Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Sptbn5'

487608

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

EG640524, Spnb5

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120046157-120085772 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 120059417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106384 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110756

SMART Domains

Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899

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

SMART Domains

Protein: ENSMUSP00000115497
Gene: ENSMUSG00000074899
AA Change: R235K

Domain	Start	End	E-Value	Type
Blast:SPEC	2	28	6e-8	BLAST
SPEC	34	128	2.43e-3	SMART
SPEC	134	234	9.38e-19	SMART
Blast:SPEC	240	280	2e-20	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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	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
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
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
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'- TAAGGAAACATGGATGCTTGCG -3'
(R):5'- ACTCCAAAGCACTGATGGTTG -3'

Sequencing Primer
(F):5'- GAAACATGGATGCTTGCGATCTCC -3'
(R):5'- CCAAAGCACTGATGGTTGAGGTAAG -3'

Posted On

2017-10-10