Mutagenetix > Incidental Mutations

Incidental Mutation 'R4421:Spopl'

327081

Institutional Source

Beutler Lab

Gene Symbol

Spopl

Ensembl Gene

ENSMUSG00000026771

Gene Name

speckle-type POZ protein-like

Synonyms

E430033K04Rik, 4921517N04Rik

MMRRC Submission

041142-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23506220-23572106 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23517945 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 241 (V241M)

Ref Sequence

ENSEMBL: ENSMUSP00000114974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028110] [ENSMUST00000132484] [ENSMUST00000132827]

Predicted Effect

probably benign
Transcript: ENSMUST00000028110

SMART Domains

Protein: ENSMUSP00000141519
Gene: ENSMUSG00000026771

Domain	Start	End	E-Value	Type
MATH	2	108	5.9e-17	SMART
low complexity region	141	152	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132484
AA Change: V241M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114974
Gene: ENSMUSG00000026771
AA Change: V241M

Domain	Start	End	E-Value	Type
MATH	36	142	9.46e-15	SMART
BTB	200	297	5.99e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132827

SMART Domains

Protein: ENSMUSP00000142047
Gene: ENSMUSG00000026771

Domain	Start	End	E-Value	Type
MATH	36	142	5.9e-17	SMART
low complexity region	175	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195415

Meta Mutation Damage Score

0.2768

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no gross morphological and skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	C	9: 106,435,713		probably null	Het
Adgrv1	T	C	13: 81,566,302	E234G	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
C1s2	T	C	6: 124,625,215	D673G	probably benign	Het
Capza3	G	A	6: 140,042,042	M122I	probably benign	Het
Cfap44	T	C	16: 44,422,437	S735P	probably damaging	Het
Cntn3	A	G	6: 102,464,547	F13L	probably damaging	Het
Col6a5	A	T	9: 105,928,473	M1078K	unknown	Het
Colgalt2	A	T	1: 152,485,012	I267F	probably damaging	Het
Cpped1	T	C	16: 11,805,357	*299W	probably null	Het
Cyp3a59	A	G	5: 146,104,903		probably null	Het
Ddx42	T	A	11: 106,231,138	Y160N	probably damaging	Het
Dhx35	A	T	2: 158,806,401	R60W	probably damaging	Het
Gbp10	T	C	5: 105,224,651		probably null	Het
Gtf2i	T	C	5: 134,255,037	T467A	possibly damaging	Het
Hip1r	G	C	5: 123,997,862	G542A	possibly damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Kcnq3	T	C	15: 65,995,511	Y761C	probably benign	Het
Krt13	T	G	11: 100,118,935	T340P	possibly damaging	Het
Map2k5	A	G	9: 63,164,130	C435R	probably damaging	Het
Ms4a4c	T	A	19: 11,416,375	I53K	probably damaging	Het
Myh15	T	A	16: 49,109,344	F544L	probably damaging	Het
Neurod2	G	T	11: 98,328,200	S46*	probably null	Het
Nsd3	T	A	8: 25,641,272	S218T	probably damaging	Het
Olfr1184	A	T	2: 88,487,241	N170Y	probably damaging	Het
Olfr706	G	T	7: 106,886,453	D121E	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Prrg3	A	T	X: 71,967,309	S141C	probably damaging	Het
Ranbp17	A	T	11: 33,475,056	D433E	probably benign	Het
Rbm28	T	C	6: 29,154,837	D278G	probably damaging	Het
Sbpl	A	G	17: 23,954,886	L8P	unknown	Het
Tdrd3	A	G	14: 87,486,283	E311G	probably damaging	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r72	T	C	7: 85,738,500	N619D	probably damaging	Het
Xab2	C	A	8: 3,614,244		probably null	Het

Other mutations in Spopl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Spopl	APN	2	23537631	missense	possibly damaging	0.88
P4748:Spopl	UTSW	2	23511443	missense	probably benign	0.01
PIT4453001:Spopl	UTSW	2	23545449	missense	probably damaging	0.99
R0738:Spopl	UTSW	2	23537521	missense	probably benign	0.04
R2358:Spopl	UTSW	2	23537380	missense	probably damaging	1.00
R3711:Spopl	UTSW	2	23537380	missense	probably damaging	1.00
R3712:Spopl	UTSW	2	23537380	missense	probably damaging	1.00
R4097:Spopl	UTSW	2	23511401	missense	probably benign	0.01
R4400:Spopl	UTSW	2	23517945	missense	probably damaging	0.97
R4497:Spopl	UTSW	2	23517945	missense	probably damaging	0.97
R4498:Spopl	UTSW	2	23517945	missense	probably damaging	0.97
R4570:Spopl	UTSW	2	23537485	nonsense	probably null
R4702:Spopl	UTSW	2	23515297	splice site	probably null
R6919:Spopl	UTSW	2	23517861	missense	probably benign	0.06
R7387:Spopl	UTSW	2	23537509	missense	probably benign
R7921:Spopl	UTSW	2	23545478	missense	probably benign
X0067:Spopl	UTSW	2	23544867	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCTTCCAATAAATAGCAAGTTGGAG -3'
(R):5'- AGGTTCTCACTTAGTAGCTTCAC -3'

Sequencing Primer
(F):5'- AGCAAGTTGGAGGATTTTTGTTTTTG -3'
(R):5'- AGTAGCTTCACTATCTCTGTATGTAC -3'

Posted On

2015-07-07