Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Sptbn5'

90616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

EG640524, Spnb5

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

120046157-120085772 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 120054422 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

Predicted Effect

probably benign
Transcript: ENSMUST00000125737

SMART Domains

Protein: ENSMUSP00000115497
Gene: ENSMUSG00000074899

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Sptbn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Sptbn5	APN	2	120054467	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
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

Posted On

2013-12-09