Mutagenetix > Incidental Mutation

Incidental Mutation 'R4682:Crybg2'

397267

Institutional Source

Beutler Lab

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

MMRRC Submission

041934-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R4682 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTTCCAGAGCCATGGACCCATCTTTTCCA to CTTCCA at 133800029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121391] [ENSMUST00000137053] [ENSMUST00000219402] [ENSMUST00000227683]

AlphaFold

A0A2I3BQG2

Predicted Effect

probably null
Transcript: ENSMUST00000121391

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123

Domain	Start	End	E-Value	Type
low complexity region	171	205	N/A	INTRINSIC
low complexity region	210	226	N/A	INTRINSIC
low complexity region	414	443	N/A	INTRINSIC
low complexity region	560	582	N/A	INTRINSIC
low complexity region	608	625	N/A	INTRINSIC
coiled coil region	683	703	N/A	INTRINSIC
low complexity region	812	824	N/A	INTRINSIC
XTALbg	842	921	2.56e-7	SMART
XTALbg	929	1010	9.33e-10	SMART
XTALbg	1024	1110	5.06e-29	SMART
XTALbg	1118	1199	1.4e-22	SMART
XTALbg	1212	1291	2.22e-16	SMART
XTALbg	1299	1379	1.69e-16	SMART
RICIN	1383	1514	7.89e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000137053

Predicted Effect

probably benign
Transcript: ENSMUST00000219402

Predicted Effect

probably null
Transcript: ENSMUST00000227683

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,505,925 (GRCm39)	V637A	probably benign	Het
Aurkc	G	A	7: 6,998,538 (GRCm39)	V33M	probably null	Het
Dapk1	T	A	13: 60,898,961 (GRCm39)	S810R	probably benign	Het
Dpm2	C	T	2: 32,462,290 (GRCm39)		probably benign	Het
Fgb	A	T	3: 82,950,572 (GRCm39)	F394Y	probably benign	Het
Fry	A	G	5: 150,346,219 (GRCm39)	Y1576C	probably damaging	Het
Gabra4	T	C	5: 71,815,152 (GRCm39)	M1V	probably null	Het
Grhl1	T	G	12: 24,658,432 (GRCm39)	V359G	probably benign	Het
Hdac5	T	C	11: 102,097,456 (GRCm39)	S158G	probably null	Het
Hdgfl1	T	C	13: 26,953,230 (GRCm39)	E281G	possibly damaging	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Inpp1	T	C	1: 52,833,760 (GRCm39)	N112S	probably benign	Het
Itih1	C	A	14: 30,659,800 (GRCm39)	A279S	probably damaging	Het
Mad1l1	A	T	5: 140,286,007 (GRCm39)	M296K	possibly damaging	Het
Mark4	T	C	7: 19,179,097 (GRCm39)		probably null	Het
Mrpl48	T	A	7: 100,198,576 (GRCm39)	D192V	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nckap5	A	T	1: 126,030,279 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,108,879 (GRCm39)	T731A	noncoding transcript	Het
Or4d6	T	C	19: 12,086,049 (GRCm39)	Y287C	probably damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Plekhm3	T	C	1: 64,977,086 (GRCm39)	D128G	possibly damaging	Het
Ppp1r9a	A	G	6: 4,905,477 (GRCm39)	T11A	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rnf138	T	A	18: 21,143,791 (GRCm39)	Y112N	probably damaging	Het
Scn9a	A	T	2: 66,377,362 (GRCm39)	V442E	probably benign	Het
Slc36a4	C	A	9: 15,638,144 (GRCm39)	S190*	probably null	Het
Slc46a1	A	G	11: 78,359,502 (GRCm39)	K378R	possibly damaging	Het
Snai2	T	C	16: 14,526,150 (GRCm39)	V267A	probably benign	Het
Srrm2	T	A	17: 24,034,666 (GRCm39)	S533T	probably benign	Het
St6galnac4	T	A	2: 32,484,111 (GRCm39)	M103K	probably damaging	Het
Tap2	C	A	17: 34,433,006 (GRCm39)	Y429*	probably null	Het
Traf7	T	C	17: 24,732,348 (GRCm39)	K159E	probably damaging	Het
Zfp111	T	G	7: 23,898,563 (GRCm39)	K349N	probably damaging	Het
Zfp462	A	G	4: 55,011,376 (GRCm39)	Y1114C	probably damaging	Het

