably benign	Het
Lama2	A	T	10: 27,335,335 (GRCm39)	N113K	probably damaging	Het
Ltv1	A	G	10: 13,054,944 (GRCm39)	S409P	probably benign	Het
Mgat4c	A	G	10: 102,224,782 (GRCm39)	E332G	probably benign	Het
Myh6	A	G	14: 55,201,415 (GRCm39)	F95L	probably benign	Het
Ndufa4l2	A	G	10: 127,351,289 (GRCm39)	I27V	probably benign	Het
Npepl1	T	G	2: 173,962,447 (GRCm39)	L371R	probably damaging	Het
Nudt9	A	G	5: 104,194,972 (GRCm39)	T23A	probably benign	Het
Ocrl	G	A	X: 47,027,180 (GRCm39)	V416I	probably benign	Het
Or2g1	T	G	17: 38,106,895 (GRCm39)	C187G	probably damaging	Het
Padi2	C	T	4: 140,645,048 (GRCm39)	T94I	probably benign	Het
Pcca	G	A	14: 122,922,297 (GRCm39)	E353K	probably damaging	Het
Pcdhgb2	T	A	18: 37,824,810 (GRCm39)	N600K	probably damaging	Het
Pex5l	A	G	3: 33,004,993 (GRCm39)	L593P	probably damaging	Het
Rbp2	G	A	9: 98,380,879 (GRCm39)	D62N	probably benign	Het
Rock1	G	T	18: 10,067,575 (GRCm39)	N1319K	probably benign	Het
Ror1	A	C	4: 100,269,314 (GRCm39)	D384A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sacm1l	A	T	9: 123,381,855 (GRCm39)	E152D	probably benign	Het
Seh1l	T	C	18: 67,908,087 (GRCm39)	V3A	probably benign	Het
Serpinb6d	T	A	13: 33,848,097 (GRCm39)	D20E	probably benign	Het
Serpini1	T	G	3: 75,521,942 (GRCm39)	N144K	probably damaging	Het
Slc22a23	G	A	13: 34,528,323 (GRCm39)	T153I	probably benign	Het
Slfn8	A	G	11: 82,908,280 (GRCm39)	S88P	probably benign	Het
Vmn2r115	G	A	17: 23,564,146 (GRCm39)	C106Y	probably damaging	Het
Washc3	C	T	10: 88,055,122 (GRCm39)	T112M	probably benign	Het
Zfp280d	C	T	9: 72,229,806 (GRCm39)	T346M	probably damaging	Het

Other mutations in Stpg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Stpg3	APN	2	25,103,191 (GRCm39)	unclassified	probably benign
IGL01450:Stpg3	APN	2	25,104,622 (GRCm39)	unclassified	probably benign
R1413:Stpg3	UTSW	2	25,103,862 (GRCm39)	missense	probably damaging	1.00
R1612:Stpg3	UTSW	2	25,103,866 (GRCm39)	missense	probably benign	0.00
R3781:Stpg3	UTSW	2	25,103,875 (GRCm39)	missense	probably benign	0.00
R4694:Stpg3	UTSW	2	25,103,309 (GRCm39)	missense	probably damaging	0.96
R5029:Stpg3	UTSW	2	25,104,576 (GRCm39)	missense	probably damaging	0.97
R5406:Stpg3	UTSW	2	25,103,580 (GRCm39)	nonsense	probably null
R7202:Stpg3	UTSW	2	25,104,586 (GRCm39)	missense	probably damaging	1.00
R8458:Stpg3	UTSW	2	25,103,333 (GRCm39)	missense	probably damaging	1.00
R9476:Stpg3	UTSW	2	25,103,516 (GRCm39)	missense	probably benign	0.00
R9510:Stpg3	UTSW	2	25,103,516 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGGCCTGATCCATGCTTTTG -3'
(R):5'- ATACACCATCGGTCGCAAGTAC -3'

Sequencing Primer
(F):5'- GGTTCTCCCTCTACGCCAAAC -3'
(R):5'- AAGTACCCGGTTCGAGGTG -3'

Posted On

2015-03-25