Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Bet1l'

449651

Institutional Source

Beutler Lab

Gene Symbol

Bet1l

Ensembl Gene

ENSMUSG00000025484

Gene Name

Bet1 golgi vesicular membrane trafficking protein like

Synonyms

golgi SNARE, Gs15, 2610021K23Rik

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140433297-140437306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140434694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 51 (R51L)

Ref Sequence

ENSEMBL: ENSMUSP00000148146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000026558] [ENSMUST00000106049] [ENSMUST00000209690] [ENSMUST00000211590] [ENSMUST00000210710] [ENSMUST00000209766] [ENSMUST00000210708] [ENSMUST00000211527] [ENSMUST00000209320] [ENSMUST00000211624]

AlphaFold

O35153

Predicted Effect

probably benign
Transcript: ENSMUST00000026555

SMART Domains

Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	25	59	3.8e-3	PFAM
Pfam:SHIPPO-rpt	65	95	7.8e-2	PFAM
Pfam:SHIPPO-rpt	100	131	1.2e-7	PFAM
Pfam:SHIPPO-rpt	136	170	3.9e-4	PFAM
Pfam:SHIPPO-rpt	179	209	3e-4	PFAM
Pfam:SHIPPO-rpt	215	245	9.6e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026557
AA Change: R51L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484
AA Change: R51L

Domain	Start	End	E-Value	Type
Pfam:SNARE	20	82	3.4e-13	PFAM
transmembrane domain	87	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026558

SMART Domains

Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485

Domain	Start	End	E-Value	Type
Pfam:Ric8	66	505	2.3e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106049

SMART Domains

Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	126	157	9.4e-6	PFAM
Pfam:SHIPPO-rpt	162	196	1e-3	PFAM
Pfam:SHIPPO-rpt	241	271	7.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139956

Predicted Effect

probably benign
Transcript: ENSMUST00000209690
AA Change: R51L

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

silent
Transcript: ENSMUST00000211590

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147815

Predicted Effect

probably benign
Transcript: ENSMUST00000209766

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209318

Predicted Effect

probably benign
Transcript: ENSMUST00000211527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153498

Predicted Effect

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

probably benign
Transcript: ENSMUST00000211624
AA Change: R28L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Best1	T	A	19: 9,966,483 (GRCm39)		probably null	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,258,280 (GRCm39)	H241L	probably damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Glra1	G	T	11: 55,427,333 (GRCm39)		probably null	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Ilk	T	C	7: 105,390,378 (GRCm39)		probably null	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Or9k2b	A	T	10: 130,016,266 (GRCm39)	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		probably benign	Het

Other mutations in Bet1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03106:Bet1l	APN	7	140,434,523 (GRCm39)	missense	probably benign	0.13
R6791:Bet1l	UTSW	7	140,434,418 (GRCm39)	missense	possibly damaging	0.58
R7539:Bet1l	UTSW	7	140,434,457 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGAGAAGCGCTTCACACTC -3'
(R):5'- GAAGTGCTTCAGGTAATAACTTGGC -3'

Sequencing Primer
(F):5'- AGTAGGCCAGTCACACTTGTG -3'
(R):5'- ATGTAGCTGGTCTGAAGG -3'

Posted On

2016-12-20