Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Crybg3'

326560

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

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

Stock #

R4394 (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: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		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
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	59,376,715 (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'- TGAAGGACTATACTTCACAACTGATGG -3'

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

Posted On

2015-07-06