Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Crybg1'

167011

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43998416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 899 (S899P)

Ref Sequence

ENSEMBL: ENSMUSP00000143429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020017] [ENSMUST00000200401]

AlphaFold

A0A0G2JG52

Predicted Effect

probably damaging
Transcript: ENSMUST00000020017
AA Change: S525P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S525P

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	114	121	N/A	INTRINSIC
low complexity region	176	192	N/A	INTRINSIC
low complexity region	436	453	N/A	INTRINSIC
low complexity region	507	518	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	837	857	N/A	INTRINSIC
XTALbg	995	1078	8.57e-9	SMART
XTALbg	1094	1175	4.73e-20	SMART
XTALbg	1189	1282	1.23e-32	SMART
XTALbg	1290	1373	9.3e-28	SMART
XTALbg	1386	1465	1.66e-24	SMART
XTALbg	1473	1553	5.29e-32	SMART
RICIN	1556	1689	5.86e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200401
AA Change: S899P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S899P

Domain	Start	End	E-Value	Type
low complexity region	377	390	N/A	INTRINSIC
low complexity region	488	495	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC
low complexity region	810	827	N/A	INTRINSIC
low complexity region	881	892	N/A	INTRINSIC
low complexity region	918	931	N/A	INTRINSIC
low complexity region	1211	1231	N/A	INTRINSIC
XTALbg	1369	1452	5.4e-11	SMART
XTALbg	1468	1549	2.9e-22	SMART
XTALbg	1563	1656	7.9e-35	SMART
XTALbg	1664	1747	6e-30	SMART
XTALbg	1760	1839	1.1e-26	SMART
XTALbg	1847	1927	3.3e-34	SMART
RICIN	1930	2063	3.3e-17	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235 (GRCm38)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552 (GRCm38)	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728 (GRCm38)	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804 (GRCm38)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438 (GRCm38)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673 (GRCm38)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591 (GRCm38)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,397,354 (GRCm38)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,614,352 (GRCm38)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm38)	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781 (GRCm38)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558 (GRCm38)	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574 (GRCm38)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383 (GRCm38)	V115A	probably benign	Het
Ctdnep1	T	A	11: 69,988,635 (GRCm38)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842 (GRCm38)	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190 (GRCm38)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065 (GRCm38)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669 (GRCm38)		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473 (GRCm38)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,432,000 (GRCm38)	T241S	probably benign	Het
Eya1	G	T	1: 14,274,550 (GRCm38)	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022 (GRCm38)	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704 (GRCm38)	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160 (GRCm38)	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015 (GRCm38)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645 (GRCm38)	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812 (GRCm38)	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615 (GRCm38)	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306 (GRCm38)	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555 (GRCm38)	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350 (GRCm38)	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782 (GRCm38)	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591 (GRCm38)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886 (GRCm38)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173 (GRCm38)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741 (GRCm38)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811 (GRCm38)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747 (GRCm38)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558 (GRCm38)	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839 (GRCm38)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307 (GRCm38)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110 (GRCm38)		probably null	Het
Klhl9	A	G	4: 88,721,993 (GRCm38)	S4P	probably benign	Het
Klk10	A	G	7: 43,782,880 (GRCm38)	Q79R	probably benign	Het
Klk6	T	C	7: 43,829,275 (GRCm38)		probably null	Het
Lamc2	C	T	1: 153,166,263 (GRCm38)	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721 (GRCm38)	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739 (GRCm38)	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637 (GRCm38)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926 (GRCm38)	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610 (GRCm38)	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541 (GRCm38)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088 (GRCm38)		probably null	Het
Mmp23	T	C	4: 155,650,717 (GRCm38)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222 (GRCm38)	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205 (GRCm38)	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036 (GRCm38)	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172 (GRCm38)	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853 (GRCm38)	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451 (GRCm38)	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652 (GRCm38)	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432 (GRCm38)	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718 (GRCm38)	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784 (GRCm38)	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264 (GRCm38)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191 (GRCm38)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607 (GRCm38)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305 (GRCm38)	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575 (GRCm38)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319 (GRCm38)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558 (GRCm38)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500 (GRCm38)		probably null	Het
Pla2g4a	T	C	1: 149,857,686 (GRCm38)		probably null	Het
Pola2	A	T	19: 5,948,406 (GRCm38)	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833 (GRCm38)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886 (GRCm38)	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635 (GRCm38)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446 (GRCm38)	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613 (GRCm38)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858 (GRCm38)		probably null	Het
Rpp30	A	G	19: 36,094,385 (GRCm38)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm38)	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292 (GRCm38)		probably null	Het
Sept12	T	C	16: 4,996,476 (GRCm38)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,008,488 (GRCm38)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,750,677 (GRCm38)	K27R	probably damaging	Het
Spata17	T	A	1: 187,193,994 (GRCm38)	K46N	probably damaging	Het
St14	A	C	9: 31,108,215 (GRCm38)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347 (GRCm38)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410 (GRCm38)	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056 (GRCm38)	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270 (GRCm38)	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501 (GRCm38)	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479 (GRCm38)	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106 (GRCm38)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825 (GRCm38)	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503 (GRCm38)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465 (GRCm38)	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221 (GRCm38)	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889 (GRCm38)	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167 (GRCm38)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422 (GRCm38)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863 (GRCm38)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186 (GRCm38)	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934 (GRCm38)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078 (GRCm38)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268 (GRCm38)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919 (GRCm38)	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861 (GRCm38)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025 (GRCm38)	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785 (GRCm38)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563 (GRCm38)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775 (GRCm38)		probably null	Het
Zfp668	C	T	7: 127,867,080 (GRCm38)	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302 (GRCm38)	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832 (GRCm38)	M287K	probably benign	Het

