Mutagenetix > Incidental Mutation

Incidental Mutation 'R4119:Sptbn5'

315215

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

EG640524, Spnb5

MMRRC Submission

040992-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R4119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120046157-120085772 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120064529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 798 (D798V)

Ref Sequence

ENSEMBL: ENSMUSP00000106384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110756]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110756
AA Change: D798V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899
AA Change: D798V

Domain	Start	End	E-Value	Type
SPEC	13	111	6.45e-8	SMART
Blast:SPEC	117	206	9e-12	BLAST
SPEC	219	323	3.76e-1	SMART
SPEC	325	425	3.48e-13	SMART
SPEC	431	530	1.09e-5	SMART
SPEC	536	631	1.22e-1	SMART
SPEC	637	737	1.78e-10	SMART
SPEC	743	837	4.73e-15	SMART
SPEC	843	944	4.24e-17	SMART
SPEC	950	1051	1.36e-15	SMART
Blast:SPEC	1057	1130	2e-40	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156159

SMART Domains

Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899

Domain	Start	End	E-Value	Type
SPEC	60	160	2.54e-6	SMART
SPEC	166	266	1.32e-13	SMART
SPEC	272	372	4.41e-15	SMART
SPEC	378	477	1.56e-15	SMART
SPEC	483	583	1.11e-11	SMART
SPEC	589	689	8.47e-26	SMART
SPEC	695	795	5.56e-12	SMART
SPEC	801	902	7.01e-9	SMART
SPEC	908	1032	4.44e-1	SMART
SPEC	1038	1138	3.73e-13	SMART
Pfam:Spectrin	1141	1206	2.2e-6	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,904	L39P	probably damaging	Het
Abcc1	A	G	16: 14,394,013	M138V	probably benign	Het
Abl1	T	A	2: 31,801,727	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,544,574	T189I	probably benign	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aplnr	T	C	2: 85,136,966	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 123,306,994	F313S	probably damaging	Het
Arid1b	T	C	17: 4,995,794		probably benign	Het
Bcas1	G	C	2: 170,378,815	P394A	probably benign	Het
Ccdc116	A	G	16: 17,142,187	S213P	probably damaging	Het
Cdh15	T	C	8: 122,863,423	V365A	probably damaging	Het
Cenpf	A	G	1: 189,653,045	I2346T	probably benign	Het
Chd7	A	G	4: 8,785,658		probably benign	Het
Ezh2	A	C	6: 47,544,548	N390K	probably benign	Het
Fbxo7	C	A	10: 86,021,895		probably benign	Het
Fibin	A	G	2: 110,362,690	Y36H	probably damaging	Het
Gm597	A	T	1: 28,777,973	V326D	probably damaging	Het
Gpr37	C	T	6: 25,688,426	R224H	possibly damaging	Het
Hars2	A	T	18: 36,790,488	N363I	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Itpr1	G	A	6: 108,394,355	D1140N	probably benign	Het
Lrig2	A	G	3: 104,467,195	V190A	probably benign	Het
Ltk	T	A	2: 119,757,948		probably benign	Het
Morc2a	C	A	11: 3,683,868	T660N	probably benign	Het
Msh3	A	G	13: 92,354,011		probably benign	Het
Myo15b	T	C	11: 115,873,492	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,291,870	I2213L	probably damaging	Het
Olfr1122	T	A	2: 87,387,843	M46K	possibly damaging	Het
Olfr1155	A	G	2: 87,943,443	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,217,841	T138A	probably benign	Het
Pirb	T	C	7: 3,717,575	D308G	probably damaging	Het
Pkn3	A	G	2: 30,083,037		probably benign	Het
Ripor1	T	A	8: 105,618,857		probably benign	Het
Ryr2	T	C	13: 11,779,267	T942A	probably benign	Het
Synpo2	T	A	3: 123,117,150	D282V	probably damaging	Het
Tnik	T	C	3: 28,666,175	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,014,189	K698T	probably benign	Het
Ttc23l	A	C	15: 10,539,920	V159G	probably damaging	Het
Urb2	T	A	8: 124,047,240	D1503E	probably benign	Het
Usp29	T	A	7: 6,962,806	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,023,674	H443Y	probably benign	Het
Zfp24	A	G	18: 24,014,569	Y229H	possibly damaging	Het
Zfp472	T	A	17: 32,978,215	Y421*	probably null	Het
Zkscan3	T	C	13: 21,393,949	E256G	possibly damaging	Het

