Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02027:Begain'

184231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Begain

Ensembl Gene

ENSMUSG00000040867

Gene Name

brain-enriched guanylate kinase-associated

Synonyms

LOC380785

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02027

Quality Score

Status

Chromosome

Chromosomal Location

109032187-109068217 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109034309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 384 (K384Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000190647] [ENSMUST00000209829]

AlphaFold

Q68EF6

Predicted Effect

probably benign
Transcript: ENSMUST00000073156
AA Change: K179Q

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: K179Q

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	18	132	2e-4	SMART
low complexity region	285	306	N/A	INTRINSIC
low complexity region	309	326	N/A	INTRINSIC
low complexity region	445	460	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189236

Predicted Effect

probably benign
Transcript: ENSMUST00000190647
AA Change: K179Q

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: K179Q

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	18	132	2e-4	SMART
low complexity region	285	306	N/A	INTRINSIC
low complexity region	309	326	N/A	INTRINSIC
low complexity region	445	460	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209829
AA Change: K384Q

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	A	G	1: 134,431,185	T312A	probably benign	Het
C2cd6	T	C	1: 59,060,604	I393V	probably benign	Het
Catsperz	A	G	19: 6,925,296	V5A	probably benign	Het
Cbx1	T	A	11: 96,801,489	F67L	probably damaging	Het
Cerkl	T	C	2: 79,341,286		probably benign	Het
Ctgf	A	G	10: 24,596,409	S117G	probably damaging	Het
Cubn	G	T	2: 13,287,594	D3259E	probably damaging	Het
Cyp2u1	A	G	3: 131,297,951	Y307H	probably damaging	Het
Dcaf6	A	C	1: 165,424,341	D71E	probably damaging	Het
Dclk3	A	T	9: 111,467,843	K152*	probably null	Het
Fcgbp	G	A	7: 28,075,204	D68N	probably damaging	Het
Gm6576	A	G	15: 27,025,866		noncoding transcript	Het
Has2	T	C	15: 56,668,171	T383A	probably damaging	Het
Htr1f	T	A	16: 64,926,321	K203*	probably null	Het
Il1f9	A	T	2: 24,192,785	I191L	probably benign	Het
Iqgap3	T	C	3: 88,087,342	I116T	possibly damaging	Het
Itga1	C	T	13: 114,990,055		probably null	Het
Kif5b	T	C	18: 6,209,089	D891G	possibly damaging	Het
Krt74	T	C	15: 101,756,794		noncoding transcript	Het
Lama3	A	G	18: 12,516,513	K1776E	probably damaging	Het
Lats1	T	C	10: 7,712,948	S1110P	probably benign	Het
Lipo3	T	A	19: 33,580,519	K158*	probably null	Het
Lrrc9	T	A	12: 72,470,334		probably benign	Het
Met	A	G	6: 17,563,727		probably benign	Het
Mmp13	A	G	9: 7,272,955	Y105C	probably damaging	Het
Mtus1	T	C	8: 40,993,601	E1151G	probably damaging	Het
Nov	T	C	15: 54,747,934	V155A	probably damaging	Het
Nptx1	T	C	11: 119,544,596	D298G	possibly damaging	Het
Pdlim1	T	C	19: 40,243,466	N156S	probably benign	Het
Pdzk1	A	G	3: 96,854,673		probably benign	Het
Pex5	A	G	6: 124,398,888	S448P	probably benign	Het
Polr3e	G	T	7: 120,930,963	R124L	probably damaging	Het
Ppp2r2c	C	T	5: 36,952,472	R392C	probably damaging	Het
Prpf4b	T	C	13: 34,889,571	I543T	probably benign	Het
Prr27	A	G	5: 87,843,443	S305G	possibly damaging	Het
Repin1	A	G	6: 48,596,473	H56R	probably damaging	Het
Ryr2	A	T	13: 11,597,112	L408H	probably damaging	Het
Sbf2	T	A	7: 110,461,141	Q205H	probably damaging	Het
Sgo2b	G	A	8: 63,926,829	P990S	probably benign	Het
Slc33a1	G	T	3: 63,948,141	P361Q	probably damaging	Het
Tmem98	T	C	11: 80,815,657		probably benign	Het
Ttc25	C	T	11: 100,569,902	T495M	probably damaging	Het
Vmn1r16	T	C	6: 57,323,059	T193A	possibly damaging	Het
Vmn1r5	T	A	6: 56,985,655	I105K	probably damaging	Het
Zfp473	A	T	7: 44,738,038		probably benign	Het

Other mutations in Begain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Begain	APN	12	109033645	missense	probably benign	0.00
IGL02186:Begain	APN	12	109033352	missense	probably damaging	1.00
IGL02219:Begain	APN	12	109033730	missense	probably benign	0.01
IGL02555:Begain	APN	12	109034189	missense	probably damaging	1.00
FR4342:Begain	UTSW	12	109033418	unclassified	probably benign
R0335:Begain	UTSW	12	109038934	missense	probably damaging	1.00
R1815:Begain	UTSW	12	109034107	missense	probably damaging	1.00
R1824:Begain	UTSW	12	109033099	splice site	probably null
R1837:Begain	UTSW	12	109035323	splice site	probably benign
R1839:Begain	UTSW	12	109035323	splice site	probably benign
R2110:Begain	UTSW	12	109033917	nonsense	probably null
R2849:Begain	UTSW	12	109033118	missense	probably benign	0.17
R4480:Begain	UTSW	12	109034123	missense	probably damaging	1.00
R4692:Begain	UTSW	12	109033892	missense	probably damaging	1.00
R6425:Begain	UTSW	12	109033394	missense	probably damaging	1.00
R7205:Begain	UTSW	12	109038868	missense	possibly damaging	0.64
R7354:Begain	UTSW	12	109033289	missense	possibly damaging	0.91
R7369:Begain	UTSW	12	109033927	missense	possibly damaging	0.51
R7683:Begain	UTSW	12	109033487	missense	unknown
R7755:Begain	UTSW	12	109052876	missense	probably benign	0.01
R7807:Begain	UTSW	12	109038930	missense	probably damaging	1.00
R9207:Begain	UTSW	12	109033324	missense	probably damaging	1.00
R9269:Begain	UTSW	12	109033193	missense	possibly damaging	0.51
R9368:Begain	UTSW	12	109033992	missense	probably damaging	1.00
RF008:Begain	UTSW	12	109033437	nonsense	probably null
RF012:Begain	UTSW	12	109033427	unclassified	probably benign
RF014:Begain	UTSW	12	109033422	unclassified	probably benign
RF020:Begain	UTSW	12	109033424	unclassified	probably benign
RF024:Begain	UTSW	12	109033437	nonsense	probably null
RF025:Begain	UTSW	12	109033424	unclassified	probably benign
RF049:Begain	UTSW	12	109033414	unclassified	probably benign
RF056:Begain	UTSW	12	109033436	unclassified	probably benign

Posted On

2014-05-07