Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02056:BB014433'

185231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BB014433

Ensembl Gene

ENSMUSG00000049008

Gene Name

expressed sequence BB014433

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02056

Quality Score

Status

Chromosome

Chromosomal Location

15041444-15046078 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 15042435 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 139 (C139*)

Ref Sequence

ENSEMBL: ENSMUSP00000137001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050493] [ENSMUST00000123331] [ENSMUST00000179941]

Predicted Effect

probably null
Transcript: ENSMUST00000050493
AA Change: C139*

Predicted Effect

probably benign
Transcript: ENSMUST00000123331

SMART Domains

Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008

Domain	Start	End	E-Value	Type
internal_repeat_1	27	51	1.93e-5	PROSPERO
internal_repeat_2	31	59	5.9e-5	PROSPERO
internal_repeat_2	85	113	5.9e-5	PROSPERO
internal_repeat_1	95	117	1.93e-5	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000179941
AA Change: C139*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209938

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	A	3: 92,868,893	Q161L	probably benign	Het
Atg101	T	C	15: 101,290,337	S108P	probably damaging	Het
Cacna1s	A	G	1: 136,119,000	N1808S	probably benign	Het
Ccdc148	A	G	2: 59,004,069		probably benign	Het
Dnah7a	T	G	1: 53,504,342	N2223T	probably benign	Het
Fgl2	T	A	5: 21,375,545	I295K	probably damaging	Het
Foxj3	T	C	4: 119,585,757	I126T	probably damaging	Het
Gm4540	T	A	3: 106,034,740		probably benign	Het
Hps5	T	G	7: 46,788,182	K156N	probably damaging	Het
Hsp90aa1	T	C	12: 110,694,015		probably benign	Het
Il12rb1	C	T	8: 70,811,187	R131*	probably null	Het
Itgb2l	T	C	16: 96,427,689	E438G	probably damaging	Het
Nbeal2	A	T	9: 110,627,324	L2379Q	probably benign	Het
Neurl4	T	C	11: 69,905,790	V481A	probably damaging	Het
Nos1ap	A	G	1: 170,318,623	F454S	possibly damaging	Het
Pik3r5	G	T	11: 68,490,855	G242C	possibly damaging	Het
Pkd1l3	A	G	8: 109,631,378	N834S	probably benign	Het
Prkar2b	A	G	12: 31,975,910		probably benign	Het
Pusl1	T	C	4: 155,890,572	T191A	probably benign	Het
Rasal2	A	G	1: 157,299,261	V51A	probably damaging	Het
Rsc1a1	T	A	4: 141,685,485	I39F	probably benign	Het
Slc2a3	G	A	6: 122,735,478	P269L	probably damaging	Het
Sntb1	C	T	15: 55,648,039	G383D	possibly damaging	Het
Washc5	T	C	15: 59,350,336	T547A	possibly damaging	Het
Zfr	T	C	15: 12,154,447	V572A	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	Het

Other mutations in BB014433

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:BB014433	APN	8	15042510	missense	probably benign	0.03
IGL01595:BB014433	APN	8	15042499	splice site	probably null
IGL02470:BB014433	APN	8	15042803	missense	unknown
R0359:BB014433	UTSW	8	15042540	nonsense	probably null
R1066:BB014433	UTSW	8	15042185	missense	probably damaging	1.00
R1837:BB014433	UTSW	8	15042629	missense	unknown
R1838:BB014433	UTSW	8	15042629	missense	unknown
R2227:BB014433	UTSW	8	15041717	missense	probably benign	0.34
R4508:BB014433	UTSW	8	15042095	missense	possibly damaging	0.83
R4882:BB014433	UTSW	8	15042016	missense	probably benign	0.05
R4996:BB014433	UTSW	8	15042166	missense	probably benign	0.10
R5988:BB014433	UTSW	8	15041854	missense	probably damaging	1.00
R6051:BB014433	UTSW	8	15042179	missense	possibly damaging	0.83
R6483:BB014433	UTSW	8	15042208	missense	probably benign	0.10
R6505:BB014433	UTSW	8	15042304	missense	probably benign	0.10
R7237:BB014433	UTSW	8	15041765	missense	probably benign	0.13
R7771:BB014433	UTSW	8	15042395	missense	probably damaging	1.00
R7847:BB014433	UTSW	8	15042160	small deletion	probably benign
R7859:BB014433	UTSW	8	15042160	small deletion	probably benign
R8377:BB014433	UTSW	8	15042160	small deletion	probably benign
R8560:BB014433	UTSW	8	15042160	small deletion	probably benign
X0066:BB014433	UTSW	8	15042833	missense	unknown

Posted On

2014-05-07