Mutagenetix > Incidental Mutation

Incidental Mutation 'R8928:Crybg3'

692994

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

068772-MU

Accession Numbers

Essential gene?

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

Stock #

R8928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59376715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1513 (V1513A)

Ref Sequence

ENSEMBL: ENSMUSP00000156047 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044604

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723

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: V1513A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,596,626 (GRCm39)	S1056I	possibly damaging	Het
Ajm1	A	G	2: 25,468,577 (GRCm39)	Y445H	possibly damaging	Het
Akap13	T	A	7: 75,259,606 (GRCm39)	D743E	probably benign	Het
Alas1	T	A	9: 106,118,513 (GRCm39)	H203L	probably benign	Het
Ankfn1	G	A	11: 89,429,279 (GRCm39)	T35I	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Cabp7	T	A	11: 4,696,640 (GRCm39)	I30F	possibly damaging	Het
Ccdc113	T	C	8: 96,267,584 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,462,245 (GRCm39)		probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cep85	G	T	4: 133,859,715 (GRCm39)	H651Q	probably benign	Het
Cfap43	T	A	19: 47,804,399 (GRCm39)	I266L	probably benign	Het
Csmd2	G	T	4: 128,369,582 (GRCm39)	V1905L		Het
D630003M21Rik	T	C	2: 158,059,447 (GRCm39)	E151G	probably damaging	Het
Dnah10	A	T	5: 124,866,828 (GRCm39)	Y2306F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,674 (GRCm39)		probably benign	Het
Dsc1	G	T	18: 20,243,225 (GRCm39)	T76K	probably benign	Het
Egfem1	A	C	3: 29,744,561 (GRCm39)	*591C	probably null	Het
Elapor2	T	A	5: 9,496,979 (GRCm39)	H814Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fn1	T	C	1: 71,641,777 (GRCm39)		probably benign	Het
Fsd2	T	C	7: 81,209,354 (GRCm39)	T163A	probably benign	Het
Gm45844	A	G	7: 7,281,094 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,302,723 (GRCm39)	V996D	probably benign	Het
Hepacam2	C	A	6: 3,467,623 (GRCm39)		probably null	Het
Hira	A	G	16: 18,716,537 (GRCm39)	T101A	probably benign	Het
Ighv8-9	T	A	12: 115,432,204 (GRCm39)	T36S	possibly damaging	Het
Lama5	A	T	2: 179,843,832 (GRCm39)	C413S	probably damaging	Het
Lpcat2b	G	T	5: 107,580,913 (GRCm39)	V81L	probably benign	Het
Map1b	C	G	13: 99,568,624 (GRCm39)	E1366Q	unknown	Het
Marchf4	C	A	1: 72,574,035 (GRCm39)	A88S	probably benign	Het
Mbnl2	A	G	14: 120,633,974 (GRCm39)	T324A	probably benign	Het
Mipol1	T	A	12: 57,507,651 (GRCm39)	M387K	probably benign	Het
Mtor	T	C	4: 148,623,356 (GRCm39)	S2069P	probably damaging	Het
Mycbp2	T	A	14: 103,393,781 (GRCm39)	T2927S	probably benign	Het
Nfatc1	A	T	18: 80,741,180 (GRCm39)	N273K	possibly damaging	Het
Or10p22	T	C	10: 128,826,317 (GRCm39)	C179R	probably damaging	Het
Or2i1	T	A	17: 37,507,861 (GRCm39)	T258S	probably damaging	Het
Or5k15	T	A	16: 58,709,750 (GRCm39)	T278S	possibly damaging	Het
Or5v1	A	T	17: 37,809,583 (GRCm39)	I14F	probably damaging	Het
Or7a36	A	G	10: 78,820,547 (GRCm39)	K308E		Het
Or8b49	A	T	9: 38,505,662 (GRCm39)	L48F	probably damaging	Het
Parp16	A	G	9: 65,133,396 (GRCm39)	D79G	probably benign	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptcd2	G	A	13: 99,476,505 (GRCm39)	T78I	probably damaging	Het
Rbpjl	A	G	2: 164,250,313 (GRCm39)	Y155C	probably damaging	Het
Slc5a7	G	T	17: 54,591,258 (GRCm39)	Q225K	possibly damaging	Het
Stom	T	C	2: 35,205,937 (GRCm39)	N264S	probably damaging	Het
Tbc1d2b	C	T	9: 90,108,190 (GRCm39)	E454K	probably damaging	Het
Tmem209	C	T	6: 30,489,365 (GRCm39)	C495Y	probably damaging	Het
Tnn	T	C	1: 159,953,099 (GRCm39)	D647G	probably damaging	Het
Vmn2r44	A	T	7: 8,381,101 (GRCm39)	V264E	probably damaging	Het
Wscd2	A	T	5: 113,715,401 (GRCm39)	I414F	possibly damaging	Het
Xkr5	A	G	8: 18,983,787 (GRCm39)	V585A	probably benign	Het
Zfp456	G	A	13: 67,514,603 (GRCm39)	R368C	probably benign	Het
Zscan18	G	A	7: 12,509,120 (GRCm39)	Q127*	probably null	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
R8766:Crybg3	UTSW	16	59,375,696 (GRCm39)	missense	probably benign	0.05
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	59,315,123 (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'- GCGAAAACGTTAGCCTCTGG -3'
(R):5'- TGGATAATCACAAGATGGCAGC -3'

Sequencing Primer
(F):5'- GGCTCAGCTTTCATACTGTTCAATTC -3'
(R):5'- GCAGCAGCAGATACTAGAACTCTTG -3'

Posted On

2022-01-20