Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Crybg1'

49717

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

038731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0539 (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 43874894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 738 (D738G)

Ref Sequence

ENSEMBL: ENSMUSP00000143429 (fasta)

Gene Model

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

AlphaFold

A0A0G2JG52

Predicted Effect

probably benign
Transcript: ENSMUST00000020017
AA Change: D364G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: D364G

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 benign
Transcript: ENSMUST00000200401
AA Change: D738G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: D738G

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

0.0701

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,536,692 (GRCm39)	H129Q	probably damaging	Het
Abca14	G	A	7: 119,807,020 (GRCm39)	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,976,503 (GRCm39)	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208 (GRCm39)	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,665,580 (GRCm39)	G574S	probably damaging	Het
Adgrg5	T	A	8: 95,665,260 (GRCm39)	N389K	probably damaging	Het
Ankk1	A	G	9: 49,329,330 (GRCm39)	V80A	probably benign	Het
Arhgap20	A	G	9: 51,761,455 (GRCm39)	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,919,610 (GRCm39)	K32*	probably null	Het
AW209491	T	C	13: 14,812,317 (GRCm39)	F390S	probably damaging	Het
Axl	A	T	7: 25,478,142 (GRCm39)		probably benign	Het
Bri3bp	A	G	5: 125,531,603 (GRCm39)	Y183C	probably damaging	Het
Cad	T	C	5: 31,232,801 (GRCm39)		probably benign	Het
Capns2	A	G	8: 93,628,360 (GRCm39)	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010 (GRCm39)	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,852,892 (GRCm39)	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,500,641 (GRCm39)	V166A	possibly damaging	Het
Clmp	A	G	9: 40,693,782 (GRCm39)	Y333C	probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,199,792 (GRCm39)	Y69C	probably damaging	Het
Ctnna2	T	A	6: 76,950,882 (GRCm39)	I165F	probably damaging	Het
Dcaf7	T	G	11: 105,942,652 (GRCm39)	S200A	probably damaging	Het
Deup1	T	A	9: 15,493,893 (GRCm39)	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,990,497 (GRCm39)		probably benign	Het
Dnaaf11	A	T	15: 66,319,455 (GRCm39)	V305D	probably damaging	Het
Dnase2b	A	T	3: 146,294,910 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,383,287 (GRCm39)	Y931C	probably damaging	Het
Fam83h	T	C	15: 75,875,076 (GRCm39)	S754G	possibly damaging	Het
Fibp	T	A	19: 5,513,216 (GRCm39)	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,723,725 (GRCm39)	I571T	probably damaging	Het
Grm7	T	G	6: 111,336,055 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,745 (GRCm39)	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,343,033 (GRCm39)		probably benign	Het
H4c3	A	G	13: 23,882,131 (GRCm39)	F101S	probably damaging	Het
Hydin	A	G	8: 111,249,704 (GRCm39)	I2216V	probably benign	Het
Ipo8	A	G	6: 148,719,606 (GRCm39)	M113T	probably benign	Het
Kdm6a	A	G	X: 18,128,664 (GRCm39)	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,078,229 (GRCm39)	E117K	probably damaging	Het
Lin7b	A	G	7: 45,019,326 (GRCm39)		probably benign	Het
Lipn	G	A	19: 34,062,003 (GRCm39)		probably benign	Het
Lrfn2	C	A	17: 49,378,072 (GRCm39)	N384K	probably damaging	Het
Map1b	T	C	13: 99,570,526 (GRCm39)	K732E	unknown	Het
Mpl	A	G	4: 118,300,705 (GRCm39)	M541T	possibly damaging	Het
Mprip	T	C	11: 59,631,943 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,274,937 (GRCm39)		probably benign	Het
Ms4a13	T	C	19: 11,149,235 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 112,871,734 (GRCm39)	R2116S	probably damaging	Het
Nav2	A	G	7: 49,111,686 (GRCm39)	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,257,617 (GRCm39)	A642D	probably benign	Het
