Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Crybg1'

480457

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43832756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2000 (S2000P)

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: S1626P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S1626P

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: S2000P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S2000P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214220

Meta Mutation Damage Score

0.7904

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.0%
20x: 85.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Ifnlr1	A	G	4: 135,432,937 (GRCm39)	K458E	probably benign	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	Het

Other mutations in Crybg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Crybg1	APN	10	43,868,505 (GRCm39)	missense	probably damaging	1.00
IGL00502:Crybg1	APN	10	43,834,309 (GRCm39)	missense	probably damaging	1.00
IGL00848:Crybg1	APN	10	43,843,814 (GRCm39)	splice site	probably null
IGL01287:Crybg1	APN	10	43,868,490 (GRCm39)	missense	possibly damaging	0.53
IGL01310:Crybg1	APN	10	43,879,596 (GRCm39)	missense	probably damaging	0.99
IGL01310:Crybg1	APN	10	43,851,054 (GRCm39)	missense	possibly damaging	0.95
IGL02683:Crybg1	APN	10	43,865,212 (GRCm39)	missense	possibly damaging	0.64
IGL03095:Crybg1	APN	10	43,865,245 (GRCm39)	missense	probably damaging	1.00
R0062:Crybg1	UTSW	10	43,873,902 (GRCm39)	missense	probably damaging	0.98
R0142:Crybg1	UTSW	10	43,875,059 (GRCm39)	missense	possibly damaging	0.83
R0294:Crybg1	UTSW	10	43,862,372 (GRCm39)	missense	probably damaging	1.00
R0539:Crybg1	UTSW	10	43,874,894 (GRCm39)	missense	probably benign	0.03
R0781:Crybg1	UTSW	10	43,875,089 (GRCm39)	missense	possibly damaging	0.95
R1110:Crybg1	UTSW	10	43,875,089 (GRCm39)	missense	possibly damaging	0.95
R1189:Crybg1	UTSW	10	43,874,790 (GRCm39)	missense	probably damaging	1.00
R1428:Crybg1	UTSW	10	43,851,074 (GRCm39)	missense	probably benign	0.33
R1521:Crybg1	UTSW	10	43,874,412 (GRCm39)	missense	probably damaging	1.00
R1688:Crybg1	UTSW	10	43,849,794 (GRCm39)	missense	probably damaging	1.00
R1728:Crybg1	UTSW	10	43,880,015 (GRCm39)	missense	probably damaging	0.97
R1756:Crybg1	UTSW	10	43,862,275 (GRCm39)	missense	probably damaging	1.00
R1773:Crybg1	UTSW	10	43,868,544 (GRCm39)	missense	possibly damaging	0.91
R1784:Crybg1	UTSW	10	43,880,015 (GRCm39)	missense	probably damaging	0.97
R1850:Crybg1	UTSW	10	43,873,670 (GRCm39)	missense	probably damaging	1.00
R1911:Crybg1	UTSW	10	43,873,673 (GRCm39)	missense	possibly damaging	0.47
R1920:Crybg1	UTSW	10	43,873,544 (GRCm39)	missense	probably damaging	1.00
R1964:Crybg1	UTSW	10	43,834,326 (GRCm39)	missense	probably damaging	1.00
R2298:Crybg1	UTSW	10	43,875,218 (GRCm39)	missense	probably damaging	1.00
R3617:Crybg1	UTSW	10	43,832,782 (GRCm39)	missense	possibly damaging	0.82
R3913:Crybg1	UTSW	10	43,874,759 (GRCm39)	missense	possibly damaging	0.95
R4081:Crybg1	UTSW	10	43,851,035 (GRCm39)	missense	probably damaging	1.00
R4116:Crybg1	UTSW	10	43,875,158 (GRCm39)	missense	possibly damaging	0.91
R4409:Crybg1	UTSW	10	43,874,754 (GRCm39)	missense	possibly damaging	0.94
R4583:Crybg1	UTSW	10	43,873,616 (GRCm39)	missense	probably damaging	1.00
R4721:Crybg1	UTSW	10	43,873,883 (GRCm39)	missense	probably damaging	1.00
R4818:Crybg1	UTSW	10	43,874,583 (GRCm39)	missense	probably benign	0.00
R4859:Crybg1	UTSW	10	43,868,565 (GRCm39)	missense	probably damaging	1.00
R4933:Crybg1	UTSW	10	43,875,209 (GRCm39)	missense	probably damaging	1.00
