Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Sptbn5'

380698

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

EG640524, Spnb5

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120046157-120085772 bp(-) (GRCm38)

Type of Mutation

exon

DNA Base Change (assembly)

G to A at 120050120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

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

0.3244

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably 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
R4119:Sptbn5	UTSW	2	120064529	missense	possibly damaging	0.91
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
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'- GCCCTGATGATTCATTGGACC -3'
(R):5'- ACTAGTTTCAACACTGGCCC -3'

Sequencing Primer
(F):5'- CTGATGATTCATTGGACCCTACAGAC -3'
(R):5'- AACACTGGCCCACTCTGGTTG -3'

Posted On

2016-04-15