Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Crybg3'

667903

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

068600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R8766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59375696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 139 (R139C)

Ref Sequence

ENSEMBL: ENSMUSP00000037682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000172910]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044604
AA Change: R139C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: R139C

Domain	Start	End	E-Value	Type
low complexity region	258	273	N/A	INTRINSIC
low complexity region	282	290	N/A	INTRINSIC
XTALbg	430	516	2.78e-4	SMART
Pfam:Crystall	536	599	3.3e-7	PFAM
XTALbg	614	699	1.2e-21	SMART
XTALbg	707	790	5.73e-19	SMART
XTALbg	803	881	6.87e-5	SMART
XTALbg	889	969	1.28e-7	SMART
RICIN	972	1104	8.16e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172910
AA Change: R1853C

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	T	G	12: 71,001,430 (GRCm39)		probably null	Het
Amz1	A	G	5: 140,733,921 (GRCm39)	N166D	probably benign	Het
Armh4	T	A	14: 50,011,497 (GRCm39)	N70I	probably damaging	Het
Asah2	A	G	19: 32,035,280 (GRCm39)	F15S	possibly damaging	Het
Axin2	A	G	11: 108,814,657 (GRCm39)	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,002,881 (GRCm39)	L326P	probably damaging	Het
Ccdc169	T	C	3: 55,058,245 (GRCm39)		probably null	Het
Cct8	A	T	16: 87,285,756 (GRCm39)	V234D	probably damaging	Het
Cdh19	T	C	1: 110,817,844 (GRCm39)	R633G	probably benign	Het
Clca3a1	A	T	3: 144,714,939 (GRCm39)		probably benign	Het
Crat	G	A	2: 30,297,075 (GRCm39)	P293S	probably benign	Het
Ctbs	A	G	3: 146,165,588 (GRCm39)	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 114,967,262 (GRCm39)	H438R	probably damaging	Het
Dglucy	C	A	12: 100,837,706 (GRCm39)	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142 (GRCm39)	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,095,860 (GRCm39)	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,155,749 (GRCm39)	E341G	probably benign	Het
Gk2	T	A	5: 97,604,110 (GRCm39)	M243L	probably benign	Het
Grhl3	T	A	4: 135,300,724 (GRCm39)	E4D	probably benign	Het
Hsd17b13	T	C	5: 104,125,009 (GRCm39)	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,428,148 (GRCm39)	Q9*	probably null	Het
Izumo1	G	A	7: 45,276,496 (GRCm39)	S353N	probably benign	Het
Klhl31	T	C	9: 77,557,445 (GRCm39)	S54P	possibly damaging	Het
Lonp2	T	C	8: 87,363,198 (GRCm39)	M272T	probably benign	Het
Ltbp1	T	A	17: 75,603,250 (GRCm39)	C682*	probably null	Het
Magi2	A	G	5: 20,400,123 (GRCm39)	K52E	probably benign	Het
Nab2	C	T	10: 127,502,417 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,390,356 (GRCm39)	V435D	probably damaging	Het
Nid2	A	G	14: 19,802,340 (GRCm39)	D87G	probably benign	Het
Or10a3	A	G	7: 108,480,453 (GRCm39)	M120T	probably benign	Het
Or9a7	T	C	6: 40,521,485 (GRCm39)	M143V	probably benign	Het
Pamr1	T	C	2: 102,380,538 (GRCm39)	M1T	probably null	Het
Pard3b	T	C	1: 62,198,637 (GRCm39)	C242R	probably benign	Het
Pcif1	T	A	2: 164,727,346 (GRCm39)	V106E	probably benign	Het
Pitx2	T	A	3: 129,012,223 (GRCm39)	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,166,919 (GRCm39)	Y877*	probably null	Het
Prkch	A	G	12: 73,749,312 (GRCm39)	N354S	probably benign	Het
Psen2	T	A	1: 180,073,201 (GRCm39)	D40V	probably benign	Het
Rfx7	T	A	9: 72,524,021 (GRCm39)	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,683,855 (GRCm39)	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,196,711 (GRCm39)	D263G	probably benign	Het
Tox	T	C	4: 6,823,047 (GRCm39)	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722 (GRCm39)	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,963,100 (GRCm39)	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,241 (GRCm39)	V660M	probably damaging	Het
Yju2b	C	T	8: 84,988,423 (GRCm39)	R68H	probably damaging	Het
Zfp592	A	T	7: 80,674,353 (GRCm39)	H439L	probably benign	Het
Zfp775	A	T	6: 48,597,113 (GRCm39)	H329L	probably damaging	Het
Zswim5	T	C	4: 116,816,004 (GRCm39)	L364P	probably damaging	Het

