Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Begain'

702785

Institutional Source

Beutler Lab

Gene Symbol

Begain

Ensembl Gene

ENSMUSG00000040867

Gene Name

brain-enriched guanylate kinase-associated

Synonyms

LOC380785

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9269 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

109032187-109068217 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109033193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 551 (R551W)

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: 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

possibly damaging
Transcript: ENSMUST00000190647
AA Change: R551W

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: R551W

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: R756W

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000221510

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016 (GRCm38)	Q1683P	probably damaging	Het
A2m	T	C	6: 121,660,906 (GRCm38)	S845P	probably benign	Het
Actn1	T	A	12: 80,172,971 (GRCm38)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196 (GRCm38)	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278 (GRCm38)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062 (GRCm38)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499 (GRCm38)	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329 (GRCm38)	A354V	probably benign	Het
Atg2b	A	G	12: 105,652,100 (GRCm38)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,557,204 (GRCm38)	T751S	probably benign	Het
Borcs8	C	A	8: 70,141,871 (GRCm38)	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786 (GRCm38)	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761 (GRCm38)	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725 (GRCm38)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426 (GRCm38)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm38)		probably benign	Het
Cop1	C	T	1: 159,288,983 (GRCm38)	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516 (GRCm38)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431 (GRCm38)	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075 (GRCm38)	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813 (GRCm38)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987 (GRCm38)	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323 (GRCm38)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941 (GRCm38)	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838 (GRCm38)	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748 (GRCm38)	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463 (GRCm38)	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008 (GRCm38)	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356 (GRCm38)	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654 (GRCm38)	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676 (GRCm38)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541 (GRCm38)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945 (GRCm38)		probably null	Het
Klf10	A	G	15: 38,297,758 (GRCm38)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005 (GRCm38)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896 (GRCm38)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625 (GRCm38)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264 (GRCm38)	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903 (GRCm38)	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242 (GRCm38)	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932 (GRCm38)	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952 (GRCm38)	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630 (GRCm38)	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640 (GRCm38)	N226I	unknown	Het
Olfr472	T	A	7: 107,903,320 (GRCm38)	I201N	possibly damaging	Het
Olfr715	T	C	7: 107,128,626 (GRCm38)	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461 (GRCm38)	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022 (GRCm38)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251 (GRCm38)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406 (GRCm38)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721 (GRCm38)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486 (GRCm38)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Plxna1	T	C	6: 89,329,559 (GRCm38)	R1430G	probably null	Het
Plxna4	T	C	6: 32,178,380 (GRCm38)	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731 (GRCm38)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988 (GRCm38)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507 (GRCm38)	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972 (GRCm38)	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026 (GRCm38)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246 (GRCm38)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398 (GRCm38)	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099 (GRCm38)	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863 (GRCm38)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286 (GRCm38)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 110,812,026 (GRCm38)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,872,309 (GRCm38)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182 (GRCm38)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155 (GRCm38)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241 (GRCm38)	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074 (GRCm38)	S13*	probably null	Het
Srek1	T	C	13: 103,753,146 (GRCm38)		probably null	Het
Sugp1	G	T	8: 70,056,570 (GRCm38)	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324 (GRCm38)	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088 (GRCm38)	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309 (GRCm38)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342 (GRCm38)	C325S	probably benign	Het
Themis	T	C	10: 28,863,394 (GRCm38)	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431 (GRCm38)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945 (GRCm38)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm38)	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432 (GRCm38)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838 (GRCm38)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232 (GRCm38)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203 (GRCm38)	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790 (GRCm38)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663 (GRCm38)	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367 (GRCm38)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302 (GRCm38)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320 (GRCm38)	E233G	probably damaging	Het

Other mutations in Begain

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Begain	APN	12	109,033,645 (GRCm38)	missense	probably benign	0.00
IGL02027:Begain	APN	12	109,034,309 (GRCm38)	missense	possibly damaging	0.80
IGL02186:Begain	APN	12	109,033,352 (GRCm38)	missense	probably damaging	1.00
IGL02219:Begain	APN	12	109,033,730 (GRCm38)	missense	probably benign	0.01
IGL02555:Begain	APN	12	109,034,189 (GRCm38)	missense	probably damaging	1.00
FR4342:Begain	UTSW	12	109,033,418 (GRCm38)	unclassified	probably benign
R0335:Begain	UTSW	12	109,038,934 (GRCm38)	missense	probably damaging	1.00
R1815:Begain	UTSW	12	109,034,107 (GRCm38)	missense	probably damaging	1.00
R1824:Begain	UTSW	12	109,033,099 (GRCm38)	splice site	probably null
R1837:Begain	UTSW	12	109,035,323 (GRCm38)	splice site	probably benign
R1839:Begain	UTSW	12	109,035,323 (GRCm38)	splice site	probably benign
R2110:Begain	UTSW	12	109,033,917 (GRCm38)	nonsense	probably null
R2849:Begain	UTSW	12	109,033,118 (GRCm38)	missense	probably benign	0.17
R4480:Begain	UTSW	12	109,034,123 (GRCm38)	missense	probably damaging	1.00
R4692:Begain	UTSW	12	109,033,892 (GRCm38)	missense	probably damaging	1.00
R6425:Begain	UTSW	12	109,033,394 (GRCm38)	missense	probably damaging	1.00
R7205:Begain	UTSW	12	109,038,868 (GRCm38)	missense	possibly damaging	0.64
R7354:Begain	UTSW	12	109,033,289 (GRCm38)	missense	possibly damaging	0.91
R7369:Begain	UTSW	12	109,033,927 (GRCm38)	missense	possibly damaging	0.51
R7683:Begain	UTSW	12	109,033,487 (GRCm38)	missense	unknown
R7755:Begain	UTSW	12	109,052,876 (GRCm38)	missense	probably benign	0.01
R7807:Begain	UTSW	12	109,038,930 (GRCm38)	missense	probably damaging	1.00
R9207:Begain	UTSW	12	109,033,324 (GRCm38)	missense	probably damaging	1.00
R9368:Begain	UTSW	12	109,033,992 (GRCm38)	missense	probably damaging	1.00
RF008:Begain	UTSW	12	109,033,437 (GRCm38)	nonsense	probably null
RF012:Begain	UTSW	12	109,033,427 (GRCm38)	unclassified	probably benign
RF014:Begain	UTSW	12	109,033,422 (GRCm38)	unclassified	probably benign
RF020:Begain	UTSW	12	109,033,424 (GRCm38)	unclassified	probably benign
RF024:Begain	UTSW	12	109,033,437 (GRCm38)	nonsense	probably null
RF025:Begain	UTSW	12	109,033,424 (GRCm38)	unclassified	probably benign
RF049:Begain	UTSW	12	109,033,414 (GRCm38)	unclassified	probably benign
RF056:Begain	UTSW	12	109,033,436 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACTGCAGTCTGCTGATAGC -3'
(R):5'- CCTCTATGCCACCTACAAGG -3'

Sequencing Primer
(F):5'- GCTGATAGCAGTCAGTTGAGC -3'
(R):5'- ACAAGGCCGATAGTTTCTCG -3'

Posted On

2022-03-25