Other mutations in Crybg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Crybg1	APN	10	43,992,509 (GRCm38)	missense	probably damaging	1.00
IGL00502:Crybg1	APN	10	43,958,313 (GRCm38)	missense	probably damaging	1.00
IGL00848:Crybg1	APN	10	43,967,818 (GRCm38)	splice site	probably null
IGL01287:Crybg1	APN	10	43,992,494 (GRCm38)	missense	possibly damaging	0.53
IGL01310:Crybg1	APN	10	44,003,600 (GRCm38)	missense	probably damaging	0.99
IGL01310:Crybg1	APN	10	43,975,058 (GRCm38)	missense	possibly damaging	0.95
IGL02683:Crybg1	APN	10	43,989,216 (GRCm38)	missense	possibly damaging	0.64
IGL03095:Crybg1	APN	10	43,989,249 (GRCm38)	missense	probably damaging	1.00
R0062:Crybg1	UTSW	10	43,997,906 (GRCm38)	missense	probably damaging	0.98
R0142:Crybg1	UTSW	10	43,999,063 (GRCm38)	missense	possibly damaging	0.83
R0294:Crybg1	UTSW	10	43,986,376 (GRCm38)	missense	probably damaging	1.00
R0539:Crybg1	UTSW	10	43,998,898 (GRCm38)	missense	probably benign	0.03
R0781:Crybg1	UTSW	10	43,999,093 (GRCm38)	missense	possibly damaging	0.95
R1110:Crybg1	UTSW	10	43,999,093 (GRCm38)	missense	possibly damaging	0.95
R1189:Crybg1	UTSW	10	43,998,794 (GRCm38)	missense	probably damaging	1.00
R1428:Crybg1	UTSW	10	43,975,078 (GRCm38)	missense	probably benign	0.33
R1688:Crybg1	UTSW	10	43,973,798 (GRCm38)	missense	probably damaging	1.00
R1728:Crybg1	UTSW	10	44,004,019 (GRCm38)	missense	probably damaging	0.97
R1756:Crybg1	UTSW	10	43,986,279 (GRCm38)	missense	probably damaging	1.00
R1773:Crybg1	UTSW	10	43,992,548 (GRCm38)	missense	possibly damaging	0.91
R1784:Crybg1	UTSW	10	44,004,019 (GRCm38)	missense	probably damaging	0.97
R1850:Crybg1	UTSW	10	43,997,674 (GRCm38)	missense	probably damaging	1.00
R1911:Crybg1	UTSW	10	43,997,677 (GRCm38)	missense	possibly damaging	0.47
R1920:Crybg1	UTSW	10	43,997,548 (GRCm38)	missense	probably damaging	1.00
R1964:Crybg1	UTSW	10	43,958,330 (GRCm38)	missense	probably damaging	1.00
R2298:Crybg1	UTSW	10	43,999,222 (GRCm38)	missense	probably damaging	1.00
R3617:Crybg1	UTSW	10	43,956,786 (GRCm38)	missense	possibly damaging	0.82
R3913:Crybg1	UTSW	10	43,998,763 (GRCm38)	missense	possibly damaging	0.95
R4081:Crybg1	UTSW	10	43,975,039 (GRCm38)	missense	probably damaging	1.00
R4116:Crybg1	UTSW	10	43,999,162 (GRCm38)	missense	possibly damaging	0.91
R4409:Crybg1	UTSW	10	43,998,758 (GRCm38)	missense	possibly damaging	0.94
R4583:Crybg1	UTSW	10	43,997,620 (GRCm38)	missense	probably damaging	1.00
R4721:Crybg1	UTSW	10	43,997,887 (GRCm38)	missense	probably damaging	1.00
R4818:Crybg1	UTSW	10	43,998,587 (GRCm38)	missense	probably benign	0.00
R4859:Crybg1	UTSW	10	43,992,569 (GRCm38)	missense	probably damaging	1.00
R4933:Crybg1	UTSW	10	43,999,213 (GRCm38)	missense	probably damaging	1.00
R5028:Crybg1	UTSW	10	43,998,212 (GRCm38)	missense	possibly damaging	0.74
R5057:Crybg1	UTSW	10	43,989,108 (GRCm38)	nonsense	probably null
R5102:Crybg1	UTSW	10	43,997,836 (GRCm38)	missense	probably damaging	1.00
R5103:Crybg1	UTSW	10	43,997,948 (GRCm38)	missense	probably damaging	1.00
R5137:Crybg1	UTSW	10	43,958,336 (GRCm38)	missense	probably damaging	1.00
R5212:Crybg1	UTSW	10	43,967,743 (GRCm38)	missense	possibly damaging	0.95
R5307:Crybg1	UTSW	10	44,003,714 (GRCm38)	missense	probably benign	0.00
