Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Sptbn5'

353727

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

Spnb5, EG640524

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119871974-119916159 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 119907689 bp (GRCm39)

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

noncoding transcript
Transcript: ENSMUST00000134935

SMART Domains

Protein: ENSMUSP00000116766
Gene: ENSMUSG00000074899

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
CH	53	154	1.9e-16	SMART
CH	176	274	3.02e-19	SMART
SPEC	306	412	8.64e-1	SMART
SPEC	426	527	3.85e-6	SMART
SPEC	533	632	1.38e-7	SMART
SPEC	638	738	9.46e-15	SMART
coiled coil region	780	809	N/A	INTRINSIC

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,210,985 (GRCm39)	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,775,261 (GRCm39)	V189A	probably damaging	Het
Akip1	C	A	7: 109,304,193 (GRCm39)	S90*	probably null	Het
Amn	A	T	12: 111,242,502 (GRCm39)	D439V	probably benign	Het
Arhgap17	T	A	7: 122,920,826 (GRCm39)	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,069,400 (GRCm39)	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,203,308 (GRCm39)	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,143,453 (GRCm39)	P462T	probably damaging	Het
Bves	C	T	10: 45,230,936 (GRCm39)		probably null	Het
Cabp7	T	A	11: 4,689,265 (GRCm39)	K127*	probably null	Het
Cacna1h	A	G	17: 25,612,884 (GRCm39)	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,891,787 (GRCm39)	H245R	probably damaging	Het
Celsr1	T	A	15: 85,816,661 (GRCm39)	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,207,372 (GRCm39)	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Crim1	G	T	17: 78,610,454 (GRCm39)	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,681,385 (GRCm39)	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,490,126 (GRCm39)	P43L	probably damaging	Het
Dpf2	T	C	19: 5,957,040 (GRCm39)	H16R	probably damaging	Het
Dsp	A	G	13: 38,375,595 (GRCm39)	T1127A	probably damaging	Het
Dst	T	C	1: 34,240,204 (GRCm39)	L1525P	probably damaging	Het
Ehf	T	A	2: 103,097,471 (GRCm39)	D192V	probably damaging	Het
Frem1	G	T	4: 82,938,868 (GRCm39)	N71K	probably damaging	Het
Furin	T	A	7: 80,043,195 (GRCm39)	T339S	probably benign	Het
Gad1	T	A	2: 70,431,064 (GRCm39)	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,871,676 (GRCm39)	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258 (GRCm39)		noncoding transcript	Homo
Gpn3	A	C	5: 122,516,638 (GRCm39)	D89A	possibly damaging	Het
Gpr18	T	A	14: 122,149,090 (GRCm39)	R312*	probably null	Het
Gsap	T	C	5: 21,451,969 (GRCm39)		probably benign	Het
H2-Ab1	C	A	17: 34,483,783 (GRCm39)	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,328,297 (GRCm39)	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,658,714 (GRCm39)		probably benign	Het
Insr	T	C	8: 3,211,709 (GRCm39)	H1104R	probably benign	Het
Ipo13	A	T	4: 117,758,773 (GRCm39)	N697K	probably benign	Het
Iqcm	T	G	8: 76,489,617 (GRCm39)	F362V	probably damaging	Het
Irak4	T	C	15: 94,464,704 (GRCm39)	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,710,477 (GRCm39)	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,001,280 (GRCm39)	K829R	probably damaging	Het
Kdr	T	C	5: 76,129,452 (GRCm39)	N145S	possibly damaging	Het
Klra9	A	T	6: 130,162,480 (GRCm39)	D185E	probably benign	Het
Lcn12	T	C	2: 25,383,333 (GRCm39)	N15S	probably benign	Het
Mei4	T	A	9: 81,809,370 (GRCm39)	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223 (GRCm39)	S320T	probably benign	Het
Mrps5	C	G	2: 127,432,690 (GRCm39)	A37G	probably benign	Het
Mttp	A	G	3: 137,798,496 (GRCm39)	I800T	possibly damaging	Het
Nags	A	T	11: 102,039,022 (GRCm39)	Q451L	probably damaging	Het
Nbea	T	C	3: 55,965,486 (GRCm39)	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,941,393 (GRCm39)	E145G	possibly damaging	Het
Neb	T	G	2: 52,194,047 (GRCm39)	S660R	possibly damaging	Het
Nppb	A	G	4: 148,070,753 (GRCm39)	K43E	probably benign	Het
Nup188	A	T	2: 30,220,645 (GRCm39)	Q906L	probably benign	Het
Or10k2	T	A	8: 84,268,489 (GRCm39)	S239T	probably damaging	Het
Or4c12	T	C	2: 89,774,213 (GRCm39)	D82G	probably damaging	Het
Or8c17	C	A	9: 38,180,710 (GRCm39)	N292K	probably damaging	Het
Or9s23	T	C	1: 92,501,052 (GRCm39)	I53T	possibly damaging	Het
Ovch2	T	A	7: 107,395,755 (GRCm39)	I88F	possibly damaging	Het
Palm3	A	G	8: 84,756,564 (GRCm39)	E692G	probably benign	Het
Pcsk6	T	C	7: 65,633,501 (GRCm39)	F578L	probably damaging	Het
Piezo2	A	C	18: 63,203,034 (GRCm39)	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,059,873 (GRCm39)	V130A	probably benign	Het
Proca1	T	C	11: 78,095,724 (GRCm39)	Y32H	probably damaging	Het
Prtg	T	A	9: 72,798,080 (GRCm39)	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,307,594 (GRCm39)	M455L	probably benign	Het
Rasa1	T	C	13: 85,374,754 (GRCm39)	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,295,074 (GRCm39)	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,801,213 (GRCm39)	D483G	probably benign	Het
Setd7	T	C	3: 51,457,776 (GRCm39)	D17G	probably damaging	Het
Sipa1l2	C	T	8: 126,217,984 (GRCm39)	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,306,939 (GRCm39)	Y165C	probably damaging	Het
Smg5	T	C	3: 88,249,776 (GRCm39)	F68L	possibly damaging	Het
Stk3	A	G	15: 35,114,711 (GRCm39)	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,714,247 (GRCm39)	A235T	possibly damaging	Het
Tenm2	C	T	11: 35,939,924 (GRCm39)	A1400T	probably benign	Het
Tet1	T	A	10: 62,674,570 (GRCm39)	N1169Y	probably benign	Het
Treml2	T	A	17: 48,616,425 (GRCm39)		probably null	Het
Tspan11	A	G	6: 127,915,198 (GRCm39)	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,023,742 (GRCm39)	A543V	probably damaging	Het
Zfp148	T	A	16: 33,317,189 (GRCm39)	D578E	probably damaging	Het
Zfp735	A	T	11: 73,602,682 (GRCm39)	N542I	probably damaging	Het
Zfp735	A	T	11: 73,602,681 (GRCm39)	N542Y	probably damaging	Het
Zfp869	T	A	8: 70,160,793 (GRCm39)	E65D	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTGATCAGACCTGCCCCTTAG -3'
(R):5'- ATGCACTGACCACTCATCTCTG -3'

Sequencing Primer
(F):5'- AGGCATGATTTTCCCAGAATGGC -3'
(R):5'- CACAGTCTATGGGCAACAGCTG -3'

Posted On

2015-10-21