Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01147:Crybg2'

50988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crybg2

Ensembl Gene

ENSMUSG00000012123

Gene Name

crystallin beta-gamma domain containing 2

Synonyms

Aim1l

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

IGL01147

Quality Score

Status

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 133816575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000696] [ENSMUST00000121391] [ENSMUST00000227683] [ENSMUST00000149956]

AlphaFold

A0A2I3BQG2

Predicted Effect

probably benign
Transcript: ENSMUST00000000696

SMART Domains

Protein: ENSMUSP00000000696
Gene: ENSMUSG00000000682

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:CD52	23	74	1.4e-24	PFAM

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

noncoding transcript
Transcript: ENSMUST00000132872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146102

Predicted Effect

probably null
Transcript: ENSMUST00000227683

Predicted Effect

probably benign
Transcript: ENSMUST00000149956

SMART Domains

Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123

Domain	Start	End	E-Value	Type
XTALbg	1	60	1.39e-2	SMART
XTALbg	62	148	3.99e-27	SMART
XTALbg	156	237	1.4e-22	SMART
XTALbg	250	293	7.78e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,234,611 (GRCm39)		probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Cdh1	C	A	8: 107,387,516 (GRCm39)	T472K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap57	A	T	4: 118,446,198 (GRCm39)	V688E	probably damaging	Het
Cfp	G	A	X: 20,794,981 (GRCm39)	R155C	probably damaging	Het
Chst7	T	C	X: 19,926,991 (GRCm39)	I346T	probably damaging	Het
Ctsc	T	A	7: 87,951,479 (GRCm39)	V242D	possibly damaging	Het
Cyp27b1	C	T	10: 126,886,255 (GRCm39)	T312I	possibly damaging	Het
D6Wsu163e	A	G	6: 126,921,815 (GRCm39)	D80G	possibly damaging	Het
Enpp3	G	T	10: 24,650,805 (GRCm39)	T777K	probably damaging	Het
H2-M1	T	A	17: 36,982,199 (GRCm39)	H134L	possibly damaging	Het
Heatr1	T	C	13: 12,452,793 (GRCm39)	S2105P	probably damaging	Het
Herc2	T	C	7: 55,806,697 (GRCm39)	S2388P	probably benign	Het
Igkv6-23	A	G	6: 70,237,922 (GRCm39)		probably benign	Het
Il1rapl2	C	T	X: 137,121,325 (GRCm39)		probably benign	Het
Itpka	T	C	2: 119,573,254 (GRCm39)	L132P	probably benign	Het
Jak3	T	C	8: 72,136,047 (GRCm39)	S616P	probably benign	Het
Kcnj11	T	C	7: 45,748,193 (GRCm39)	K377E	probably benign	Het
Map4k3	A	T	17: 80,944,147 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,417,145 (GRCm39)	I643T	probably damaging	Het
Phf3	T	C	1: 30,843,250 (GRCm39)	D1903G	probably damaging	Het
Picalm	G	T	7: 89,826,800 (GRCm39)	S416I	probably benign	Het
Pkn2	T	C	3: 142,534,770 (GRCm39)	N285S	probably benign	Het
Sh3gl2	A	C	4: 85,265,433 (GRCm39)		probably benign	Het
Smpd1	C	A	7: 105,204,943 (GRCm39)	T274K	probably damaging	Het
Snap91	G	A	9: 86,680,611 (GRCm39)	T424M	probably benign	Het
Sox13	T	A	1: 133,320,873 (GRCm39)	T46S	probably benign	Het
Syne1	G	A	10: 5,002,691 (GRCm39)	Q8075*	probably null	Het
Trio	T	C	15: 27,881,406 (GRCm39)	E555G	probably damaging	Het
Upf3b	T	C	X: 36,360,586 (GRCm39)	E298G	probably damaging	Het
Vmn1r158	A	G	7: 22,490,204 (GRCm39)	S2P	probably benign	Het
Vmn1r6	T	A	6: 56,979,626 (GRCm39)	L74H	probably damaging	Het
Vwa2	T	C	19: 56,890,066 (GRCm39)	S224P	probably damaging	Het
Wbp1l	T	A	19: 46,632,808 (GRCm39)	V36E	probably damaging	Het
Zfp367	A	G	13: 64,283,253 (GRCm39)	S300P	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
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
R4682: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

Posted On

2013-06-21