Mutagenetix > Incidental Mutation

Incidental Mutation 'R5353:Crybg1'

423919

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

042932-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43849661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1705 (S1705G)

Ref Sequence

ENSEMBL: ENSMUSP00000143429 (fasta)

Gene Model

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

AlphaFold

A0A0G2JG52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020017
AA Change: S1331G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S1331G

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: S1705G

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

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S1705G

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

0.3962

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,934,470 (GRCm39)	S649P	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts1	T	A	16: 85,599,496 (GRCm39)	M35L	probably benign	Het
Adgrg3	A	T	8: 95,762,556 (GRCm39)	H202L	probably damaging	Het
Anln	G	T	9: 22,271,813 (GRCm39)	R681S	probably damaging	Het
Aprt	A	T	8: 123,302,147 (GRCm39)	M1K	probably null	Het
Arid3b	G	T	9: 57,702,320 (GRCm39)		probably null	Het
Cbl	A	G	9: 44,084,620 (GRCm39)	F172L	probably damaging	Het
Cd109	G	T	9: 78,617,521 (GRCm39)	V1340L	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chrm3	A	G	13: 9,928,593 (GRCm39)	Y148H	probably damaging	Het
Cog7	A	C	7: 121,540,470 (GRCm39)		probably null	Het
Cpsf1	A	T	15: 76,486,771 (GRCm39)	I255N	probably damaging	Het
Crebzf	G	A	7: 90,092,622 (GRCm39)	G134R	probably damaging	Het
Dock6	A	T	9: 21,726,082 (GRCm39)	H1409Q	probably benign	Het
Fank1	A	G	7: 133,478,632 (GRCm39)	D232G	probably damaging	Het
Fat1	G	T	8: 45,489,168 (GRCm39)	V3480L	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	T	1: 174,330,572 (GRCm39)	G321W	unknown	Het
Greb1	A	T	12: 16,738,567 (GRCm39)	Y1465*	probably null	Het
Hdac9	G	A	12: 34,443,392 (GRCm39)	Q330*	probably null	Het
Kcnt2	C	T	1: 140,354,639 (GRCm39)	T298I	probably damaging	Het
Knl1	A	G	2: 118,901,464 (GRCm39)	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,946,660 (GRCm39)	S487P	probably damaging	Het
Naa38	G	A	11: 69,287,408 (GRCm39)	V110I	probably benign	Het
Nkd2	T	C	13: 73,969,557 (GRCm39)	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125 (GRCm38)	C49R	probably benign	Het
Or4c111	A	G	2: 88,844,099 (GRCm39)	V103A	probably benign	Het
Or52b2	A	G	7: 104,986,324 (GRCm39)	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,393,631 (GRCm39)	E165V	probably damaging	Het
Phyh	A	T	2: 4,947,012 (GRCm39)		probably benign	Het
Pik3r4	G	A	9: 105,545,137 (GRCm39)		probably null	Het
Ppip5k1	A	C	2: 121,142,201 (GRCm39)	V1416G	probably benign	Het
Ppm1b	T	C	17: 85,301,537 (GRCm39)	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,097,077 (GRCm39)		probably null	Het
Pramel20	A	G	4: 143,297,807 (GRCm39)	T76A	probably benign	Het
Psmc5	G	T	11: 106,152,327 (GRCm39)	A115S	probably damaging	Het
Ptpn5	T	A	7: 46,731,642 (GRCm39)	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235 (GRCm38)		probably benign	Het
Qrich1	G	T	9: 108,422,164 (GRCm39)	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,385,741 (GRCm39)	I175V	probably benign	Het
Selenot	T	C	3: 58,493,387 (GRCm39)	F88S	possibly damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spred2	A	G	11: 19,968,155 (GRCm39)	D208G	possibly damaging	Het
Surf1	T	C	2: 26,804,204 (GRCm39)	T197A	probably benign	Het
Taco1	G	A	11: 105,963,539 (GRCm39)		probably null	Het
Tas2r109	A	G	6: 132,957,594 (GRCm39)	V112A	possibly damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Uggt2	A	G	14: 119,319,182 (GRCm39)	I280T	probably benign	Het
Yipf2	A	G	9: 21,503,228 (GRCm39)	Y80H	possibly damaging	Het
Zscan12	T	C	13: 21,548,178 (GRCm39)	V120A	possibly 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
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
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

PCR Primer
(F):5'- ATGACACCAAGAGCCTGCTC -3'
(R):5'- AGCGGCTACCCTTTACACTTG -3'

Sequencing Primer
(F):5'- AAGAGCCTGCTCCAATGGG -3'
(R):5'- GGCTACCCTTTACACTTGAATCTC -3'

Posted On

2016-08-04