Mutagenetix > Incidental Mutation

Incidental Mutation 'R9368:Begain'

709154

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 #

R9368 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108998113-109034143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108999918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 284 (S284R)

Ref Sequence

ENSEMBL: ENSMUSP00000140393 (fasta)

Gene Model

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

AlphaFold

Q68EF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000190647
AA Change: S284R

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

SMART Domains

Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: S284R

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: S489R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abcc9	A	T	6: 142,640,251 (GRCm39)	L79H	probably damaging	Het
Alb	A	G	5: 90,623,143 (GRCm39)	T601A	probably benign	Het
Aldh1l2	A	T	10: 83,331,816 (GRCm39)	L776*	probably null	Het
Ank3	A	G	10: 69,823,329 (GRCm39)	K666R		Het
Ankrd17	T	C	5: 90,391,986 (GRCm39)	T1895A	possibly damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Ap2a2	T	C	7: 141,207,815 (GRCm39)	F738L	probably benign	Het
Ap4m1	T	A	5: 138,175,445 (GRCm39)	C319*	probably null	Het
Arsj	C	T	3: 126,232,745 (GRCm39)	T497M	probably damaging	Het
Bicc1	A	T	10: 70,785,917 (GRCm39)	N408K	probably benign	Het
Cacybp	T	C	1: 160,031,208 (GRCm39)	M207V	possibly damaging	Het
Cct8l1	A	G	5: 25,721,336 (GRCm39)	D17G	probably benign	Het
Cd1d1	C	A	3: 86,905,939 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,251,200 (GRCm39)	C554Y	probably damaging	Het
Chsy1	A	G	7: 65,821,499 (GRCm39)	D578G	probably damaging	Het
Col6a6	T	C	9: 105,663,300 (GRCm39)	Q79R	possibly damaging	Het
Cpne4	A	T	9: 104,563,738 (GRCm39)	R38S	probably damaging	Het
Cyp3a57	A	G	5: 145,318,159 (GRCm39)	D380G	probably benign	Het
Dnah6	A	T	6: 72,998,261 (GRCm39)	S4054T	probably benign	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,762,837 (GRCm39)	R1648G	probably benign	Het
Fam117b	A	T	1: 60,020,740 (GRCm39)	M537L	probably benign	Het
Fcrl2	C	T	3: 87,164,906 (GRCm39)	V207I	possibly damaging	Het
Ffar1	A	G	7: 30,560,457 (GRCm39)	S147P	probably benign	Het
Fgfr3	G	A	5: 33,885,216 (GRCm39)	R110Q	probably benign	Het
Frmd6	T	A	12: 70,933,865 (GRCm39)		probably null	Het
Fry	A	G	5: 150,401,403 (GRCm39)	R356G		Het
Fsip2	A	G	2: 82,811,039 (GRCm39)	R2453G	possibly damaging	Het
Glipr1l3	G	A	10: 111,983,923 (GRCm39)	T181I	probably benign	Het
Hoxc10	A	G	15: 102,879,382 (GRCm39)	I301V	possibly damaging	Het
Igf2bp2	T	A	16: 21,883,895 (GRCm39)	D463V	probably damaging	Het
Ints13	T	C	6: 146,467,129 (GRCm39)	D194G	probably null	Het
Kif5c	A	T	2: 49,622,792 (GRCm39)	E548V	probably damaging	Het
Lrp2	T	C	2: 69,357,979 (GRCm39)	D350G	probably damaging	Het
Lrrc61	T	C	6: 48,545,245 (GRCm39)	S23P	possibly damaging	Het
Mcpt4	T	C	14: 56,299,134 (GRCm39)	M35V	probably damaging	Het
Mical1	T	A	10: 41,357,302 (GRCm39)	M369K	possibly damaging	Het
Mre11a	T	A	9: 14,736,514 (GRCm39)	F548L	probably benign	Het
Muc20	C	T	16: 32,614,471 (GRCm39)	C302Y	possibly damaging	Het
Nlgn1	T	C	3: 25,488,622 (GRCm39)	D571G	probably damaging	Het
Nup88	T	C	11: 70,858,756 (GRCm39)	K131E	probably damaging	Het
Nwd2	A	G	5: 63,962,306 (GRCm39)	D630G	probably damaging	Het
Or3a1	A	G	11: 74,225,193 (GRCm39)	L288P	probably damaging	Het
Or5h19	C	T	16: 58,856,678 (GRCm39)	V141M	probably benign	Het
Or6c212	A	T	10: 129,558,881 (GRCm39)	C177*	probably null	Het
Pdzd8	A	T	19: 59,289,219 (GRCm39)	L727*	probably null	Het
Pi16	T	A	17: 29,546,852 (GRCm39)	N475K	probably benign	Het
Pikfyve	G	A	1: 65,307,901 (GRCm39)	A1826T	probably damaging	Het
Plxna1	A	T	6: 89,314,138 (GRCm39)	S768T	probably benign	Het
Plxnc1	T	A	10: 94,700,599 (GRCm39)	R656*	probably null	Het
Poglut1	A	G	16: 38,349,850 (GRCm39)	W308R	probably damaging	Het
Prmt9	T	G	8: 78,285,663 (GRCm39)	V165G	probably benign	Het
Ptch2	A	G	4: 116,961,969 (GRCm39)	E102G	probably damaging	Het
Rpn2	G	T	2: 157,141,500 (GRCm39)	A303S	possibly damaging	Het
Rttn	A	C	18: 89,078,576 (GRCm39)	H1334P	probably damaging	Het
Septin3	A	T	15: 82,163,739 (GRCm39)	D32V	probably damaging	Het
Sftpa1	G	T	14: 40,854,417 (GRCm39)	M1I	probably null	Het
Slc15a2	G	A	16: 36,574,080 (GRCm39)	T591I	probably benign	Het
Slc18a2	C	T	19: 59,262,791 (GRCm39)	T252I	probably benign	Het
Smchd1	A	G	17: 71,694,071 (GRCm39)	F1225L	probably damaging	Het
Sppl2c	G	A	11: 104,078,561 (GRCm39)	G454S	probably damaging	Het
Swt1	A	G	1: 151,286,767 (GRCm39)	S242P	possibly damaging	Het
Tcaim	C	A	9: 122,647,928 (GRCm39)	H148N	probably damaging	Het
Tgfbr3l	T	C	8: 4,299,640 (GRCm39)	V141A	probably damaging	Het
Ticrr	A	G	7: 79,330,735 (GRCm39)	D711G	probably damaging	Het
Trim45	A	T	3: 100,832,319 (GRCm39)	Q184L	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Usp25	G	A	16: 76,904,843 (GRCm39)	R803H	probably damaging	Het
Vmn2r71	T	A	7: 85,273,442 (GRCm39)	M752K	probably damaging	Het
Wdr35	G	A	12: 9,071,826 (GRCm39)	V893I	probably benign	Het
Zdhhc7	G	T	8: 120,814,494 (GRCm39)	P105Q	probably damaging	Het
Zfp316	A	G	5: 143,250,046 (GRCm39)		probably null	Het
Zfp454	G	C	11: 50,764,537 (GRCm39)	N298K	possibly damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	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
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
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'- CTTGCGGTTGAAGAACTCGTC -3'
(R):5'- TCGCCAAAGTGCTGGAGAAG -3'

Sequencing Primer
(F):5'- TTGAAGAACTCGTCGCGGC -3'
(R):5'- TCCTCGCGCATGTCGGATG -3'

Posted On

2022-04-18