Mutagenetix > Incidental Mutations

Incidental Mutation 'R3781:Stpg3'

272037

Institutional Source

Beutler Lab

Gene Symbol

Stpg3

Ensembl Gene

ENSMUSG00000036770

Gene Name

sperm tail PG rich repeat containing 3

Synonyms

4933433C11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25212207-25214637 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25213863 bp

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]

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

probably benign
Transcript: ENSMUST00000140934

SMART Domains

Protein: ENSMUSP00000115698
Gene: ENSMUSG00000013465

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205741

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bap1	T	C	14: 31,257,618	I526T	possibly damaging	Het
Calcr	T	C	6: 3,700,193	T263A	possibly damaging	Het
Cdh7	T	A	1: 110,049,004	V133E	probably benign	Het
Ddx5	T	C	11: 106,784,520	I330V	probably benign	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Gnl2	T	C	4: 125,037,606	V110A	probably damaging	Het
H2-Q10	A	G	17: 35,471,018	Y179C	possibly damaging	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Map3k20	A	G	2: 72,402,355		probably benign	Het
Mcm7	G	A	5: 138,164,736	R385W	probably damaging	Het
Mgat4c	A	G	10: 102,388,921	E332G	probably benign	Het
Nudt3	A	G	17: 27,580,808	S134P	possibly damaging	Het
Olfr1186	A	T	2: 88,526,365	T261S	probably benign	Het
Olfr1212	G	T	2: 88,958,747	E94*	probably null	Het
Olfr385	C	A	11: 73,589,013	G242C	probably damaging	Het
Olfr385	A	T	11: 73,589,368	Y123*	probably null	Het
Olfr573-ps1	T	C	7: 102,942,071	I169V	probably benign	Het
Pcnx	A	G	12: 81,996,118	T2325A	probably benign	Het
Plekha6	A	G	1: 133,294,655	E993G	probably damaging	Het
Psmd4	T	A	3: 95,036,728	Y15F	probably benign	Het
Rad23b	C	T	4: 55,382,586	T263M	probably damaging	Het
Vmn1r45	C	A	6: 89,933,817	R57L	probably benign	Het
Zfp658	G	A	7: 43,573,846	R515H	probably benign	Het

Other mutations in Stpg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Stpg3	APN	2	25213179	unclassified	probably benign
IGL01450:Stpg3	APN	2	25214610	unclassified	probably benign
R1413:Stpg3	UTSW	2	25213850	missense	probably damaging	1.00
R1612:Stpg3	UTSW	2	25213854	missense	probably benign	0.00
R3780:Stpg3	UTSW	2	25213863	missense	probably benign	0.00
R4694:Stpg3	UTSW	2	25213297	missense	probably damaging	0.96
R5029:Stpg3	UTSW	2	25214564	missense	probably damaging	0.97
R5406:Stpg3	UTSW	2	25213568	nonsense	probably null
R7202:Stpg3	UTSW	2	25214574	missense	probably damaging	1.00
R8458:Stpg3	UTSW	2	25213321	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCTGATCCATGCTTTTGTG -3'
(R):5'- AATACACCATCGGTCGCAAG -3'

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

Posted On

2015-03-25