R5353:Crybg1	UTSW	10	43,973,665 (GRCm38)	missense	probably damaging	1.00
R5463:Crybg1	UTSW	10	44,003,693 (GRCm38)	nonsense	probably null
R5503:Crybg1	UTSW	10	43,998,766 (GRCm38)	missense	probably benign	0.00
R5583:Crybg1	UTSW	10	44,003,510 (GRCm38)	missense	probably benign	0.01
R5835:Crybg1	UTSW	10	43,975,133 (GRCm38)	missense	probably benign	0.28
R6021:Crybg1	UTSW	10	43,997,538 (GRCm38)	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43,956,760 (GRCm38)	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43,956,760 (GRCm38)	missense	probably damaging	1.00
R6277:Crybg1	UTSW	10	43,997,259 (GRCm38)	missense	probably benign	0.03
R6338:Crybg1	UTSW	10	43,992,509 (GRCm38)	missense	probably damaging	1.00
R6348:Crybg1	UTSW	10	44,003,951 (GRCm38)	missense	probably damaging	1.00
R6514:Crybg1	UTSW	10	43,997,215 (GRCm38)	missense	probably damaging	1.00
R6785:Crybg1	UTSW	10	43,999,171 (GRCm38)	missense	probably benign	0.00
R6804:Crybg1	UTSW	10	43,966,341 (GRCm38)	missense	probably damaging	1.00
R6938:Crybg1	UTSW	10	43,997,383 (GRCm38)	missense	probably benign	0.01
R6983:Crybg1	UTSW	10	43,999,342 (GRCm38)	missense	probably damaging	1.00
R7002:Crybg1	UTSW	10	43,998,835 (GRCm38)	missense	probably damaging	1.00
R7153:Crybg1	UTSW	10	43,964,666 (GRCm38)	missense	possibly damaging	0.64
R7271:Crybg1	UTSW	10	43,997,623 (GRCm38)	nonsense	probably null
R7293:Crybg1	UTSW	10	44,003,432 (GRCm38)	missense	probably damaging	1.00
R7304:Crybg1	UTSW	10	43,997,258 (GRCm38)	missense	probably benign	0.05
R7313:Crybg1	UTSW	10	43,989,111 (GRCm38)	missense	probably damaging	0.98
R7373:Crybg1	UTSW	10	44,004,140 (GRCm38)	missense	probably benign	0.00
R7449:Crybg1	UTSW	10	44,004,519 (GRCm38)	missense	probably benign
R7530:Crybg1	UTSW	10	43,999,073 (GRCm38)	missense	possibly damaging	0.62
R7660:Crybg1	UTSW	10	43,998,835 (GRCm38)	missense	probably damaging	0.97
R7701:Crybg1	UTSW	10	43,989,143 (GRCm38)	missense	probably benign	0.06
R8181:Crybg1	UTSW	10	43,986,326 (GRCm38)	missense	probably damaging	0.98
R8237:Crybg1	UTSW	10	43,966,380 (GRCm38)	nonsense	probably null
R8359:Crybg1	UTSW	10	43,992,542 (GRCm38)	missense	probably benign	0.03
R8751:Crybg1	UTSW	10	44,004,842 (GRCm38)	missense	probably benign	0.04
R8809:Crybg1	UTSW	10	44,003,432 (GRCm38)	missense	probably damaging	1.00
R9017:Crybg1	UTSW	10	44,004,481 (GRCm38)	missense	probably benign	0.00
R9069:Crybg1	UTSW	10	43,998,107 (GRCm38)	missense	probably benign	0.30
R9099:Crybg1	UTSW	10	43,998,848 (GRCm38)	missense	probably benign	0.01
R9118:Crybg1	UTSW	10	44,003,929 (GRCm38)	missense	possibly damaging	0.56
R9185:Crybg1	UTSW	10	44,004,095 (GRCm38)	missense	probably benign	0.04
R9486:Crybg1	UTSW	10	44,004,149 (GRCm38)	start gained	probably benign
R9561:Crybg1	UTSW	10	43,997,432 (GRCm38)	missense	probably benign	0.00
RF005:Crybg1	UTSW	10	44,004,745 (GRCm38)	missense	probably benign	0.03
RF024:Crybg1	UTSW	10	44,004,745 (GRCm38)	missense	probably benign	0.03
X0065:Crybg1	UTSW	10	43,992,526 (GRCm38)	synonymous	silent
Z1088:Crybg1	UTSW	10	43,997,311 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGAGACTGTGCCACATGTCCTTC -3'
(R):5'- TCAAGTTCCCATATGCAGTGTTCCC -3'

Sequencing Primer
(F):5'- ACATGTCCTTCTCTGTGATGG -3'
(R):5'- CTGCACTGCTCTAGAAGTGTC -3'

Posted On

2014-04-13