Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Crybg3'

325564

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

041685-MU

Accession Numbers

Essential gene?

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

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 59380458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

silent
Transcript: ENSMUST00000172910

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Agap2	G	A	10: 126,926,352 (GRCm39)	A866T	unknown	Het
Aig1	A	C	10: 13,528,726 (GRCm39)	S237A	probably benign	Het
Baz1b	C	T	5: 135,273,300 (GRCm39)	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,727,982 (GRCm39)		probably null	Het
Dnajc15	T	C	14: 78,112,234 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,320,525 (GRCm39)	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897 (GRCm39)	H113Q	probably benign	Het
Gfap	G	A	11: 102,787,810 (GRCm39)	A45V	probably benign	Het
Gjd3	A	T	11: 98,873,247 (GRCm39)	L199Q	probably damaging	Het
Gvin-ps3	A	G	7: 105,682,130 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,519,472 (GRCm39)	D65G	probably damaging	Het
Hcls1	T	C	16: 36,757,662 (GRCm39)	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Iqgap3	T	C	3: 88,011,665 (GRCm39)	Y817H	probably damaging	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Klb	A	G	5: 65,537,382 (GRCm39)	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,149,610 (GRCm39)	S354T	probably benign	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lrp4	T	C	2: 91,342,015 (GRCm39)	V1876A	probably benign	Het
Magi3	T	C	3: 104,127,030 (GRCm39)	T85A	probably damaging	Het
Map3k12	C	T	15: 102,409,694 (GRCm39)	A694T	probably benign	Het
Mex3b	T	C	7: 82,519,031 (GRCm39)	S449P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,622,771 (GRCm39)		probably null	Het
Nlrp1a	T	G	11: 70,988,030 (GRCm39)	M1046L	probably benign	Het
Nphs1	T	G	7: 30,181,390 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,671,040 (GRCm39)	T119M	probably benign	Het
Or6c201	G	T	10: 128,969,450 (GRCm39)	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,871,694 (GRCm39)	I508F	probably damaging	Het
Phactr3	A	G	2: 177,817,199 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,943,193 (GRCm39)	K155E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psg16	T	C	7: 16,824,623 (GRCm39)	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,654,507 (GRCm39)	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,681,319 (GRCm39)	V105A	probably damaging	Het
Rnf7	A	G	9: 96,360,463 (GRCm39)	M58T	probably benign	Het
Slc25a11	G	A	11: 70,535,677 (GRCm39)	A287V	probably benign	Het
Slit2	G	T	5: 48,377,423 (GRCm39)		probably null	Het
Suco	A	G	1: 161,672,421 (GRCm39)	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpv6	A	G	6: 41,602,172 (GRCm39)	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,513,901 (GRCm39)	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,435 (GRCm39)	D549V	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
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	59,376,715 (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'- ATATCCTGCAGTCCTGGGAC -3'
(R):5'- GAAGGACTATACTTCACAACTGATG -3'

Sequencing Primer
(F):5'- CCTGGGACGCTTTCCTGATG -3'
(R):5'- TAAATTATCTGGTACCCATGCTGTC -3'

Posted On

2015-07-06