Other mutations in Crybg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Crybg3	APN	16	59,350,803 (GRCm39)	missense	probably benign	0.15
IGL01305:Crybg3	APN	16	59,349,590 (GRCm39)	missense	probably damaging	1.00
IGL01809:Crybg3	APN	16	59,345,216 (GRCm39)	critical splice donor site	probably benign	0.00
IGL02247:Crybg3	APN	16	59,323,513 (GRCm39)	missense	probably damaging	1.00
IGL02252:Crybg3	APN	16	59,372,887 (GRCm39)	splice site	probably benign
IGL03036:Crybg3	APN	16	59,375,542 (GRCm39)	missense	possibly damaging	0.68
IGL03202:Crybg3	APN	16	59,315,072 (GRCm39)	missense	probably damaging	1.00
IGL03232:Crybg3	APN	16	59,350,731 (GRCm39)	missense	probably damaging	1.00
ANU22:Crybg3	UTSW	16	59,349,590 (GRCm39)	missense	probably damaging	1.00
R0052:Crybg3	UTSW	16	59,386,019 (GRCm39)	splice site	probably benign
R0335:Crybg3	UTSW	16	59,364,503 (GRCm39)	missense	probably damaging	1.00
R0691:Crybg3	UTSW	16	59,385,574 (GRCm39)	critical splice donor site	probably null
R1511:Crybg3	UTSW	16	59,374,475 (GRCm39)	missense	probably benign	0.01
R1579:Crybg3	UTSW	16	59,350,561 (GRCm39)	missense	probably damaging	1.00
R1965:Crybg3	UTSW	16	59,323,600 (GRCm39)	missense	probably damaging	1.00
R1982:Crybg3	UTSW	16	59,364,488 (GRCm39)	missense	possibly damaging	0.85
R2225:Crybg3	UTSW	16	59,375,041 (GRCm39)	missense	probably damaging	1.00
R4074:Crybg3	UTSW	16	59,376,120 (GRCm39)	unclassified	probably benign
R4210:Crybg3	UTSW	16	59,364,414 (GRCm39)	missense	probably damaging	1.00
R4393:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4394:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4397:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4427:Crybg3	UTSW	16	59,363,562 (GRCm39)	missense	probably damaging	1.00
R4578:Crybg3	UTSW	16	59,350,564 (GRCm39)	missense	probably damaging	1.00
R4720:Crybg3	UTSW	16	59,360,180 (GRCm39)	missense	probably damaging	1.00
R4917:Crybg3	UTSW	16	59,350,782 (GRCm39)	missense	probably benign	0.14
R5007:Crybg3	UTSW	16	59,378,463 (GRCm39)	unclassified	probably benign
R5020:Crybg3	UTSW	16	59,375,159 (GRCm39)	missense	possibly damaging	0.55
R5155:Crybg3	UTSW	16	59,345,264 (GRCm39)	missense	possibly damaging	0.91
R5306:Crybg3	UTSW	16	59,380,356 (GRCm39)	unclassified	probably benign
R5342:Crybg3	UTSW	16	59,342,512 (GRCm39)	missense	probably damaging	1.00
R5687:Crybg3	UTSW	16	59,379,529 (GRCm39)	missense	probably benign	0.00
R5763:Crybg3	UTSW	16	59,374,973 (GRCm39)	missense	possibly damaging	0.74
R5860:Crybg3	UTSW	16	59,385,632 (GRCm39)	missense	probably damaging	1.00
R5950:Crybg3	UTSW	16	59,313,934 (GRCm39)	unclassified	probably benign
R6007:Crybg3	UTSW	16	59,374,837 (GRCm39)	nonsense	probably null
R6042:Crybg3	UTSW	16	59,370,838 (GRCm39)	missense	possibly damaging	0.70
R6049:Crybg3	UTSW	16	59,364,417 (GRCm39)	missense	probably benign	0.00
R6242:Crybg3	UTSW	16	59,376,053 (GRCm39)	missense	probably benign
R6301:Crybg3	UTSW	16	59,350,701 (GRCm39)	missense	probably damaging	1.00
R6408:Crybg3	UTSW	16	59,316,053 (GRCm39)	missense	possibly damaging	0.71
R6724:Crybg3	UTSW	16	59,364,501 (GRCm39)	missense	probably benign	0.13
R6745:Crybg3	UTSW	16	59,372,607 (GRCm39)	missense	possibly damaging	0.93
R6777:Crybg3	UTSW	16	59,378,678 (GRCm39)	unclassified	probably benign
