Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Crybg3'

732540

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: 0.184) question?

Stock #

R9751 (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 T at 59557524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1122 (D1122E)

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: D1122E

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,011,740	I54M		Het
Abca4	A	G	3: 122,087,477	N514D	probably benign	Het
Adgre1	G	A	17: 57,450,101	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,025	V97I	probably damaging	Het
Bmper	C	T	9: 23,406,713	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,993,815	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,625,594	P553T	probably damaging	Het
Cachd1	G	A	4: 100,966,241	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,735,193	S191P	probably damaging	Het
Cd109	C	A	9: 78,698,160	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,457,650	L756P	probably damaging	Het
Csf2	A	T	11: 54,249,594	L6*	probably null	Het
Csnk1g2	T	A	10: 80,637,911	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,915,523	H116N	probably benign	Het
Dnah14	C	T	1: 181,792,045	S3978L	probably damaging	Het
Dpp8	C	T	9: 65,053,171	T328I	probably null	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Egf	C	A	3: 129,754,889	V26F	probably damaging	Het
Fam126a	C	T	5: 23,991,750	E47K	probably benign	Het
Fam20a	T	A	11: 109,675,166	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,987,897	I4658T	probably benign	Het
Gm11639	G	A	11: 104,893,085	G2754E	probably benign	Het
Gm21319	T	C	12: 87,773,756	N11S	possibly damaging	Het
Igflr1	A	T	7: 30,567,228	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Map3k6	A	G	4: 133,251,857		probably null	Het
Mcpt4	A	G	14: 56,060,054	I215T	probably damaging	Het
Med13	T	C	11: 86,299,158	Y975C	probably damaging	Het
Meioc	T	A	11: 102,675,593	Y678*	probably null	Het
Myof	T	C	19: 37,936,370	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,534,395		probably benign	Het
Ncapg	T	C	5: 45,693,853	V796A	probably damaging	Het
Olfr1167	T	A	2: 88,149,270	I250L	probably benign	Het
Olfr1168	T	A	2: 88,184,916	V13E	possibly damaging	Het
Olfr1224-ps1	C	T	2: 89,156,438	V246M	possibly damaging	Het
Olfr1257	C	T	2: 89,881,612	T262I	probably benign	Het
Olfr493	T	C	7: 108,346,438	Y181C	probably benign	Het
Paxbp1	A	G	16: 91,027,300	S515P	probably benign	Het
Plce1	C	T	19: 38,728,970	S1401F	probably damaging	Het
Rptor	A	G	11: 119,887,138	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,880,695	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,298,834	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tas2r115	A	G	6: 132,737,955	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 50,874,652	V351A	possibly damaging	Het
Tmem55b	A	G	14: 50,927,979	V257A	probably benign	Het
Trim43b	A	T	9: 89,089,517	D195E	probably benign	Het
Trim65	C	A	11: 116,130,738	A90S	probably benign	Het
Trip11	C	T	12: 101,884,506	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Ube2g2	G	A	10: 77,644,473	V138I	probably benign	Het
Wdr60	T	A	12: 116,241,783		probably null	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
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
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'- TCCTCAGTCAATGTATCAGCTC -3'
(R):5'- AGAGCACAGCTGTAAATTCACATG -3'

Sequencing Primer
(F):5'- GTATCAGCTCTTTTGGGTAAACC -3'
(R):5'- GCTGTAAATTCACATGATCTCCCAAG -3'

Posted On

2022-11-14