Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Begain'

202658

Institutional Source

Beutler Lab

Gene Symbol

Begain

Ensembl Gene

ENSMUSG00000040867

Gene Name

brain-enriched guanylate kinase-associated

Synonyms

LOC380785

MMRRC Submission

039843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1815 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

108998113-109034143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109000033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 451 (Y451C)

Ref Sequence

ENSEMBL: ENSMUSP00000148247 (fasta)

Gene Model

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

AlphaFold

Q68EF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000073156
AA Change: Y246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: Y246C

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 damaging
Transcript: ENSMUST00000190647
AA Change: Y246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: Y246C

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 damaging
Transcript: ENSMUST00000209829
AA Change: Y451C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly damaging	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
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
R2849:Begain	UTSW	12	108,999,044 (GRCm39)	missense	probably benign	0.17
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'- TTGCGGTTGAAGAACTCGTCG -3'
(R):5'- CACATGGAGAAGCATGGCTG -3'

Sequencing Primer
(F):5'- AAGAACTCGTCGCGGCTG -3'
(R):5'- GTCCGCACTGTGCCATC -3'

Posted On

2014-06-23