Mutagenetix > Incidental Mutation

Incidental Mutation 'R3939:Sbpl'

308616

Institutional Source

Beutler Lab

Gene Symbol

Sbpl

Ensembl Gene

ENSMUSG00000024125

Gene Name

spermine binding protein-like

Synonyms

2310068J22Rik

MMRRC Submission

040826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R3939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24172059-24174247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24172617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 101 (I101L)

Ref Sequence

ENSEMBL: ENSMUSP00000024939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024939]

AlphaFold

Q3TUY3

Predicted Effect

probably benign
Transcript: ENSMUST00000024939
AA Change: I101L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024939
Gene: ENSMUSG00000024125
AA Change: I101L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Jacalin	41	166	6.56e-15	SMART
low complexity region	178	231	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Atp13a2	T	C	4: 140,733,733 (GRCm39)	S1041P	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Col13a1	T	C	10: 61,698,861 (GRCm39)	I491V	unknown	Het
Corin	T	C	5: 72,497,222 (GRCm39)	D531G	possibly damaging	Het
Cx3cr1	C	T	9: 119,880,710 (GRCm39)	V231I	probably benign	Het
Dennd4c	T	G	4: 86,692,517 (GRCm39)	V9G	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Faf1	T	G	4: 109,719,076 (GRCm39)	L394R	probably damaging	Het
Fgfr4	G	A	13: 55,304,307 (GRCm39)	D116N	probably null	Het
Flt3	A	G	5: 147,293,053 (GRCm39)	Y518H	possibly damaging	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gk2	T	A	5: 97,603,211 (GRCm39)	L542F	possibly damaging	Het
Gm4922	T	A	10: 18,660,362 (GRCm39)	E120V	probably damaging	Het
Hip1	A	T	5: 135,457,618 (GRCm39)	I285N	probably benign	Het
Kcnd2	C	A	6: 21,217,095 (GRCm39)	D266E	probably damaging	Het
Kdr	C	T	5: 76,133,089 (GRCm39)	W63*	probably null	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Megf8	G	A	7: 25,058,627 (GRCm39)	V2208I	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nktr	T	A	9: 121,578,135 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 90,515,849 (GRCm39)	I1207T	probably damaging	Het
Obox7	G	A	7: 14,397,972 (GRCm39)	G4D	probably benign	Het
Ogdh	G	A	11: 6,300,655 (GRCm39)	W827*	probably null	Het
Or13g1	T	C	7: 85,955,437 (GRCm39)	M295V	probably benign	Het
Or4c118	T	A	2: 88,974,474 (GRCm39)	K298*	probably null	Het
Or4k15c	A	G	14: 50,321,173 (GRCm39)	*322Q	probably null	Het
Pcdhga9	G	A	18: 37,871,995 (GRCm39)	R608H	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Serpina9	T	A	12: 103,975,151 (GRCm39)	M1L	probably benign	Het
Stxbp6	A	G	12: 44,949,641 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,908,239 (GRCm39)	V359A	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Vil1	A	G	1: 74,471,574 (GRCm39)	D785G	probably benign	Het
Zfp345	G	A	2: 150,314,473 (GRCm39)	H355Y	probably damaging	Het

Other mutations in Sbpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Sbpl	APN	17	24,172,690 (GRCm39)	missense	probably benign	0.01
IGL02525:Sbpl	APN	17	24,173,837 (GRCm39)	missense	unknown
R1443:Sbpl	UTSW	17	24,172,328 (GRCm39)	missense	unknown
R1466:Sbpl	UTSW	17	24,172,228 (GRCm39)	missense	unknown
R1466:Sbpl	UTSW	17	24,172,228 (GRCm39)	missense	unknown
R1751:Sbpl	UTSW	17	24,173,777 (GRCm39)	splice site	probably null
R1893:Sbpl	UTSW	17	24,172,241 (GRCm39)	missense	unknown
R4399:Sbpl	UTSW	17	24,173,860 (GRCm39)	missense	unknown
R4421:Sbpl	UTSW	17	24,173,860 (GRCm39)	missense	unknown
R4783:Sbpl	UTSW	17	24,172,304 (GRCm39)	missense	unknown
R5526:Sbpl	UTSW	17	24,173,623 (GRCm39)	missense	probably damaging	0.98
R6181:Sbpl	UTSW	17	24,172,466 (GRCm39)	missense	probably damaging	0.96
R7055:Sbpl	UTSW	17	24,172,276 (GRCm39)	missense	unknown
R7102:Sbpl	UTSW	17	24,173,608 (GRCm39)	nonsense	probably null
R7162:Sbpl	UTSW	17	24,172,439 (GRCm39)	missense	possibly damaging	0.73
R7818:Sbpl	UTSW	17	24,172,236 (GRCm39)	missense	unknown
R8084:Sbpl	UTSW	17	24,172,244 (GRCm39)	missense	unknown
R8983:Sbpl	UTSW	17	24,172,253 (GRCm39)	missense	unknown
Z1088:Sbpl	UTSW	17	24,172,518 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCTTTCACAGGCTCTG -3'
(R):5'- GCCTGAACTGTGAACTAGGAC -3'

Sequencing Primer
(F):5'- TCTTTCACAGGCTCTGGGGAC -3'
(R):5'- CTGTGAACTAGGACCAGAATAGG -3'

Posted On

2015-04-17