Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Bet1l'

418988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bet1l

Ensembl Gene

ENSMUSG00000025484

Gene Name

Bet1 golgi vesicular membrane trafficking protein like

Synonyms

golgi SNARE, Gs15, 2610021K23Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

140433297-140437306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140434523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 42 (T42K)

Ref Sequence

ENSEMBL: ENSMUSP00000147777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000026558] [ENSMUST00000106049] [ENSMUST00000211590] [ENSMUST00000211527] [ENSMUST00000209690] [ENSMUST00000209320] [ENSMUST00000210708] [ENSMUST00000209766] [ENSMUST00000210710] [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: T61K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484
AA Change: T61K

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

unknown
Transcript: ENSMUST00000211590
AA Change: H54Q

Predicted Effect

probably benign
Transcript: ENSMUST00000211527
AA Change: T42K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000209690
AA Change: T61K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210195

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

probably benign
Transcript: ENSMUST00000209766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209318

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

probably benign
Transcript: ENSMUST00000211624
AA Change: T38K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Ccdc17	A	G	4: 116,454,033 (GRCm39)		probably null	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Edn1	C	A	13: 42,458,499 (GRCm39)	T104K	possibly damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Fpgt	C	T	3: 154,792,759 (GRCm39)	G423R	probably damaging	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or4d5	A	G	9: 40,012,030 (GRCm39)	V252A	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	Het
Ttc12	T	C	9: 49,369,362 (GRCm39)	K253E	possibly damaging	Het

Other mutations in Bet1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5837:Bet1l	UTSW	7	140,434,694 (GRCm39)	missense	probably benign	0.40
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

Posted On

2016-08-02