Mutagenetix > Incidental Mutation

Incidental Mutation 'R6016:Sptbn5'

478589

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

Spnb5, EG640524

MMRRC Submission

043255-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R6016 (G1)

Quality Score

146.008

Status

Not validated

Chromosome

Chromosomal Location

119871974-119916159 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

G to T at 119880573 bp (GRCm39)

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	C	15: 77,620,058 (GRCm39)	S285P	probably damaging	Het
Casz1	C	A	4: 149,019,041 (GRCm39)	N447K	probably damaging	Het
Cltb	T	C	13: 54,754,480 (GRCm39)	T71A	possibly damaging	Het
Dcaf12	A	G	4: 41,313,267 (GRCm39)	F93L	probably damaging	Het
Dnah5	T	C	15: 28,328,030 (GRCm39)	Y2135H	probably damaging	Het
Entpd2	C	T	2: 25,288,568 (GRCm39)	R191W	probably damaging	Het
Gm17067	G	T	7: 42,357,654 (GRCm39)	P283T	probably benign	Het
Gm3250	A	G	10: 77,618,367 (GRCm39)		probably benign	Het
Gne	T	C	4: 44,039,063 (GRCm39)	E532G	probably damaging	Het
Gsdmc3	T	G	15: 63,740,261 (GRCm39)	D86A	probably benign	Het
Hs3st2	A	G	7: 121,099,922 (GRCm39)	H256R	probably damaging	Het
Il19	T	A	1: 130,863,718 (GRCm39)	D16V	probably damaging	Het
Lats2	A	T	14: 57,971,632 (GRCm39)	N14K	probably damaging	Het
Mill2	G	T	7: 18,590,373 (GRCm39)	S151I	probably benign	Het
Ncapg2	G	A	12: 116,390,227 (GRCm39)	R392H	probably damaging	Het
Nop56	T	C	2: 130,118,545 (GRCm39)		probably null	Het
Or14j8	A	T	17: 38,262,967 (GRCm39)	V316D	probably benign	Het
Or2bd2	A	T	7: 6,443,613 (GRCm39)	H238L	probably benign	Het
Or5p5	A	T	7: 107,414,219 (GRCm39)	I143F	probably benign	Het
Pde1a	T	C	2: 79,695,406 (GRCm39)	R446G	probably benign	Het
Pes1	T	A	11: 3,928,004 (GRCm39)	M552K	possibly damaging	Het
Plxnb2	T	A	15: 89,045,225 (GRCm39)	T1074S	possibly damaging	Het
Psg23	G	T	7: 18,346,112 (GRCm39)	H194Q	probably benign	Het
Rprd2	A	G	3: 95,694,685 (GRCm39)	V116A	probably damaging	Het
Shkbp1	A	G	7: 27,053,826 (GRCm39)	V124A	possibly damaging	Het
Slc38a8	A	T	8: 120,221,044 (GRCm39)		probably null	Het
Slitrk6	A	G	14: 110,987,958 (GRCm39)	V583A	probably benign	Het
Stab1	A	T	14: 30,880,950 (GRCm39)	I614N	probably damaging	Het
Tgm6	A	G	2: 129,983,148 (GRCm39)	T246A	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,734 (GRCm39)	L187P	probably damaging	Het
Vmn1r157	A	G	7: 22,461,272 (GRCm39)	R51G	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,453 (GRCm39)	I610K	probably damaging	Het

