Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Begain'

252013

Institutional Source

Beutler Lab

Gene Symbol

Begain

Ensembl Gene

ENSMUSG00000040867

Gene Name

brain-enriched guanylate kinase-associated

Synonyms

LOC380785

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2849 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

108998113-109034143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108999044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 576 (M576L)

Ref Sequence

ENSEMBL: ENSMUSP00000140393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047115] [ENSMUST00000167816] [ENSMUST00000190647] [ENSMUST00000209829] [ENSMUST00000221510]

AlphaFold

Q68EF6

Predicted Effect

probably benign
Transcript: ENSMUST00000047115

SMART Domains

Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877

Domain	Start	End	E-Value	Type
low complexity region	120	132	N/A	INTRINSIC
low complexity region	180	206	N/A	INTRINSIC
WD40	226	268	1.83e-7	SMART
WD40	272	311	6.73e-6	SMART
WD40	312	353	2.58e-1	SMART
Blast:WD40	356	402	7e-11	BLAST
Blast:WD40	407	445	6e-8	BLAST
WD40	451	492	9.6e-2	SMART
WD40	495	535	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073156
AA Change: M576L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: M576L

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

probably benign
Transcript: ENSMUST00000167816

SMART Domains

Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877

Domain	Start	End	E-Value	Type
low complexity region	120	132	N/A	INTRINSIC
low complexity region	180	206	N/A	INTRINSIC
WD40	226	268	1.83e-7	SMART
WD40	272	311	6.73e-6	SMART
WD40	312	353	2.58e-1	SMART
Blast:WD40	356	402	7e-11	BLAST
Blast:WD40	407	445	6e-8	BLAST
WD40	451	492	9.6e-2	SMART
WD40	495	535	3e-3	SMART

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: M576L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: M576L

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

probably benign
Transcript: ENSMUST00000209829
AA Change: M781L

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000221510

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adcy7	A	G	8: 89,054,021 (GRCm39)	I1017V	probably benign	Het
Agpat2	A	G	2: 26,487,251 (GRCm39)	I109T	probably damaging	Het
Aldh9a1	G	A	1: 167,180,197 (GRCm39)	R97H	probably damaging	Het
Als2	G	A	1: 59,245,697 (GRCm39)	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,577,742 (GRCm39)	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bod1l	T	C	5: 41,995,419 (GRCm39)	N109S	probably damaging	Het
Boll	A	G	1: 55,385,532 (GRCm39)	M131T	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cers2	T	C	3: 95,229,770 (GRCm39)	F330L	probably benign	Het
Chst13	T	C	6: 90,286,140 (GRCm39)	D274G	probably benign	Het
Cimap1a	A	G	7: 140,429,182 (GRCm39)	T156A	probably benign	Het
Cstdc5	T	A	16: 36,187,814 (GRCm39)	Q17L	probably damaging	Het
Dclk2	A	G	3: 86,700,530 (GRCm39)	V649A	probably damaging	Het
Deaf1	T	C	7: 140,894,367 (GRCm39)	*54W	probably null	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fbxo32	C	T	15: 58,071,368 (GRCm39)	S71N	probably benign	Het
Fbxo42	T	A	4: 140,927,821 (GRCm39)	N700K	probably damaging	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,663,891 (GRCm39)	L121*	probably null	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,387,861 (GRCm39)	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Josd2	A	G	7: 44,118,397 (GRCm39)		probably null	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Lrp1	C	T	10: 127,378,165 (GRCm39)	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 63,924,810 (GRCm39)	N119S	probably damaging	Het
Lypd6	C	T	2: 50,055,664 (GRCm39)	P38L	probably damaging	Het
Msl3l2	T	C	10: 55,991,538 (GRCm39)	C88R	probably benign	Het
Nsd1	A	G	13: 55,361,505 (GRCm39)	T158A	probably damaging	Het
Nudt22	A	T	19: 6,970,852 (GRCm39)	S239R	probably benign	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Or52r1c	A	T	7: 102,735,319 (GRCm39)	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pcnx2	A	G	8: 126,487,666 (GRCm39)	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,162,467 (GRCm39)	K1349E	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,240,552 (GRCm39)	H392N	probably benign	Het
Slco6d1	C	T	1: 98,394,441 (GRCm39)	T375I	probably benign	Het
Smpd4	A	G	16: 17,460,076 (GRCm39)	D436G	probably damaging	Het
Spata22	G	A	11: 73,244,571 (GRCm39)	W311*	probably null	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tle6	T	A	10: 81,430,235 (GRCm39)	I306F	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trim24	T	A	6: 37,933,388 (GRCm39)	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,049,045 (GRCm39)	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,039,333 (GRCm39)	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,401,819 (GRCm39)	V92I	probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zw10	A	G	9: 48,968,941 (GRCm39)		probably null	Het

