Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Sptbn5'

439689

Institutional Source

Beutler Lab

Gene Symbol

Sptbn5

Ensembl Gene

ENSMUSG00000074899

Gene Name

spectrin beta, non-erythrocytic 5

Synonyms

Spnb5, EG640524

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

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

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119871974-119916159 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

A to G at 119880613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pfkp	A	T	13: 6,648,765 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	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
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
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
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'- TAGGTGTTCCTCAAAGCAGAG -3'
(R):5'- TTCAGAGGTAGAGTGCCCAG -3'

Sequencing Primer
(F):5'- AGAGGCTGTGCTGGTCCAC -3'
(R):5'- TAGAGTGCCCAGGTGCCTG -3'

Posted On

2016-11-08