Mutagenetix > Incidental Mutation

Incidental Mutation 'R6843:Crybg3'

534642

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

044949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R6843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59380159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 365 (T365M)

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: T365M

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,360 (GRCm39)	Q78L	probably benign	Het
Akr1c21	A	G	13: 4,625,213 (GRCm39)	H48R	probably damaging	Het
Anks1b	T	A	10: 90,784,460 (GRCm39)	S1143T	probably damaging	Het
Apip	T	G	2: 102,922,834 (GRCm39)	F217L	probably benign	Het
Ash1l	T	A	3: 88,892,695 (GRCm39)	Y1525N	probably damaging	Het
Bcl2l13	G	A	6: 120,825,578 (GRCm39)		probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Clk4	T	G	11: 51,167,076 (GRCm39)		probably null	Het
Cnr2	C	T	4: 135,644,900 (GRCm39)	P326L	probably benign	Het
Cryaa	A	G	17: 31,897,147 (GRCm39)	D58G	possibly damaging	Het
Csmd2	A	G	4: 128,357,587 (GRCm39)	N1683D	probably benign	Het
Dbx2	T	G	15: 95,552,340 (GRCm39)	I102L	possibly damaging	Het
Dll4	A	T	2: 119,156,475 (GRCm39)		probably benign	Het
Epb42	T	A	2: 120,858,166 (GRCm39)	Y264F	possibly damaging	Het
Exoc3l	T	A	8: 106,016,729 (GRCm39)	H695L	probably benign	Het
Fhip1a	G	A	3: 85,580,352 (GRCm39)	P618S	probably damaging	Het
Ghsr	A	C	3: 27,426,676 (GRCm39)	D244A	probably benign	Het
Gm9195	A	G	14: 72,678,651 (GRCm39)	Y2268H	possibly damaging	Het
Hdac1	A	G	4: 129,436,383 (GRCm39)	Y14H	probably damaging	Het
Hdac3	A	T	18: 38,075,007 (GRCm39)	Y282N	probably benign	Het
Heg1	T	A	16: 33,539,896 (GRCm39)	N285K	probably benign	Het
Igkv4-90	A	G	6: 68,784,670 (GRCm39)	F8S	possibly damaging	Het
Map2k1	A	T	9: 64,094,973 (GRCm39)	D336E	probably damaging	Het
Map4k2	A	T	19: 6,403,477 (GRCm39)	I796F	probably damaging	Het
Mapk13	T	A	17: 28,994,427 (GRCm39)		probably null	Het
Mprip	A	G	11: 59,650,554 (GRCm39)	I1419M	possibly damaging	Het
Nrap	T	C	19: 56,368,651 (GRCm39)	E255G	probably damaging	Het
Oprl1	A	G	2: 181,357,547 (GRCm39)	E11G	probably damaging	Het
Or1i2	T	C	10: 78,447,891 (GRCm39)	N195D	probably damaging	Het
Or4f14	T	C	2: 111,743,260 (GRCm39)	N5S	probably damaging	Het
Or52b3	A	G	7: 102,203,928 (GRCm39)	I146V	probably benign	Het
Or5b99	G	T	19: 12,976,362 (GRCm39)	C4F	probably benign	Het
Or6c209	A	G	10: 129,483,048 (GRCm39)	D17G	possibly damaging	Het
Palmd	T	A	3: 116,717,864 (GRCm39)	D211V	probably damaging	Het
Pcdhga11	A	G	18: 37,889,378 (GRCm39)	N129D	probably damaging	Het
Plekha6	T	A	1: 133,202,616 (GRCm39)	M359K	probably damaging	Het
Plekha7	G	T	7: 115,742,555 (GRCm39)	H756Q	probably benign	Het
Ppfibp2	C	T	7: 107,326,938 (GRCm39)	P441S	probably benign	Het
Ptprk	T	C	10: 28,467,978 (GRCm39)	I1373T	possibly damaging	Het
Serpinb9g	G	T	13: 33,676,900 (GRCm39)	L227F	probably damaging	Het
Snapc4	C	A	2: 26,263,611 (GRCm39)	A11S	probably benign	Het
Sqor	T	C	2: 122,626,900 (GRCm39)	V7A	probably benign	Het
Sqor	G	T	2: 122,651,215 (GRCm39)	G437V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
Stx1b	G	A	7: 127,414,151 (GRCm39)	Q72*	probably null	Het
Syt7	A	G	19: 10,399,135 (GRCm39)	D77G	probably damaging	Het
Tvp23a	G	A	16: 10,264,884 (GRCm39)	A9V	probably benign	Het
Vmn1r66	T	A	7: 10,008,692 (GRCm39)	I114F	probably damaging	Het
Vmn2r80	C	A	10: 79,005,502 (GRCm39)	Q380K	probably benign	Het
Xdh	C	T	17: 74,230,125 (GRCm39)	E269K	probably damaging	Het
Zfp932	T	C	5: 110,156,581 (GRCm39)	M92T	probably benign	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
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'- CATCAGATTTACTGCGGGAGAAG -3'
(R):5'- GGAGGTCCATTAGAAGCCTCTG -3'

Sequencing Primer
(F):5'- GTCAGGAACAGAAGGCCTC -3'
(R):5'- GTCCATTAGAAGCCTCTGGTTATAGC -3'

Posted On

2018-09-12