Other mutations in Begain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Begain	APN	12	108,999,571 (GRCm39)	missense	probably benign	0.00
IGL02027:Begain	APN	12	109,000,235 (GRCm39)	missense	possibly damaging	0.80
IGL02186:Begain	APN	12	108,999,278 (GRCm39)	missense	probably damaging	1.00
IGL02219:Begain	APN	12	108,999,656 (GRCm39)	missense	probably benign	0.01
IGL02555:Begain	APN	12	109,000,115 (GRCm39)	missense	probably damaging	1.00
FR4342:Begain	UTSW	12	108,999,344 (GRCm39)	unclassified	probably benign
R0335:Begain	UTSW	12	109,004,860 (GRCm39)	missense	probably damaging	1.00
R1815:Begain	UTSW	12	109,000,033 (GRCm39)	missense	probably damaging	1.00
R1824:Begain	UTSW	12	108,999,025 (GRCm39)	splice site	probably null
R1837:Begain	UTSW	12	109,001,249 (GRCm39)	splice site	probably benign
R1839:Begain	UTSW	12	109,001,249 (GRCm39)	splice site	probably benign
R2110:Begain	UTSW	12	108,999,843 (GRCm39)	nonsense	probably null
R4480:Begain	UTSW	12	109,000,049 (GRCm39)	missense	probably damaging	1.00
R4692:Begain	UTSW	12	108,999,818 (GRCm39)	missense	probably damaging	1.00
R6425:Begain	UTSW	12	108,999,320 (GRCm39)	missense	probably damaging	1.00
R7205:Begain	UTSW	12	109,004,794 (GRCm39)	missense	possibly damaging	0.64
R7354:Begain	UTSW	12	108,999,215 (GRCm39)	missense	possibly damaging	0.91
R7369:Begain	UTSW	12	108,999,853 (GRCm39)	missense	possibly damaging	0.51
R7683:Begain	UTSW	12	108,999,413 (GRCm39)	missense	unknown
R7755:Begain	UTSW	12	109,018,802 (GRCm39)	missense	probably benign	0.01
R7807:Begain	UTSW	12	109,004,856 (GRCm39)	missense	probably damaging	1.00
R9207:Begain	UTSW	12	108,999,250 (GRCm39)	missense	probably damaging	1.00
R9269:Begain	UTSW	12	108,999,119 (GRCm39)	missense	possibly damaging	0.51
R9368:Begain	UTSW	12	108,999,918 (GRCm39)	missense	probably damaging	1.00
RF008:Begain	UTSW	12	108,999,363 (GRCm39)	nonsense	probably null
RF012:Begain	UTSW	12	108,999,353 (GRCm39)	unclassified	probably benign
RF014:Begain	UTSW	12	108,999,348 (GRCm39)	unclassified	probably benign
RF020:Begain	UTSW	12	108,999,350 (GRCm39)	unclassified	probably benign
RF024:Begain	UTSW	12	108,999,363 (GRCm39)	nonsense	probably null
RF025:Begain	UTSW	12	108,999,350 (GRCm39)	unclassified	probably benign
RF049:Begain	UTSW	12	108,999,340 (GRCm39)	unclassified	probably benign
RF056:Begain	UTSW	12	108,999,362 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGAAACTGGAACTGGACTTCC -3'
(R):5'- TAGTTTCTCGGAGGGCGATGAC -3'

Sequencing Primer
(F):5'- AACTGGAACTGGACTTCCTTGGC -3'
(R):5'- CTGTCTCAGGGTCATCTGGC -3'

Posted On

2014-12-04