Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Crybg1'

194870

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43986279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1500 (T1500S)

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: T1126S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: T1126S

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: T1500S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: T1500S

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

Meta Mutation Damage Score

0.5010

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061 (GRCm38)	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882 (GRCm38)		noncoding transcript	Het
Acin1	A	G	14: 54,665,204 (GRCm38)	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324 (GRCm38)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697 (GRCm38)	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574 (GRCm38)	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692 (GRCm38)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471 (GRCm38)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392 (GRCm38)	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013 (GRCm38)	I53R	probably benign	Het
Ccdc105	T	A	10: 78,747,197 (GRCm38)	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468 (GRCm38)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788 (GRCm38)	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597 (GRCm38)	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761 (GRCm38)	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267 (GRCm38)	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954 (GRCm38)	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061 (GRCm38)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877 (GRCm38)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214 (GRCm38)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109 (GRCm38)	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452 (GRCm38)	P153S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524 (GRCm38)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605 (GRCm38)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309 (GRCm38)	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573 (GRCm38)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103 (GRCm38)	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380 (GRCm38)	S344A	probably benign	Het
Dner	C	T	1: 84,445,590 (GRCm38)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695 (GRCm38)		probably null	Het
Eps15	T	G	4: 109,312,918 (GRCm38)	L139*	probably null	Het
Fam193a	T	A	5: 34,466,292 (GRCm38)	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957 (GRCm38)	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855 (GRCm38)	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218 (GRCm38)	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239 (GRCm38)		probably benign	Het
Gpr155	T	C	2: 73,367,577 (GRCm38)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123 (GRCm38)		probably benign	Het
Heatr1	G	T	13: 12,396,460 (GRCm38)	A61S	probably benign	Het
Helb	G	T	10: 120,094,242 (GRCm38)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030 (GRCm38)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120 (GRCm38)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461 (GRCm38)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669 (GRCm38)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220 (GRCm38)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621 (GRCm38)	K97N	unknown	Het
Lcor	T	C	19: 41,559,266 (GRCm38)	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540 (GRCm38)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825 (GRCm38)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730 (GRCm38)		probably benign	Het
Man1c1	G	C	4: 134,703,438 (GRCm38)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877 (GRCm38)	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131 (GRCm38)	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551 (GRCm38)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534 (GRCm38)	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670 (GRCm38)		probably benign	Het
Olfr1008	A	G	2: 85,690,083 (GRCm38)	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695 (GRCm38)	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995 (GRCm38)	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821 (GRCm38)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750 (GRCm38)	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485 (GRCm38)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727 (GRCm38)	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708 (GRCm38)	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392 (GRCm38)		probably null	Het
Plek	A	T	11: 16,992,901 (GRCm38)	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704 (GRCm38)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803 (GRCm38)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266 (GRCm38)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830 (GRCm38)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881 (GRCm38)	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763 (GRCm38)		probably benign	Het
Shf	G	A	2: 122,368,682 (GRCm38)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552 (GRCm38)	M574I	probably benign	Het
Slk	T	C	19: 47,622,677 (GRCm38)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971 (GRCm38)	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125 (GRCm38)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980 (GRCm38)	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531 (GRCm38)	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113 (GRCm38)		probably null	Het
Tenm2	C	T	11: 36,063,177 (GRCm38)	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166 (GRCm38)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179 (GRCm38)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322 (GRCm38)	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725 (GRCm38)		probably null	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800 (GRCm38)	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226 (GRCm38)	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334 (GRCm38)		probably benign	Het
Unc80	A	G	1: 66,639,248 (GRCm38)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655 (GRCm38)	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681 (GRCm38)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298 (GRCm38)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424 (GRCm38)	T205A	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
R1521:Crybg1	UTSW	10	43,998,416 (GRCm38)	missense	probably damaging	1.00
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
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'- ACACCATGAGTGTATAAGGCACTGC -3'
(R):5'- GTTTGTAACTCTCATTCCACCACCAGG -3'

Sequencing Primer
(F):5'- agcacaagaaacggggag -3'
(R):5'- AGTGATACATGCAGGCACTC -3'

Posted On

2014-05-23