Ndufs7	T	A	10: 80,090,665 (GRCm39)		probably benign	Het
Nfkbiz	G	A	16: 55,638,242 (GRCm39)	T406M	probably benign	Het
Nr4a1	A	G	15: 101,168,765 (GRCm39)	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,543,434 (GRCm39)	F1103V	probably damaging	Het
Or10ab4	C	T	7: 107,655,029 (GRCm39)	T280I	probably damaging	Het
Or10d3	A	T	9: 39,461,593 (GRCm39)	D191E	probably damaging	Het
Or1e22	T	C	11: 73,376,889 (GRCm39)	T254A	probably benign	Het
Or5a3	C	T	19: 12,400,173 (GRCm39)	L167F	probably damaging	Het
Or5g27	T	A	2: 85,410,119 (GRCm39)	C179S	probably damaging	Het
Or5m11	G	T	2: 85,782,353 (GRCm39)	M315I	probably benign	Het
Or8u9	A	T	2: 86,001,387 (GRCm39)	M258K	probably damaging	Het
Phf1	A	G	17: 27,153,432 (GRCm39)		probably null	Het
Pip	C	T	6: 41,826,819 (GRCm39)	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,008,989 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,363,906 (GRCm39)		probably null	Het
Psph	T	A	5: 129,843,641 (GRCm39)		probably benign	Het
Ptch1	C	T	13: 63,691,294 (GRCm39)		probably benign	Het
Ptprs	C	T	17: 56,765,255 (GRCm39)	V10M	probably damaging	Het
Rarg	T	C	15: 102,147,312 (GRCm39)	R358G	probably damaging	Het
Rbl2	T	C	8: 91,839,133 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,782,462 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,131,765 (GRCm39)	D256E	possibly damaging	Het
Scn8a	T	C	15: 100,914,449 (GRCm39)	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,254,155 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,289,964 (GRCm39)	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,568,129 (GRCm39)	I519V	probably benign	Het
Slc30a9	C	T	5: 67,491,953 (GRCm39)	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,069,001 (GRCm39)	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558 (GRCm39)	K466N	probably benign	Het
Snx16	T	C	3: 10,491,278 (GRCm39)	E209G	probably damaging	Het
Sp3	A	T	2: 72,800,876 (GRCm39)	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,345,620 (GRCm39)	V1202F	probably benign	Het
Stam2	A	T	2: 52,593,268 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,647,070 (GRCm39)	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,742,519 (GRCm39)	T49A	probably damaging	Het
Supt3	A	T	17: 45,314,018 (GRCm39)	I136F	possibly damaging	Het
Syne2	A	T	12: 76,070,895 (GRCm39)	R103S	possibly damaging	Het
Synj2	T	A	17: 6,047,163 (GRCm39)	M1K	probably null	Het
Tas2r110	T	C	6: 132,845,334 (GRCm39)	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,612,793 (GRCm39)	T110A	possibly damaging	Het
Tmem247	A	G	17: 87,224,906 (GRCm39)	D5G	probably benign	Het
Tmem39a	T	A	16: 38,411,337 (GRCm39)	F363I	probably benign	Het
Tmem80	G	A	7: 140,915,808 (GRCm39)	A73T	possibly damaging	Het
Trpm4	C	T	7: 44,954,896 (GRCm39)	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,092,840 (GRCm39)		probably benign	Het
Vmn1r120	A	T	7: 20,787,397 (GRCm39)	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,314,874 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,362 (GRCm39)	F700L	probably damaging	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het
Zbtb22	A	G	17: 34,137,118 (GRCm39)	D421G	possibly damaging	Het
Zbtb45	G	A	7: 12,740,260 (GRCm39)	R452C	probably damaging	Het
Zfhx3	T	C	8: 109,527,141 (GRCm39)	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,540,520 (GRCm39)		probably null	Het
Zfp532	T	A	18: 65,756,837 (GRCm39)	S257T	probably benign	Het
Zfp933	G	A	4: 147,911,005 (GRCm39)	T197I	probably benign	Het
Zgrf1	T	A	3: 127,408,841 (GRCm39)	N1649K	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
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
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'- TTGGGGAGCGTCCACAGAAATG -3'
(R):5'- TGTGTCAACCAGCCACCAGAATG -3'

Sequencing Primer
(F):5'- TCAGAAAATGCATCCTGTGGC -3'
(R):5'- ATGGCCTGGTGGTCAAAG -3'

Posted On

2013-06-12