Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Sptbn5'

345994

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

EG640524, Spnb5

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

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

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120046157-120085772 bp(-) (GRCm38)

Type of Mutation

splice site (1 bp from exon)

DNA Base Change (assembly)

C to T at 120067446 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 null
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

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

0.9493

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCTCTGGGCAACTTGAGTC -3'
(R):5'- TTGTCTCCATTCCAGGCTGG -3'

Sequencing Primer
(F):5'- GGCAACTTGAGTCGTGATAATCAC -3'
(R):5'- CTGGGAAAGAACTGTTGCATAGC -3'

Posted On

2015-09-25