Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Sbp'

602661

Institutional Source

Beutler Lab

Gene Symbol

Sbp

Ensembl Gene

ENSMUSG00000024128

Gene Name

spermine binding protein

Synonyms

p25

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

RF003 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

23941672-23945607 bp(+) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

AAGATGCTGACAACA to AAGATGCTGACAACAGAGATGCTGACAACA at 23945369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024940] [ENSMUST00000181985] [ENSMUST00000182519] [ENSMUST00000182868] [ENSMUST00000183017] [ENSMUST00000183155] [ENSMUST00000183252]

AlphaFold

P15501

Predicted Effect

probably benign
Transcript: ENSMUST00000024940

SMART Domains

Protein: ENSMUSP00000024940
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Jacalin	26	151	2.32e-15	SMART
low complexity region	161	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181985

SMART Domains

Protein: ENSMUSP00000138422
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Jacalin	26	151	2.32e-15	SMART
low complexity region	161	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182519

SMART Domains

Protein: ENSMUSP00000138338
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:Jacalin	26	87	3e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000182868

SMART Domains

Protein: ENSMUSP00000138491
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
Jacalin	53	178	2.32e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183017

Predicted Effect

probably benign
Transcript: ENSMUST00000183155

SMART Domains

Protein: ENSMUSP00000138341
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Jacalin	26	151	2.32e-15	SMART
low complexity region	161	198	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183252

SMART Domains

Protein: ENSMUSP00000138219
Gene: ENSMUSG00000024128

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Jacalin	26	151	2.32e-15	SMART
low complexity region	161	198	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427		probably benign	Het
Arc	G	C	15: 74,672,131	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531		probably benign	Het
Cep192	A	T	18: 67,837,956	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
Efhb	T	C	17: 53,400,891	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786		probably benign	Het
Fsip2	T	A	2: 82,991,521	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006		probably null	Het
Gnl2	T	A	4: 125,043,725		probably null	Het
Grip2	C	T	6: 91,783,593	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783		probably benign	Het
Lrrc8d	T	C	5: 105,812,641	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296		probably benign	Het
Map1b	G	T	13: 99,430,750	A1821E	unknown	Het
Maz	A	G	7: 127,025,497	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027		probably benign	Het
Mmp14	C	T	14: 54,439,014	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603		probably benign	Het
Olfr118	A	C	17: 37,672,858	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157		probably null	Het
Olfr461	T	C	6: 40,544,362	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305			Het
Olfr585	TTA	TTAGTA	7: 103,098,306		probably null	Het
Olfr710	T	A	7: 106,944,648	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016		probably benign	Het
Rp1	A	G	1: 4,344,694	V2065A	probably damaging	Het
Sepsecs	G	A	5: 52,647,191	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Tfeb	C	T	17: 47,788,078	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352		probably null	Het
Tmem94	G	A	11: 115,796,132	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	Het
Zfp407	A	T	18: 84,209,563	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442	S254P	probably damaging	Het

Other mutations in Sbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Sbp	APN	17	23945348	utr 3 prime	probably benign
IGL02035:Sbp	APN	17	23942612	missense	possibly damaging	0.73
FR4449:Sbp	UTSW	17	23945364	small insertion	probably benign
FR4737:Sbp	UTSW	17	23945382	small insertion	probably benign
FR4737:Sbp	UTSW	17	23945389	small insertion	probably benign
R0457:Sbp	UTSW	17	23945312	missense	probably benign	0.04
R1083:Sbp	UTSW	17	23942730	splice site	probably benign
R1544:Sbp	UTSW	17	23945069	missense	probably benign	0.01
R2075:Sbp	UTSW	17	23945158	splice site	probably null
R3741:Sbp	UTSW	17	23945582	utr 3 prime	probably benign
R4513:Sbp	UTSW	17	23945312	missense	probably benign	0.04
R4774:Sbp	UTSW	17	23945244	missense	probably damaging	1.00
R5338:Sbp	UTSW	17	23942422	start gained	probably benign
R5576:Sbp	UTSW	17	23945578	missense	probably benign	0.05
R7315:Sbp	UTSW	17	23945306	missense	probably benign	0.10
R7894:Sbp	UTSW	17	23942189	intron	probably benign
R9651:Sbp	UTSW	17	23945445	makesense	probably null
RF010:Sbp	UTSW	17	23945351	small insertion	probably benign
RF011:Sbp	UTSW	17	23945354	small insertion	probably benign
RF024:Sbp	UTSW	17	23945387	small insertion	probably benign
RF037:Sbp	UTSW	17	23945384	small insertion	probably benign
RF037:Sbp	UTSW	17	23945387	small insertion	probably benign
RF038:Sbp	UTSW	17	23945384	small insertion	probably benign
RF042:Sbp	UTSW	17	23945384	small insertion	probably benign
RF044:Sbp	UTSW	17	23945366	small insertion	probably benign
RF048:Sbp	UTSW	17	23945389	small insertion	probably benign
RF054:Sbp	UTSW	17	23945371	small insertion	probably benign
RF056:Sbp	UTSW	17	23945366	small insertion	probably benign
RF059:Sbp	UTSW	17	23945377	small insertion	probably benign
RF061:Sbp	UTSW	17	23945377	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTGACACTGGAGGTTCAG -3'
(R):5'- TCAGGCTCACATAGATGCACATAG -3'

Sequencing Primer
(F):5'- GTTCAGACAAGCATCTAGTGACTGTC -3'
(R):5'- GGCATTTGGGCTTTGCTCCC -3'

Posted On

2019-12-04