Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03323:Bcl2l15'

416558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcl2l15

Ensembl Gene

ENSMUSG00000044165

Gene Name

BCLl2-like 15

Synonyms

LOC229672, Bfk

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03323

Quality Score

Status

Chromosome

Chromosomal Location

103739917-103761934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103740719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 62 (I62L)

Ref Sequence

ENSEMBL: ENSMUSP00000102435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062945] [ENSMUST00000106822] [ENSMUST00000199710]

AlphaFold

Q08ED0

Predicted Effect

probably benign
Transcript: ENSMUST00000062945
AA Change: I62L

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

SMART Domains

Protein: ENSMUSP00000052210
Gene: ENSMUSG00000044165
AA Change: I62L

Domain	Start	End	E-Value	Type
Blast:BCL	60	162	2e-54	BLAST
SCOP:d1k3ka_	61	165	5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106822
AA Change: I62L

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

SMART Domains

Protein: ENSMUSP00000102435
Gene: ENSMUSG00000044165
AA Change: I62L

Domain	Start	End	E-Value	Type
Blast:BCL	60	162	2e-54	BLAST
SCOP:d1maz__	60	162	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199710

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	T	14: 103,292,730 (GRCm39)	D418V	probably damaging	Het
Ahdc1	G	A	4: 132,792,739 (GRCm39)	G1327S	probably benign	Het
Ccdc7a	A	T	8: 129,785,244 (GRCm39)	D105E	probably benign	Het
Cldn12	C	A	5: 5,558,421 (GRCm39)	G2V	probably damaging	Het
Eapp	G	T	12: 54,720,400 (GRCm39)	H272N	probably damaging	Het
Fcrla	A	G	1: 170,755,114 (GRCm39)		probably benign	Het
Fmnl3	C	T	15: 99,219,162 (GRCm39)	G787S	probably damaging	Het
Fmo5	G	T	3: 97,546,323 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,733,815 (GRCm39)	E1021*	probably null	Het
Hspa4	A	T	11: 53,155,960 (GRCm39)	N648K	probably benign	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Lad1	T	A	1: 135,758,712 (GRCm39)		probably null	Het
Man2b2	T	C	5: 36,975,858 (GRCm39)	D399G	probably benign	Het
Mc5r	C	T	18: 68,472,286 (GRCm39)	T215I	probably benign	Het
Mx2	A	G	16: 97,347,575 (GRCm39)	S156G	probably damaging	Het
Necap2	A	T	4: 140,795,533 (GRCm39)	I242N	possibly damaging	Het
Nme8	C	T	13: 19,873,120 (GRCm39)	E175K	probably benign	Het
Notch4	T	A	17: 34,801,445 (GRCm39)	C1098S	probably damaging	Het
Or1j16	T	A	2: 36,530,153 (GRCm39)	M34K	possibly damaging	Het
Or7a42	T	C	10: 78,791,434 (GRCm39)	Y132H	probably benign	Het
Osbpl9	A	G	4: 108,919,656 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,607,162 (GRCm39)	S968P	probably damaging	Het
Qsox2	A	G	2: 26,110,991 (GRCm39)	S125P	probably benign	Het
Rptn	A	G	3: 93,304,460 (GRCm39)	T598A	probably benign	Het
Slc2a2	G	A	3: 28,780,439 (GRCm39)	M375I	probably damaging	Het
Tmed9	C	T	13: 55,744,691 (GRCm39)	T173I	probably damaging	Het
Trank1	A	G	9: 111,181,184 (GRCm39)	D402G	probably damaging	Het
Ttc21a	G	T	9: 119,769,602 (GRCm39)		probably benign	Het
Vmn2r58	T	C	7: 41,511,295 (GRCm39)	M503V	probably benign	Het

Other mutations in Bcl2l15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Bcl2l15	APN	3	103,740,730 (GRCm39)	missense	probably damaging	1.00
R0655:Bcl2l15	UTSW	3	103,740,285 (GRCm39)	critical splice donor site	probably null
R0788:Bcl2l15	UTSW	3	103,740,794 (GRCm39)	critical splice donor site	probably null
R1721:Bcl2l15	UTSW	3	103,745,914 (GRCm39)	splice site	probably null
R1744:Bcl2l15	UTSW	3	103,745,856 (GRCm39)	missense	probably damaging	1.00
R1867:Bcl2l15	UTSW	3	103,745,914 (GRCm39)	splice site	probably null
R5632:Bcl2l15	UTSW	3	103,743,378 (GRCm39)	missense	probably benign	0.01
R5850:Bcl2l15	UTSW	3	103,743,432 (GRCm39)	missense	possibly damaging	0.79
R7485:Bcl2l15	UTSW	3	103,740,729 (GRCm39)	missense	probably damaging	1.00
R7546:Bcl2l15	UTSW	3	103,740,203 (GRCm39)	missense	probably benign	0.07
R7982:Bcl2l15	UTSW	3	103,740,158 (GRCm39)	missense	probably damaging	1.00
R9455:Bcl2l15	UTSW	3	103,743,369 (GRCm39)	missense	unknown

Posted On

2016-08-02