Other mutations in Crybg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:Crybg2	APN	4	133,802,755 (GRCm39)	missense	possibly damaging	0.57
IGL01147:Crybg2	APN	4	133,816,575 (GRCm39)	splice site	probably null
IGL02003:Crybg2	APN	4	133,799,767 (GRCm39)	missense	probably benign
IGL02468:Crybg2	APN	4	133,809,898 (GRCm39)	missense	probably damaging	1.00
R0089:Crybg2	UTSW	4	133,808,505 (GRCm39)	missense	probably damaging	1.00
R0414:Crybg2	UTSW	4	133,799,947 (GRCm39)	small deletion	probably benign
R0579:Crybg2	UTSW	4	133,800,049 (GRCm39)	missense	probably damaging	0.97
R0634:Crybg2	UTSW	4	133,802,615 (GRCm39)	splice site	probably benign
R0638:Crybg2	UTSW	4	133,801,765 (GRCm39)	missense	probably damaging	1.00
R0686:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R1583:Crybg2	UTSW	4	133,808,770 (GRCm39)	missense	probably damaging	1.00
R1651:Crybg2	UTSW	4	133,802,214 (GRCm39)	missense	probably benign	0.07
R1651:Crybg2	UTSW	4	133,802,136 (GRCm39)	missense	possibly damaging	0.84
R1752:Crybg2	UTSW	4	133,800,961 (GRCm39)	missense	probably damaging	0.96
R1883:Crybg2	UTSW	4	133,801,594 (GRCm39)	nonsense	probably null
R1903:Crybg2	UTSW	4	133,806,167 (GRCm39)	missense	probably damaging	1.00
R2042:Crybg2	UTSW	4	133,814,844 (GRCm39)	missense	possibly damaging	0.89
R2081:Crybg2	UTSW	4	133,816,131 (GRCm39)	missense	possibly damaging	0.82
R2229:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R2321:Crybg2	UTSW	4	133,801,822 (GRCm39)	missense	probably benign	0.38
R2392:Crybg2	UTSW	4	133,799,925 (GRCm39)	missense	probably benign	0.01
R2939:Crybg2	UTSW	4	133,809,745 (GRCm39)	missense	possibly damaging	0.46
R2940:Crybg2	UTSW	4	133,809,745 (GRCm39)	missense	possibly damaging	0.46
R3028:Crybg2	UTSW	4	133,801,095 (GRCm39)	missense	probably benign	0.19
R4458:Crybg2	UTSW	4	133,802,205 (GRCm39)	missense	probably benign	0.32
R4487:Crybg2	UTSW	4	133,801,512 (GRCm39)	missense	probably benign	0.00
R4680:Crybg2	UTSW	4	133,800,029 (GRCm39)	frame shift	probably null
R4681:Crybg2	UTSW	4	133,800,029 (GRCm39)	frame shift	probably null
R4766:Crybg2	UTSW	4	133,816,663 (GRCm39)	missense	probably damaging	1.00
R5079:Crybg2	UTSW	4	133,801,564 (GRCm39)	missense	possibly damaging	0.83
R5291:Crybg2	UTSW	4	133,800,738 (GRCm39)	missense	probably benign	0.00
R5453:Crybg2	UTSW	4	133,806,147 (GRCm39)	critical splice acceptor site	probably null
R5711:Crybg2	UTSW	4	133,809,938 (GRCm39)	missense	probably damaging	0.97
R5834:Crybg2	UTSW	4	133,801,434 (GRCm39)	missense	probably benign	0.12
R5969:Crybg2	UTSW	4	133,803,003 (GRCm39)	splice site	probably null
R5976:Crybg2	UTSW	4	133,801,837 (GRCm39)	small deletion	probably benign
R6022:Crybg2	UTSW	4	133,801,584 (GRCm39)	nonsense	probably null
R6046:Crybg2	UTSW	4	133,819,388 (GRCm39)	missense	probably damaging	1.00
R6088:Crybg2	UTSW	4	133,803,101 (GRCm39)	splice site	probably null
R6196:Crybg2	UTSW	4	133,808,450 (GRCm39)	missense	probably damaging	0.99
