Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Crybg3'

550236

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59490775-59600979 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59557168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1241 (D1241V)

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

possibly damaging
Transcript: ENSMUST00000172910
AA Change: D1241V

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	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
R4074:Crybg3	UTSW	16	59555757	unclassified	probably benign
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
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'- AACCCGGGTATCTTCAATCTCG -3'
(R):5'- CCCAAAAGAGCTGATACATTGACTG -3'

Sequencing Primer
(F):5'- CCGGGTATCTTCAATCTCGTCAAAAG -3'
(R):5'- ACTGAGGAGATTTTAAGTTCTGTCAG -3'

Posted On

2019-05-15