Mutagenetix > Incidental Mutation

Incidental Mutation 'R6745:Crybg3'

530551

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

044862-MU

Accession Numbers

Essential gene?

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

Stock #

R6745 (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 59372607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2291 (V2291A)

Ref Sequence

ENSEMBL: ENSMUSP00000156047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000139989] [ENSMUST00000172910]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044604
AA Change: V577A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: V577A

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

noncoding transcript
Transcript: ENSMUST00000139989

SMART Domains

Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723

Domain	Start	End	E-Value	Type
XTALbg	1	86	2.15e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172910
AA Change: V2291A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,265,941 (GRCm39)	T1040K	probably damaging	Het
Adgrf3	A	G	5: 30,408,601 (GRCm39)	V59A	probably benign	Het
Ankk1	G	T	9: 49,327,480 (GRCm39)	H566Q	probably benign	Het
Avil	A	C	10: 126,849,988 (GRCm39)	D613A	probably benign	Het
Bbs9	A	G	9: 22,582,132 (GRCm39)	N613S	probably benign	Het
Chd1	A	G	17: 17,607,429 (GRCm39)	T326A	probably benign	Het
Clasp2	A	T	9: 113,704,338 (GRCm39)	R558*	probably null	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Creb5	A	T	6: 53,581,517 (GRCm39)	M172L	probably benign	Het
Cyp2g1	T	G	7: 26,513,604 (GRCm39)	V181G	probably damaging	Het
Dclk1	T	A	3: 55,385,229 (GRCm39)	S40T	probably damaging	Het
Dnah10	G	T	5: 124,885,876 (GRCm39)	M3053I	probably damaging	Het
Dnah12	T	A	14: 26,428,383 (GRCm39)	I268K	probably damaging	Het
Dock2	C	G	11: 34,596,669 (GRCm39)	D396H	probably damaging	Het
Dock2	T	A	11: 34,596,670 (GRCm39)	K395N	probably damaging	Het
Gpbp1	G	A	13: 111,589,919 (GRCm39)	R59C	probably benign	Het
Ifi47	T	G	11: 48,986,329 (GRCm39)	I32S	probably benign	Het
Ighg3	A	G	12: 113,323,890 (GRCm39)	V166A	unknown	Het
Katnip	T	C	7: 125,369,822 (GRCm39)	S137P	probably benign	Het
Kdm5d	T	A	Y: 927,112 (GRCm39)	C617S	probably benign	Homo
Kif20b	T	G	19: 34,906,276 (GRCm39)	S55A	possibly damaging	Het
Klhl1	C	T	14: 96,517,438 (GRCm39)		probably null	Het
Kndc1	C	T	7: 139,500,892 (GRCm39)	T727I	probably benign	Het
Lrrk1	A	T	7: 65,922,749 (GRCm39)	I298N	probably damaging	Het
Ly75	C	A	2: 60,138,523 (GRCm39)	R1448L	probably damaging	Het
Mup4	C	T	4: 59,960,091 (GRCm39)	V58M	possibly damaging	Het
Nr2c1	T	C	10: 94,026,526 (GRCm39)	F467S	probably damaging	Het
Or14j9	T	A	17: 37,874,470 (GRCm39)	H244L	probably damaging	Het
Pla2g4a	G	T	1: 149,761,981 (GRCm39)	Q151K	probably benign	Het
Pom121l2	A	T	13: 22,167,868 (GRCm39)	Q713L	probably benign	Het
Pomgnt1	T	A	4: 116,011,080 (GRCm39)	S210T	probably damaging	Het
Prb1a	T	C	6: 132,186,383 (GRCm39)		probably null	Het
Pyroxd2	T	C	19: 42,735,799 (GRCm39)	D101G	probably damaging	Het
Ranbp3	A	G	17: 57,016,308 (GRCm39)	D359G	probably benign	Het
Rgsl1	T	A	1: 153,698,063 (GRCm39)	I531F	probably benign	Het
Serpina1b	T	C	12: 103,696,614 (GRCm39)	N265S	possibly damaging	Het
Slc51b	T	C	9: 65,320,212 (GRCm39)	E85G	possibly damaging	Het
Stk32c	T	A	7: 138,702,809 (GRCm39)	R195W	probably damaging	Het
Uggt2	T	C	14: 119,280,022 (GRCm39)	T819A	possibly damaging	Het
Ugt1a9	A	T	1: 87,998,898 (GRCm39)	E116V	probably benign	Het
Zswim5	C	G	4: 116,832,401 (GRCm39)	P543A	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
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'- GACAGCCTCTATAGTGTGTCATAG -3'
(R):5'- GGGTATCATCTGCCGTAACTGC -3'

Sequencing Primer
(F):5'- AAACAGCATTTCAGATATCCTAGTAC -3'
(R):5'- GCCGTAACTGCTTCAAATATTTGC -3'

Posted On

2018-08-01