Other mutations in Sptbn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Sptbn5	APN	2	120054467	unclassified	probably benign
IGL01552:Sptbn5	APN	2	120054422	unclassified	probably benign
IGL01800:Sptbn5	APN	2	120056427	unclassified	probably benign
IGL02156:Sptbn5	APN	2	120047617	unclassified	probably benign
R0020:Sptbn5	UTSW	2	120065631	missense	probably damaging	0.96
R0690:Sptbn5	UTSW	2	120062675	splice site	probably null
R1121:Sptbn5	UTSW	2	120069390	splice site	probably null
R1223:Sptbn5	UTSW	2	120072044	missense	probably damaging	0.99
R1405:Sptbn5	UTSW	2	120050616	splice site	noncoding transcript
R1852:Sptbn5	UTSW	2	120071644	missense	possibly damaging	0.52
R1927:Sptbn5	UTSW	2	120070462	missense	probably benign	0.00
R2570:Sptbn5	UTSW	2	120048640	exon	noncoding transcript
R3898:Sptbn5	UTSW	2	120057210	exon	noncoding transcript
R3976:Sptbn5	UTSW	2	120048261	splice site	noncoding transcript
R4092:Sptbn5	UTSW	2	120067051	missense	probably damaging	0.99
R4120:Sptbn5	UTSW	2	120064529	missense	possibly damaging	0.91
R4351:Sptbn5	UTSW	2	120083199	exon	noncoding transcript
R4352:Sptbn5	UTSW	2	120083199	exon	noncoding transcript
R4364:Sptbn5	UTSW	2	120068655	missense	probably damaging	1.00
R4371:Sptbn5	UTSW	2	120065994	missense	probably damaging	1.00
R4606:Sptbn5	UTSW	2	120067446	splice site	probably null
R4616:Sptbn5	UTSW	2	120048757	exon	noncoding transcript
R4687:Sptbn5	UTSW	2	120077208	unclassified	probably benign
R4693:Sptbn5	UTSW	2	120059416	unclassified	probably benign
R4762:Sptbn5	UTSW	2	120077222	unclassified	noncoding transcript
R4798:Sptbn5	UTSW	2	120059141	unclassified	probably benign
R4818:Sptbn5	UTSW	2	120067968	missense	probably benign	0.05
R4822:Sptbn5	UTSW	2	120067968	missense	probably benign	0.05
R4825:Sptbn5	UTSW	2	120055893	unclassified	probably benign
R4933:Sptbn5	UTSW	2	120050120	exon	noncoding transcript
R4970:Sptbn5	UTSW	2	120051777	exon	noncoding transcript
R5141:Sptbn5	UTSW	2	120061731	missense	probably benign	0.03
R5209:Sptbn5	UTSW	2	120072002	missense	probably benign	0.09
R5225:Sptbn5	UTSW	2	120085331	unclassified	probably benign
R5227:Sptbn5	UTSW	2	120085331	unclassified	probably benign
R5421:Sptbn5	UTSW	2	120080780	critical splice donor site	noncoding transcript
R5495:Sptbn5	UTSW	2	120046484	unclassified	probably benign
R5498:Sptbn5	UTSW	2	120076638	unclassified	probably benign
R5511:Sptbn5	UTSW	2	120059721	unclassified	probably benign
R5596:Sptbn5	UTSW	2	120046484	unclassified	probably benign
R5616:Sptbn5	UTSW	2	120046484	unclassified	probably benign
R5617:Sptbn5	UTSW	2	120046484	unclassified	probably benign
R5619:Sptbn5	UTSW	2	120050132	exon	noncoding transcript
R5625:Sptbn5	UTSW	2	120079792	exon	noncoding transcript
R5636:Sptbn5	UTSW	2	120057404	unclassified	probably benign
R5646:Sptbn5	UTSW	2	120048811	splice site	noncoding transcript
R5666:Sptbn5	UTSW	2	120085567	unclassified	probably benign
R5670:Sptbn5	UTSW	2	120085567	unclassified	probably benign
R5715:Sptbn5	UTSW	2	120072504	missense	probably damaging	1.00
R5774:Sptbn5	UTSW	2	120050458	exon	noncoding transcript
R5885:Sptbn5	UTSW	2	120076663	unclassified	probably benign
R6016:Sptbn5	UTSW	2	120050092	exon	noncoding transcript
R6183:Sptbn5	UTSW	2	120059417	unclassified	probably benign
R6184:Sptbn5	UTSW	2	120059417	unclassified	probably benign
R6219:Sptbn5	UTSW	2	120077322	unclassified	probably benign
R6335:Sptbn5	UTSW	2	120054419	unclassified	probably benign
R6383:Sptbn5	UTSW	2	120046269	unclassified	probably benign
R6450:Sptbn5	UTSW	2	120047135	unclassified	probably benign
R6516:Sptbn5	UTSW	2	120047950	unclassified	probably benign
R6523:Sptbn5	UTSW	2	120065614	splice site	probably null
R6657:Sptbn5	UTSW	2	120076400	unclassified	probably benign
R6661:Sptbn5	UTSW	2	120072375	missense	possibly damaging	0.62
R8208:Sptbn5	UTSW	2	120047845	nonsense	noncoding transcript
R8261:Sptbn5	UTSW	2	120047135	missense	noncoding transcript
R8300:Sptbn5	UTSW	2	120047577	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- AACCCTAAAGGCCTGGTTCC -3'
(R):5'- TGGAGGAGTACACTGGTAACTG -3'

Sequencing Primer
(F):5'- GGTTCCCACCAACATAGGG -3'
(R):5'- TACACTGGTAACTGAATGAGTGG -3'

Posted On

2015-05-14