Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Crybg3'

316487

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59490775-59600979 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 59555757 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037682 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000172910
AA Change: D1711E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.5013

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably damaging	Het

Other mutations in Crybg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Crybg3	APN	16	59530440	missense	probably benign	0.15
IGL01305:Crybg3	APN	16	59529227	missense	probably damaging	1.00
IGL01809:Crybg3	APN	16	59524853	critical splice donor site	probably benign	0.00
IGL02247:Crybg3	APN	16	59503150	missense	probably damaging	1.00
IGL02252:Crybg3	APN	16	59552524	splice site	probably benign
IGL03036:Crybg3	APN	16	59555179	missense	possibly damaging	0.68
IGL03202:Crybg3	APN	16	59494709	missense	probably damaging	1.00
IGL03232:Crybg3	APN	16	59530368	missense	probably damaging	1.00
ANU22:Crybg3	UTSW	16	59529227	missense	probably damaging	1.00
R0052:Crybg3	UTSW	16	59565656	splice site	probably benign
R0335:Crybg3	UTSW	16	59544140	missense	probably damaging	1.00
R0691:Crybg3	UTSW	16	59565211	critical splice donor site	probably null
R1511:Crybg3	UTSW	16	59554112	missense	probably benign	0.01
R1579:Crybg3	UTSW	16	59530198	missense	probably damaging	1.00
R1965:Crybg3	UTSW	16	59503237	missense	probably damaging	1.00
R1982:Crybg3	UTSW	16	59544125	missense	possibly damaging	0.85
R2225:Crybg3	UTSW	16	59554678	missense	probably damaging	1.00
R4210:Crybg3	UTSW	16	59544051	missense	probably damaging	1.00
R4393:Crybg3	UTSW	16	59560095	unclassified	probably benign
R4394:Crybg3	UTSW	16	59560095	unclassified	probably benign
R4397:Crybg3	UTSW	16	59560095	unclassified	probably benign
R4427:Crybg3	UTSW	16	59543199	missense	probably damaging	1.00
R4578:Crybg3	UTSW	16	59530201	missense	probably damaging	1.00
R4720:Crybg3	UTSW	16	59539817	missense	probably damaging	1.00
R4917:Crybg3	UTSW	16	59530419	missense	probably benign	0.14
R5007:Crybg3	UTSW	16	59558100	unclassified	probably benign
R5020:Crybg3	UTSW	16	59554796	missense	possibly damaging	0.55
R5155:Crybg3	UTSW	16	59524901	missense	possibly damaging	0.91
R5306:Crybg3	UTSW	16	59559993	unclassified	probably benign
R5342:Crybg3	UTSW	16	59522149	missense	probably damaging	1.00
R5687:Crybg3	UTSW	16	59559166	missense	probably benign	0.00
R5763:Crybg3	UTSW	16	59554610	missense	possibly damaging	0.74
R5860:Crybg3	UTSW	16	59565269	missense	probably damaging	1.00
R5950:Crybg3	UTSW	16	59493571	unclassified	probably benign
R6007:Crybg3	UTSW	16	59554474	nonsense	probably null
R6042:Crybg3	UTSW	16	59550475	missense	possibly damaging	0.70
R6049:Crybg3	UTSW	16	59544054	missense	probably benign	0.00
R6242:Crybg3	UTSW	16	59555690	missense	probably benign
R6301:Crybg3	UTSW	16	59530338	missense	probably damaging	1.00
R6408:Crybg3	UTSW	16	59495690	missense	possibly damaging	0.71
R6724:Crybg3	UTSW	16	59544138	missense	probably benign	0.13
R6745:Crybg3	UTSW	16	59552244	missense	possibly damaging	0.93
R6777:Crybg3	UTSW	16	59558315	unclassified	probably benign
R6843:Crybg3	UTSW	16	59559796	missense	probably benign	0.22
R6914:Crybg3	UTSW	16	59539820	missense	possibly damaging	0.89
R6942:Crybg3	UTSW	16	59539820	missense	possibly damaging	0.89
R7033:Crybg3	UTSW	16	59554165	missense	probably damaging	1.00
R7091:Crybg3	UTSW	16	59557168	missense	possibly damaging	0.77
R7133:Crybg3	UTSW	16	59536804	missense	probably damaging	1.00
R7193:Crybg3	UTSW	16	59559593	missense	possibly damaging	0.87
R7204:Crybg3	UTSW	16	59558890	missense	probably benign	0.00
R7398:Crybg3	UTSW	16	59557325	missense	probably benign	0.38
R7666:Crybg3	UTSW	16	59559337	nonsense	probably null
R7691:Crybg3	UTSW	16	59556134	missense	not run
R7714:Crybg3	UTSW	16	59558873	missense	probably benign	0.19
R7860:Crybg3	UTSW	16	59555242	missense	probably benign	0.04
R7901:Crybg3	UTSW	16	59557544	missense	probably damaging	0.98
R8371:Crybg3	UTSW	16	59557051	missense	probably benign	0.00
R8394:Crybg3	UTSW	16	59558288	missense	probably benign	0.06
R8438:Crybg3	UTSW	16	59565292	missense	probably benign	0.02
R8529:Crybg3	UTSW	16	59556621	missense	probably damaging	0.98
R8699:Crybg3	UTSW	16	59554928	missense	probably damaging	1.00
R8766:Crybg3	UTSW	16	59555333	missense	probably benign	0.05
R8767:Crybg3	UTSW	16	59556137	missense	probably benign
R8789:Crybg3	UTSW	16	59554996	missense	probably benign	0.00
R8871:Crybg3	UTSW	16	59558156	missense	probably benign
R8878:Crybg3	UTSW	16	59560184	missense	probably benign	0.09
R8894:Crybg3	UTSW	16	59522189	missense	probably damaging	0.97
R8928:Crybg3	UTSW	16	59494760	missense	probably benign	0.31
R8928:Crybg3	UTSW	16	59556352	missense	probably benign	0.40
R8939:Crybg3	UTSW	16	59556149	missense	probably benign	0.00
R9010:Crybg3	UTSW	16	59554339	missense	probably damaging	0.98
R9266:Crybg3	UTSW	16	59552181	missense	probably damaging	0.99
R9348:Crybg3	UTSW	16	59600893	start codon destroyed	probably null	0.66
R9353:Crybg3	UTSW	16	59600744	critical splice donor site	probably null
R9406:Crybg3	UTSW	16	59558476	missense	probably benign	0.42
R9429:Crybg3	UTSW	16	59555193	missense	probably benign	0.08
R9464:Crybg3	UTSW	16	59555757	unclassified	probably benign
R9621:Crybg3	UTSW	16	59506250	missense	possibly damaging	0.73
R9703:Crybg3	UTSW	16	59555576	missense	probably damaging	0.96
R9751:Crybg3	UTSW	16	59557524	missense	possibly damaging	0.55
R9766:Crybg3	UTSW	16	59555844	missense	probably benign	0.03
RF007:Crybg3	UTSW	16	59556704	missense	possibly damaging	0.94
Z1177:Crybg3	UTSW	16	59555393	nonsense	probably null
Z1177:Crybg3	UTSW	16	59556478	missense	probably benign	0.09
Z1187:Crybg3	UTSW	16	59506245	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTTCAGCATCCCTTAGGG -3'
(R):5'- CTATCGTAAAGACCGAGGTGGC -3'

Sequencing Primer
(F):5'- CCTTAGGGGAGACACAGGTC -3'
(R):5'- GGCACCTATTTCAATTGAGATGG -3'

Posted On

2015-05-15