Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02468:Crybg2'

294619

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: 0.876) question?

Stock #

IGL02468

Quality Score

Status

Chromosome

Chromosomal Location

133788126-133819815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133809898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1217 (S1217P)

Ref Sequence

ENSEMBL: ENSMUSP00000114099 (fasta)

Gene Model

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

AlphaFold

A0A2I3BQG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000121391
AA Change: S1217P

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

SMART Domains

Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1217P

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: ENSMUST00000137529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149504

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149956
AA Change: S255P

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S255P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153392

Predicted Effect

probably damaging
Transcript: ENSMUST00000227683
AA Change: S1526P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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
Adgrl2	A	T	3: 148,596,116 (GRCm39)	D73E	probably damaging	Het
Aspm	A	G	1: 139,408,688 (GRCm39)	Y2525C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep89	T	G	7: 35,102,577 (GRCm39)	S97A	probably benign	Het
Clec16a	T	A	16: 10,559,742 (GRCm39)	I1005N	probably benign	Het
Cog5	T	C	12: 31,887,357 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cytip	A	T	2: 58,024,025 (GRCm39)	M265K	probably benign	Het
Ddx60	T	G	8: 62,411,676 (GRCm39)	S509R	probably damaging	Het
Fat4	T	C	3: 39,037,195 (GRCm39)	S3616P	probably benign	Het
Galnt9	T	C	5: 110,762,089 (GRCm39)	F409S	possibly damaging	Het
Hrh2	T	C	13: 54,368,828 (GRCm39)	V268A	probably benign	Het
Ifi47	T	A	11: 48,986,810 (GRCm39)	S192R	probably damaging	Het
Igdcc4	T	C	9: 65,034,114 (GRCm39)	Y596H	probably damaging	Het
Lamb2	T	C	9: 108,364,348 (GRCm39)	C1096R	probably damaging	Het
Marchf1	A	G	8: 66,871,563 (GRCm39)	Q109R	probably damaging	Het
Or2y1d	A	T	11: 49,321,941 (GRCm39)	I213F	probably damaging	Het
Or7d9	T	C	9: 20,197,574 (GRCm39)	L201P	probably damaging	Het
Or7g32	G	T	9: 19,408,473 (GRCm39)	C143F	probably benign	Het
Patl1	T	A	19: 11,909,574 (GRCm39)	V500D	probably damaging	Het
Pbx3	A	T	2: 34,114,589 (GRCm39)	L57H	probably damaging	Het
Pcdhb1	T	C	18: 37,399,231 (GRCm39)	V394A	probably benign	Het
Pogz	A	G	3: 94,786,394 (GRCm39)	N994S	probably damaging	Het
Prom1	T	A	5: 44,187,040 (GRCm39)	M406L	probably benign	Het
Psg26	T	C	7: 18,212,387 (GRCm39)	S323G	probably damaging	Het
Ptprm	T	C	17: 67,121,504 (GRCm39)	T854A	probably benign	Het
Puf60	A	C	15: 75,947,685 (GRCm39)		probably benign	Het
Six2	C	T	17: 85,992,931 (GRCm39)	E191K	possibly damaging	Het
Tbc1d17	A	G	7: 44,497,753 (GRCm39)	F40L	probably benign	Het
Tektip1	G	T	10: 81,201,563 (GRCm39)	L20I	possibly damaging	Het
Thsd7a	A	G	6: 12,318,170 (GRCm39)	V1600A	probably damaging	Het
Tm4sf19	C	A	16: 32,226,533 (GRCm39)		probably benign	Het
Tnfrsf1a	A	G	6: 125,334,824 (GRCm39)	T33A	probably benign	Het
Troap	A	T	15: 98,973,242 (GRCm39)	T3S	possibly damaging	Het
Wdfy4	T	A	14: 32,688,389 (GRCm39)	I3074L	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	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
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

2015-04-16