Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:Crybg3'

408650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

Accession Numbers

Essential gene?

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

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59375542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1904 (H1904L)

Ref Sequence

ENSEMBL: ENSMUSP00000156047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000139989] [ENSMUST00000172910]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044604
AA Change: H190L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: H190L

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

possibly damaging
Transcript: ENSMUST00000172910
AA Change: H1904L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
H2-T23	T	A	17: 36,343,249 (GRCm39)	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Or4c110	T	C	2: 88,832,459 (GRCm39)	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Ripk3	T	C	14: 56,024,796 (GRCm39)	D128G	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	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
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
R4394: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

Posted On

2016-08-02