R6843:Crybg3	UTSW	16	59,380,159 (GRCm39)	missense	probably benign	0.22
R6914:Crybg3	UTSW	16	59,360,183 (GRCm39)	missense	possibly damaging	0.89
R6942:Crybg3	UTSW	16	59,360,183 (GRCm39)	missense	possibly damaging	0.89
R7033:Crybg3	UTSW	16	59,374,528 (GRCm39)	missense	probably damaging	1.00
R7091:Crybg3	UTSW	16	59,377,531 (GRCm39)	missense	possibly damaging	0.77
R7133:Crybg3	UTSW	16	59,357,167 (GRCm39)	missense	probably damaging	1.00
R7193:Crybg3	UTSW	16	59,379,956 (GRCm39)	missense	possibly damaging	0.87
R7204:Crybg3	UTSW	16	59,379,253 (GRCm39)	missense	probably benign	0.00
R7398:Crybg3	UTSW	16	59,377,688 (GRCm39)	missense	probably benign	0.38
R7666:Crybg3	UTSW	16	59,379,700 (GRCm39)	nonsense	probably null
R7691:Crybg3	UTSW	16	59,376,497 (GRCm39)	missense	not run
R7714:Crybg3	UTSW	16	59,379,236 (GRCm39)	missense	probably benign	0.19
R7860:Crybg3	UTSW	16	59,375,605 (GRCm39)	missense	probably benign	0.04
R7901:Crybg3	UTSW	16	59,377,907 (GRCm39)	missense	probably damaging	0.98
R8371:Crybg3	UTSW	16	59,377,414 (GRCm39)	missense	probably benign	0.00
R8394:Crybg3	UTSW	16	59,378,651 (GRCm39)	missense	probably benign	0.06
R8438:Crybg3	UTSW	16	59,385,655 (GRCm39)	missense	probably benign	0.02
R8529:Crybg3	UTSW	16	59,376,984 (GRCm39)	missense	probably damaging	0.98
R8699:Crybg3	UTSW	16	59,375,291 (GRCm39)	missense	probably damaging	1.00
R8767:Crybg3	UTSW	16	59,376,500 (GRCm39)	missense	probably benign
R8789:Crybg3	UTSW	16	59,375,359 (GRCm39)	missense	probably benign	0.00
R8871:Crybg3	UTSW	16	59,378,519 (GRCm39)	missense	probably benign
R8878:Crybg3	UTSW	16	59,380,547 (GRCm39)	missense	probably benign	0.09
R8894:Crybg3	UTSW	16	59,342,552 (GRCm39)	missense	probably damaging	0.97
R8928:Crybg3	UTSW	16	59,376,715 (GRCm39)	missense	probably benign	0.40
R8928:Crybg3	UTSW	16	59,315,123 (GRCm39)	missense	probably benign	0.31
R8939:Crybg3	UTSW	16	59,376,512 (GRCm39)	missense	probably benign	0.00
R9010:Crybg3	UTSW	16	59,374,702 (GRCm39)	missense	probably damaging	0.98
R9266:Crybg3	UTSW	16	59,372,544 (GRCm39)	missense	probably damaging	0.99
R9348:Crybg3	UTSW	16	59,421,256 (GRCm39)	start codon destroyed	probably null	0.66
R9353:Crybg3	UTSW	16	59,421,107 (GRCm39)	critical splice donor site	probably null
R9406:Crybg3	UTSW	16	59,378,839 (GRCm39)	missense	probably benign	0.42
R9429:Crybg3	UTSW	16	59,375,556 (GRCm39)	missense	probably benign	0.08
R9464:Crybg3	UTSW	16	59,376,120 (GRCm39)	unclassified	probably benign
R9621:Crybg3	UTSW	16	59,326,613 (GRCm39)	missense	possibly damaging	0.73
R9703:Crybg3	UTSW	16	59,375,939 (GRCm39)	missense	probably damaging	0.96
R9751:Crybg3	UTSW	16	59,377,887 (GRCm39)	missense	possibly damaging	0.55
R9766:Crybg3	UTSW	16	59,376,207 (GRCm39)	missense	probably benign	0.03
RF007:Crybg3	UTSW	16	59,377,067 (GRCm39)	missense	possibly damaging	0.94
Z1177:Crybg3	UTSW	16	59,376,841 (GRCm39)	missense	probably benign	0.09
Z1177:Crybg3	UTSW	16	59,375,756 (GRCm39)	nonsense	probably null
Z1187:Crybg3	UTSW	16	59,326,608 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAAGCAAGTCTGTCATCGTG -3'
(R):5'- AGGAAATGCTGAAACAGTCCC -3'

Sequencing Primer
(F):5'- GTCTGTCATCGTGCAAGATCAAGC -3'
(R):5'- GCTGAAACAGTCCCATTTGTGCTAG -3'

Posted On

2021-03-08