Other mutations in Sptbn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Sptbn5	APN	2	119,884,948 (GRCm39)	unclassified	probably benign
IGL01552:Sptbn5	APN	2	119,884,903 (GRCm39)	unclassified	probably benign
IGL01800:Sptbn5	APN	2	119,886,908 (GRCm39)	unclassified	probably benign
IGL02156:Sptbn5	APN	2	119,878,098 (GRCm39)	unclassified	probably benign
R0020:Sptbn5	UTSW	2	119,896,112 (GRCm39)	missense	probably damaging	0.96
R0690:Sptbn5	UTSW	2	119,893,156 (GRCm39)	splice site	probably null
R1121:Sptbn5	UTSW	2	119,899,871 (GRCm39)	splice site	probably null
R1223:Sptbn5	UTSW	2	119,902,525 (GRCm39)	missense	probably damaging	0.99
R1405:Sptbn5	UTSW	2	119,881,097 (GRCm39)	splice site	noncoding transcript
R1852:Sptbn5	UTSW	2	119,902,125 (GRCm39)	missense	possibly damaging	0.52
R1927:Sptbn5	UTSW	2	119,900,943 (GRCm39)	missense	probably benign	0.00
R2570:Sptbn5	UTSW	2	119,879,121 (GRCm39)	exon	noncoding transcript
R3898:Sptbn5	UTSW	2	119,887,691 (GRCm39)	exon	noncoding transcript
R3976:Sptbn5	UTSW	2	119,878,742 (GRCm39)	splice site	noncoding transcript
R4092:Sptbn5	UTSW	2	119,897,532 (GRCm39)	missense	probably damaging	0.99
R4119:Sptbn5	UTSW	2	119,895,010 (GRCm39)	missense	possibly damaging	0.91
R4120:Sptbn5	UTSW	2	119,895,010 (GRCm39)	missense	possibly damaging	0.91
R4351:Sptbn5	UTSW	2	119,913,680 (GRCm39)	exon	noncoding transcript
R4352:Sptbn5	UTSW	2	119,913,680 (GRCm39)	exon	noncoding transcript
R4364:Sptbn5	UTSW	2	119,899,136 (GRCm39)	missense	probably damaging	1.00
R4371:Sptbn5	UTSW	2	119,896,475 (GRCm39)	missense	probably damaging	1.00
R4606:Sptbn5	UTSW	2	119,897,927 (GRCm39)	splice site	probably null
R4616:Sptbn5	UTSW	2	119,879,238 (GRCm39)	exon	noncoding transcript
R4687:Sptbn5	UTSW	2	119,907,689 (GRCm39)	unclassified	probably benign
R4693:Sptbn5	UTSW	2	119,889,897 (GRCm39)	unclassified	probably benign
R4762:Sptbn5	UTSW	2	119,907,703 (GRCm39)	unclassified	noncoding transcript
R4798:Sptbn5	UTSW	2	119,889,622 (GRCm39)	unclassified	probably benign
R4818:Sptbn5	UTSW	2	119,898,449 (GRCm39)	missense	probably benign	0.05
R4822:Sptbn5	UTSW	2	119,898,449 (GRCm39)	missense	probably benign	0.05
R4825:Sptbn5	UTSW	2	119,886,374 (GRCm39)	unclassified	probably benign
R4933:Sptbn5	UTSW	2	119,880,601 (GRCm39)	exon	noncoding transcript
R4970:Sptbn5	UTSW	2	119,882,258 (GRCm39)	exon	noncoding transcript
R5141:Sptbn5	UTSW	2	119,892,212 (GRCm39)	missense	probably benign	0.03
R5209:Sptbn5	UTSW	2	119,902,483 (GRCm39)	missense	probably benign	0.09
R5225:Sptbn5	UTSW	2	119,915,812 (GRCm39)	unclassified	probably benign
R5227:Sptbn5	UTSW	2	119,915,812 (GRCm39)	unclassified	probably benign
R5421:Sptbn5	UTSW	2	119,911,261 (GRCm39)	critical splice donor site	noncoding transcript
R5495:Sptbn5	UTSW	2	119,876,965 (GRCm39)	unclassified	probably benign
R5498:Sptbn5	UTSW	2	119,907,119 (GRCm39)	unclassified	probably benign
R5511:Sptbn5	UTSW	2	119,890,202 (GRCm39)	unclassified	probably benign
R5596:Sptbn5	UTSW	2	119,876,965 (GRCm39)	unclassified	probably benign
R5616:Sptbn5	UTSW	2	119,876,965 (GRCm39)	unclassified	probably benign
R5617:Sptbn5	UTSW	2	119,876,965 (GRCm39)	unclassified	probably benign
R5619:Sptbn5	UTSW	2	119,880,613 (GRCm39)	exon	noncoding transcript
R5625:Sptbn5	UTSW	2	119,910,273 (GRCm39)	exon	noncoding transcript
R5636:Sptbn5	UTSW	2	119,887,885 (GRCm39)	unclassified	probably benign
R5646:Sptbn5	UTSW	2	119,879,292 (GRCm39)	splice site	noncoding transcript
R5666:Sptbn5	UTSW	2	119,916,048 (GRCm39)	unclassified	probably benign
R5670:Sptbn5	UTSW	2	119,916,048 (GRCm39)	unclassified	probably benign
R5715:Sptbn5	UTSW	2	119,902,985 (GRCm39)	missense	probably damaging	1.00
R5774:Sptbn5	UTSW	2	119,880,939 (GRCm39)	exon	noncoding transcript
R5885:Sptbn5	UTSW	2	119,907,144 (GRCm39)	unclassified	probably benign
R6183:Sptbn5	UTSW	2	119,889,898 (GRCm39)	unclassified	probably benign
R6184:Sptbn5	UTSW	2	119,889,898 (GRCm39)	unclassified	probably benign
R6219:Sptbn5	UTSW	2	119,907,803 (GRCm39)	unclassified	probably benign
R6335:Sptbn5	UTSW	2	119,884,900 (GRCm39)	unclassified	probably benign
R6383:Sptbn5	UTSW	2	119,876,750 (GRCm39)	unclassified	probably benign
R6450:Sptbn5	UTSW	2	119,877,616 (GRCm39)	unclassified	probably benign
R6516:Sptbn5	UTSW	2	119,878,431 (GRCm39)	unclassified	probably benign
R6523:Sptbn5	UTSW	2	119,896,095 (GRCm39)	splice site	probably null
R6657:Sptbn5	UTSW	2	119,906,881 (GRCm39)	unclassified	probably benign
R6661:Sptbn5	UTSW	2	119,902,856 (GRCm39)	missense	possibly damaging	0.62
R8208:Sptbn5	UTSW	2	119,878,326 (GRCm39)	nonsense	noncoding transcript
R8261:Sptbn5	UTSW	2	119,877,616 (GRCm39)	missense	noncoding transcript
R8300:Sptbn5	UTSW	2	119,878,058 (GRCm39)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- GCCCTGATGATTCATTGGACCC -3'
(R):5'- AGTTTCAACACTGGCCCACTC -3'

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

Posted On

2017-06-26