R5028:Crybg1	UTSW	10	43,874,208 (GRCm39)	missense	possibly damaging	0.74
R5057:Crybg1	UTSW	10	43,865,104 (GRCm39)	nonsense	probably null
R5102:Crybg1	UTSW	10	43,873,832 (GRCm39)	missense	probably damaging	1.00
R5103:Crybg1	UTSW	10	43,873,944 (GRCm39)	missense	probably damaging	1.00
R5137:Crybg1	UTSW	10	43,834,332 (GRCm39)	missense	probably damaging	1.00
R5212:Crybg1	UTSW	10	43,843,739 (GRCm39)	missense	possibly damaging	0.95
R5307:Crybg1	UTSW	10	43,879,710 (GRCm39)	missense	probably benign	0.00
R5353:Crybg1	UTSW	10	43,849,661 (GRCm39)	missense	probably damaging	1.00
R5463:Crybg1	UTSW	10	43,879,689 (GRCm39)	nonsense	probably null
R5503:Crybg1	UTSW	10	43,874,762 (GRCm39)	missense	probably benign	0.00
R5583:Crybg1	UTSW	10	43,879,506 (GRCm39)	missense	probably benign	0.01
R5835:Crybg1	UTSW	10	43,851,129 (GRCm39)	missense	probably benign	0.28
R6021:Crybg1	UTSW	10	43,873,534 (GRCm39)	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43,832,756 (GRCm39)	missense	probably damaging	1.00
R6277:Crybg1	UTSW	10	43,873,255 (GRCm39)	missense	probably benign	0.03
R6338:Crybg1	UTSW	10	43,868,505 (GRCm39)	missense	probably damaging	1.00
R6348:Crybg1	UTSW	10	43,879,947 (GRCm39)	missense	probably damaging	1.00
R6514:Crybg1	UTSW	10	43,873,211 (GRCm39)	missense	probably damaging	1.00
R6785:Crybg1	UTSW	10	43,875,167 (GRCm39)	missense	probably benign	0.00
R6804:Crybg1	UTSW	10	43,842,337 (GRCm39)	missense	probably damaging	1.00
R6938:Crybg1	UTSW	10	43,873,379 (GRCm39)	missense	probably benign	0.01
R6983:Crybg1	UTSW	10	43,875,338 (GRCm39)	missense	probably damaging	1.00
R7002:Crybg1	UTSW	10	43,874,831 (GRCm39)	missense	probably damaging	1.00
R7153:Crybg1	UTSW	10	43,840,662 (GRCm39)	missense	possibly damaging	0.64
R7271:Crybg1	UTSW	10	43,873,619 (GRCm39)	nonsense	probably null
R7293:Crybg1	UTSW	10	43,879,428 (GRCm39)	missense	probably damaging	1.00
R7304:Crybg1	UTSW	10	43,873,254 (GRCm39)	missense	probably benign	0.05
R7313:Crybg1	UTSW	10	43,865,107 (GRCm39)	missense	probably damaging	0.98
R7373:Crybg1	UTSW	10	43,880,136 (GRCm39)	missense	probably benign	0.00
R7449:Crybg1	UTSW	10	43,880,515 (GRCm39)	missense	probably benign
R7530:Crybg1	UTSW	10	43,875,069 (GRCm39)	missense	possibly damaging	0.62
R7660:Crybg1	UTSW	10	43,874,831 (GRCm39)	missense	probably damaging	0.97
R7701:Crybg1	UTSW	10	43,865,139 (GRCm39)	missense	probably benign	0.06
R8181:Crybg1	UTSW	10	43,862,322 (GRCm39)	missense	probably damaging	0.98
R8237:Crybg1	UTSW	10	43,842,376 (GRCm39)	nonsense	probably null
R8359:Crybg1	UTSW	10	43,868,538 (GRCm39)	missense	probably benign	0.03
R8751:Crybg1	UTSW	10	43,880,838 (GRCm39)	missense	probably benign	0.04
R8809:Crybg1	UTSW	10	43,879,428 (GRCm39)	missense	probably damaging	1.00
R9017:Crybg1	UTSW	10	43,880,477 (GRCm39)	missense	probably benign	0.00
R9069:Crybg1	UTSW	10	43,874,103 (GRCm39)	missense	probably benign	0.30
R9099:Crybg1	UTSW	10	43,874,844 (GRCm39)	missense	probably benign	0.01
R9118:Crybg1	UTSW	10	43,879,925 (GRCm39)	missense	possibly damaging	0.56
R9185:Crybg1	UTSW	10	43,880,091 (GRCm39)	missense	probably benign	0.04
R9486:Crybg1	UTSW	10	43,880,145 (GRCm39)	start gained	probably benign
R9561:Crybg1	UTSW	10	43,873,428 (GRCm39)	missense	probably benign	0.00
RF005:Crybg1	UTSW	10	43,880,741 (GRCm39)	missense	probably benign	0.03
RF024:Crybg1	UTSW	10	43,880,741 (GRCm39)	missense	probably benign	0.03
X0065:Crybg1	UTSW	10	43,868,522 (GRCm39)	synonymous	silent
Z1088:Crybg1	UTSW	10	43,873,307 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2017-06-26