Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Crybg3'

668958

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: 0.168) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59490775-59600979 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59554928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 274 (Y274H)

Ref Sequence

ENSEMBL: ENSMUSP00000037682 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044604
AA Change: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: Y274H

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 damaging
Transcript: ENSMUST00000172910
AA Change: Y1988H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	probably benign	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
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
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'- AATGCCTCACCCAGTTTACC -3'
(R):5'- CTTGCTTCGCATTTCAGGGG -3'

Sequencing Primer
(F):5'- CTTCTTTTTCAAAATGATGGACCAGG -3'
(R):5'- GGCTATGAGTCGCCTACATTAAG -3'

Posted On

2021-04-30