Mutagenetix > Incidental Mutation

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

Spnb5, EG640524

Accession Numbers

Essential gene?

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

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

119871974-119916159 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 119884903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

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
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bivm	A	G	1: 44,165,933 (GRCm39)	N128D	probably benign	Het
Cfhr4	A	G	1: 139,667,040 (GRCm39)	Y412H	probably damaging	Het
Chil3	C	A	3: 106,056,164 (GRCm39)	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,359,206 (GRCm39)	H155R	probably damaging	Het
Elapor1	A	G	3: 108,388,628 (GRCm39)	W252R	possibly damaging	Het
Etl4	T	A	2: 20,783,000 (GRCm39)	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,748,510 (GRCm39)		probably null	Het
Gfpt2	G	T	11: 49,695,832 (GRCm39)	E21*	probably null	Het
Gm10197	C	T	19: 53,360,122 (GRCm39)	V26I	possibly damaging	Het
Golim4	T	C	3: 75,863,502 (GRCm39)	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,029,784 (GRCm39)		probably benign	Het
Ino80d	A	G	1: 63,097,136 (GRCm39)		probably benign	Het
Ipo13	A	G	4: 117,758,161 (GRCm39)	M734T	probably benign	Het
Klk1b27	C	T	7: 43,704,039 (GRCm39)	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,186,324 (GRCm39)	V31A	probably benign	Het
Lrp1	A	T	10: 127,424,379 (GRCm39)	L769*	probably null	Het
Nipsnap1	A	T	11: 4,839,124 (GRCm39)	S135C	probably damaging	Het
Or4k35	C	A	2: 111,100,257 (GRCm39)	G152C	probably damaging	Het
Pparg	A	T	6: 115,467,083 (GRCm39)	H452L	probably benign	Het
Rab34	C	T	11: 78,082,264 (GRCm39)	A202V	probably damaging	Het
Ryr3	T	A	2: 112,656,228 (GRCm39)	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,582,605 (GRCm39)	Q195R	probably benign	Het
Sik2	C	A	9: 50,828,822 (GRCm39)		probably benign	Het
Slc25a36	A	G	9: 96,961,286 (GRCm39)	V111A	probably benign	Het
Slco1a8	T	C	6: 141,933,432 (GRCm39)	K451R	possibly damaging	Het
Tac2	G	A	10: 127,561,970 (GRCm39)	E25K	possibly damaging	Het
Tnc	A	G	4: 63,888,645 (GRCm39)	V1807A	probably damaging	Het
Top3b	T	C	16: 16,705,687 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,802,820 (GRCm39)	E464G	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
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
R6016:Sptbn5	UTSW	2	119,880,573 (GRCm39)	exon	noncoding transcript
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

Posted On

2013-12-09