Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Sptbn5'

208169

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

Spnb5, EG640524

MMRRC Submission

039876-MU

Accession Numbers

Essential gene?

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

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119871974-119916159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119902125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 126 (I126M)

Ref Sequence

ENSEMBL: ENSMUSP00000106384 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110756
AA Change: I126M

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106384
Gene: ENSMUSG00000074899
AA Change: I126M

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,246,629 (GRCm39)		probably null	Het
4930433I11Rik	T	A	7: 40,643,037 (GRCm39)	D326E	probably benign	Het
Abca8a	T	C	11: 109,960,212 (GRCm39)	D676G	probably damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acsl6	T	C	11: 54,251,902 (GRCm39)	I683T	probably damaging	Het
Adgrg5	A	T	8: 95,664,428 (GRCm39)	Y345F	probably damaging	Het
Alg6	T	G	4: 99,634,599 (GRCm39)	F114V	probably benign	Het
Ank2	A	C	3: 126,791,500 (GRCm39)		probably null	Het
Ankrd24	A	T	10: 81,478,775 (GRCm39)		probably benign	Het
Ano8	T	C	8: 71,936,131 (GRCm39)	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Bltp2	A	G	11: 78,159,299 (GRCm39)	D499G	probably damaging	Het
Bmpr1b	A	T	3: 141,563,163 (GRCm39)		probably null	Het
C3	A	G	17: 57,529,823 (GRCm39)	V2A	probably damaging	Het
Capn1	A	G	19: 6,059,133 (GRCm39)	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,812,499 (GRCm39)	E85G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chl1	A	T	6: 103,676,120 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,146 (GRCm39)	P38L	probably benign	Het
Clec4a2	G	T	6: 123,116,084 (GRCm39)	E124*	probably null	Het
Cmtr1	T	C	17: 29,921,229 (GRCm39)	V825A	probably benign	Het
Cnksr3	T	C	10: 7,070,539 (GRCm39)	I232V	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cul1	A	G	6: 47,497,764 (GRCm39)	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,605,811 (GRCm39)	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,544,692 (GRCm39)		probably benign	Het
Ddx49	T	C	8: 70,753,633 (GRCm39)	T79A	probably damaging	Het
Defb46	T	A	8: 19,289,991 (GRCm39)		probably null	Het
Dnah17	T	A	11: 118,012,742 (GRCm39)	I145F	probably damaging	Het
Dock8	A	T	19: 25,104,492 (GRCm39)	I725F	probably benign	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Enam	T	A	5: 88,652,324 (GRCm39)	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,794,283 (GRCm39)	V829A	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gm10787	A	T	10: 76,857,711 (GRCm39)		noncoding transcript	Het
Gsap	T	A	5: 21,495,543 (GRCm39)		probably null	Het
Gtf2ird1	T	C	5: 134,411,434 (GRCm39)		probably null	Het
Has3	A	T	8: 107,600,711 (GRCm39)	I58F	probably damaging	Het
Haus5	A	T	7: 30,357,926 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,568 (GRCm39)	V169A	probably benign	Het
Hnf1a	T	A	5: 115,108,770 (GRCm39)	D45V	probably damaging	Het
Il20ra	T	A	10: 19,618,767 (GRCm39)	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,363,667 (GRCm39)	L763P	probably damaging	Het
Katnal2	C	A	18: 77,103,719 (GRCm39)	R104L	probably benign	Het
Kcng4	G	T	8: 120,352,947 (GRCm39)	P321Q	probably benign	Het
Larp4b	T	C	13: 9,187,339 (GRCm39)		probably null	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lhcgr	T	A	17: 89,072,604 (GRCm39)	I148F	probably damaging	Het
Lsm10	T	A	4: 125,991,756 (GRCm39)	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,360,619 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Mme	G	A	3: 63,235,467 (GRCm39)	D172N	probably benign	Het
Mme	A	G	3: 63,235,404 (GRCm39)	S97G	probably benign	Het
Mtrex	A	T	13: 113,009,461 (GRCm39)	H979Q	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,901,660 (GRCm39)	M208T	probably benign	Het
Neb	T	C	2: 52,118,554 (GRCm39)	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,414,009 (GRCm39)	M1T	probably null	Het
Nom1	T	C	5: 29,651,876 (GRCm39)	F738S	possibly damaging	Het
Or10v1	C	A	19: 11,874,249 (GRCm39)	P288H	probably damaging	Het
Or4f61	C	A	2: 111,922,192 (GRCm39)	V285L	probably benign	Het
Or51h5	C	T	7: 102,577,648 (GRCm39)	S271L	probably damaging	Het
Or5b123	C	T	19: 13,596,967 (GRCm39)	S147F	probably damaging	Het
Or5w14	T	C	2: 87,541,317 (GRCm39)		probably null	Het
Or6c203	T	C	10: 129,010,197 (GRCm39)	K231R	probably benign	Het
Or6f2	T	A	7: 139,756,474 (GRCm39)	L147*	probably null	Het
Or9m1b	T	G	2: 87,836,865 (GRCm39)	I86L	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Palb2	G	T	7: 121,713,537 (GRCm39)	D915E	possibly damaging	Het
Pank4	T	C	4: 155,060,816 (GRCm39)	L491P	probably damaging	Het
Paqr7	T	C	4: 134,234,980 (GRCm39)	V279A	probably benign	Het
Pcif1	G	A	2: 164,730,386 (GRCm39)	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,964,927 (GRCm39)	N185I	probably benign	Het
Plcd4	T	C	1: 74,588,520 (GRCm39)	V123A	possibly damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rac3	T	G	11: 120,614,320 (GRCm39)	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Rbl1	A	G	2: 157,016,823 (GRCm39)	I592T	probably benign	Het
Rbl2	A	C	8: 91,822,191 (GRCm39)	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Rorb	A	T	19: 18,939,447 (GRCm39)	L234H	probably damaging	Het
Rpp40	T	G	13: 36,080,897 (GRCm39)	D279A	probably benign	Het
Siglec1	C	A	2: 130,923,420 (GRCm39)	V442L	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Sp140l1	G	A	1: 85,062,852 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,062,047 (GRCm39)	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Tgm1	T	C	14: 55,942,398 (GRCm39)	Y651C	probably damaging	Het
Tmem200c	T	A	17: 69,147,612 (GRCm39)	V65E	probably damaging	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Trgc3	A	T	13: 19,445,261 (GRCm39)	M70L	probably damaging	Het
Vcan	T	G	13: 89,853,511 (GRCm39)	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,283,436 (GRCm39)	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,166,815 (GRCm39)	I772S	probably damaging	Het
Wdfy3	A	G	5: 102,063,242 (GRCm39)	V1342A	probably benign	Het
Zfp507	T	C	7: 35,487,176 (GRCm39)	H764R	probably damaging	Het
Znrf3	A	G	11: 5,237,455 (GRCm39)	I218T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTCCCCGGCACCATCAC -3'
(R):5'- TGGTATCAGGCAGTGAGGAG -3'

Sequencing Primer
(F):5'- TCACCACCCCAAAGCTGG -3'
(R):5'- GCCCAGTCTAAGGCCTCAGATAG -3'

Posted On

2014-06-23