R6246:Crybg2	UTSW	4	133,816,657 (GRCm39)	missense	probably damaging	0.96
R6303:Crybg2	UTSW	4	133,814,898 (GRCm39)	missense	possibly damaging	0.66
R6320:Crybg2	UTSW	4	133,808,737 (GRCm39)	missense	probably damaging	1.00
R6354:Crybg2	UTSW	4	133,818,447 (GRCm39)	missense	probably benign	0.39
R6737:Crybg2	UTSW	4	133,800,001 (GRCm39)	missense	probably damaging	0.99
R6744:Crybg2	UTSW	4	133,816,207 (GRCm39)	missense	probably damaging	1.00
R6847:Crybg2	UTSW	4	133,792,857 (GRCm39)	missense	probably benign	0.40
R6891:Crybg2	UTSW	4	133,809,148 (GRCm39)	missense	probably benign	0.32
R7043:Crybg2	UTSW	4	133,818,447 (GRCm39)	missense	probably benign	0.39
R7133:Crybg2	UTSW	4	133,792,754 (GRCm39)	missense	probably benign	0.09
R7166:Crybg2	UTSW	4	133,788,193 (GRCm39)	missense	probably damaging	0.96
R7412:Crybg2	UTSW	4	133,801,434 (GRCm39)	missense	probably benign	0.12
R7711:Crybg2	UTSW	4	133,792,844 (GRCm39)	missense	probably benign	0.00
R7745:Crybg2	UTSW	4	133,816,156 (GRCm39)	missense	possibly damaging	0.92
R7782:Crybg2	UTSW	4	133,801,137 (GRCm39)	missense	probably benign	0.00
R7871:Crybg2	UTSW	4	133,814,910 (GRCm39)	missense	probably damaging	1.00
R7943:Crybg2	UTSW	4	133,800,295 (GRCm39)	missense	probably damaging	0.97
R8008:Crybg2	UTSW	4	133,818,415 (GRCm39)	missense	probably damaging	1.00
R8017:Crybg2	UTSW	4	133,800,484 (GRCm39)	missense	possibly damaging	0.95
R8292:Crybg2	UTSW	4	133,802,842 (GRCm39)	missense	probably damaging	1.00
R8391:Crybg2	UTSW	4	133,803,035 (GRCm39)	missense	probably damaging	0.97
R8510:Crybg2	UTSW	4	133,800,670 (GRCm39)	missense	probably benign
R8535:Crybg2	UTSW	4	133,808,514 (GRCm39)	missense	probably damaging	1.00
R8695:Crybg2	UTSW	4	133,792,766 (GRCm39)	missense	possibly damaging	0.55
R8789:Crybg2	UTSW	4	133,801,554 (GRCm39)	missense	probably benign	0.00
R8870:Crybg2	UTSW	4	133,818,525 (GRCm39)	missense	possibly damaging	0.88
R9052:Crybg2	UTSW	4	133,803,035 (GRCm39)	missense	probably damaging	0.97
R9071:Crybg2	UTSW	4	133,818,542 (GRCm39)	missense	probably damaging	1.00
R9088:Crybg2	UTSW	4	133,799,890 (GRCm39)	missense	probably damaging	0.99
R9154:Crybg2	UTSW	4	133,792,620 (GRCm39)	missense	probably benign	0.02
R9440:Crybg2	UTSW	4	133,801,602 (GRCm39)	missense	probably benign	0.00
R9540:Crybg2	UTSW	4	133,816,225 (GRCm39)	missense	probably damaging	0.98
R9606:Crybg2	UTSW	4	133,801,383 (GRCm39)	nonsense	probably null
R9641:Crybg2	UTSW	4	133,816,620 (GRCm39)	nonsense	probably null
R9719:Crybg2	UTSW	4	133,793,148 (GRCm39)	missense	probably benign	0.01
R9734:Crybg2	UTSW	4	133,801,962 (GRCm39)	missense	probably benign	0.00
X0064:Crybg2	UTSW	4	133,816,587 (GRCm39)	missense	probably damaging	0.98
Z1176:Crybg2	UTSW	4	133,809,971 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAGCAGACACCGTTTTCAC -3'
(R):5'- TTCCTCACGATTCCTGGAAC -3'

Sequencing Primer
(F):5'- TCACAAAGTGTCCCTGGTGTCAG -3'
(R):5'- ATGCGGACTTGGCTCAC -3'

Posted On

2016-07-05