Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Crybg1'

73645

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44003600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 531 (S531P)

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: S157P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S157P

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

noncoding transcript
Transcript: ENSMUST00000099864

Predicted Effect

probably damaging
Transcript: ENSMUST00000200401
AA Change: S531P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S531P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	C	A	6: 50,574,195	V425L	probably benign	Het
4930431F12Rik	A	T	5: 44,967,814		noncoding transcript	Het
Abca12	A	T	1: 71,284,156	I1589N	probably benign	Het
Abca8a	T	G	11: 110,059,975	D888A	probably benign	Het
Adam5	C	T	8: 24,742,134		probably benign	Het
Amer1	A	T	X: 95,427,110	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,646,028	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,685,782	N751K	probably damaging	Het
Cfi	T	A	3: 129,858,431	N250K	probably damaging	Het
Cndp2	G	T	18: 84,670,877	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,512,875	D322G	probably benign	Het
Espnl	A	T	1: 91,340,611	K320*	probably null	Het
Glt1d1	A	G	5: 127,632,320	T13A	possibly damaging	Het
Gpam	C	T	19: 55,078,332	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,869,742	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,801	I572V	probably damaging	Het
Gtpbp4	A	T	13: 8,977,272	N502K	probably benign	Het
Herpud2	T	C	9: 25,150,951	M6V	probably benign	Het
Igdcc3	T	C	9: 65,178,442	V263A	probably damaging	Het
Il33	G	A	19: 29,952,756	A65T	probably benign	Het
Itga9	T	A	9: 118,769,159	M1K	probably null	Het
Izumo3	T	C	4: 92,146,980		probably benign	Het
Kdr	G	A	5: 75,949,601	P909S	probably damaging	Het
Kirrel	C	T	3: 87,089,875	E262K	probably benign	Het
Krt25	T	A	11: 99,318,170	Q278L	probably benign	Het
Lgi2	G	T	5: 52,554,465	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,699,338	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,317,249	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,059,474		probably null	Het
Nuf2	A	T	1: 169,498,862	V440E	probably benign	Het
Olfr1130	T	A	2: 87,607,508	I40N	possibly damaging	Het
Olfr1306	C	T	2: 111,912,307	V208M	probably benign	Het
Olfr615	C	T	7: 103,560,801	S108F	probably benign	Het
Olfr775	T	C	10: 129,250,996	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,428,610	D75G	probably damaging	Het
Pgm5	A	G	19: 24,834,766	V134A	possibly damaging	Het
Prkch	A	G	12: 73,759,013	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,783,625	E968V	probably benign	Het
Slc25a30	T	C	14: 75,769,597	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,401,345		probably null	Het
Tbc1d14	T	A	5: 36,543,200	K275*	probably null	Het
Tnc	T	C	4: 64,013,077	T799A	probably benign	Het
Trdn	A	T	10: 33,305,098		probably benign	Het
Ttn	T	C	2: 76,876,535		probably benign	Het
Uaca	T	C	9: 60,872,225	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,215,142	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,409,779		probably null	Het
Xpc	T	C	6: 91,490,107	K915E	probably benign	Het
Zfp318	T	C	17: 46,413,227	I2052T	possibly damaging	Het

Other mutations in Crybg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Crybg1	APN	10	43992509	missense	probably damaging	1.00
IGL00502:Crybg1	APN	10	43958313	missense	probably damaging	1.00
IGL00848:Crybg1	APN	10	43967818	splice site	probably null
IGL01287:Crybg1	APN	10	43992494	missense	possibly damaging	0.53
IGL01310:Crybg1	APN	10	43975058	missense	possibly damaging	0.95
IGL02683:Crybg1	APN	10	43989216	missense	possibly damaging	0.64
IGL03095:Crybg1	APN	10	43989249	missense	probably damaging	1.00
R0062:Crybg1	UTSW	10	43997906	missense	probably damaging	0.98
R0142:Crybg1	UTSW	10	43999063	missense	possibly damaging	0.83
R0294:Crybg1	UTSW	10	43986376	missense	probably damaging	1.00
R0539:Crybg1	UTSW	10	43998898	missense	probably benign	0.03
R0781:Crybg1	UTSW	10	43999093	missense	possibly damaging	0.95
R1110:Crybg1	UTSW	10	43999093	missense	possibly damaging	0.95
R1189:Crybg1	UTSW	10	43998794	missense	probably damaging	1.00
R1428:Crybg1	UTSW	10	43975078	missense	probably benign	0.33
R1521:Crybg1	UTSW	10	43998416	missense	probably damaging	1.00
R1688:Crybg1	UTSW	10	43973798	missense	probably damaging	1.00
R1728:Crybg1	UTSW	10	44004019	missense	probably damaging	0.97
R1756:Crybg1	UTSW	10	43986279	missense	probably damaging	1.00
R1773:Crybg1	UTSW	10	43992548	missense	possibly damaging	0.91
R1784:Crybg1	UTSW	10	44004019	missense	probably damaging	0.97
R1850:Crybg1	UTSW	10	43997674	missense	probably damaging	1.00
R1911:Crybg1	UTSW	10	43997677	missense	possibly damaging	0.47
R1920:Crybg1	UTSW	10	43997548	missense	probably damaging	1.00
R1964:Crybg1	UTSW	10	43958330	missense	probably damaging	1.00
R2298:Crybg1	UTSW	10	43999222	missense	probably damaging	1.00
R3617:Crybg1	UTSW	10	43956786	missense	possibly damaging	0.82
R3913:Crybg1	UTSW	10	43998763	missense	possibly damaging	0.95
R4081:Crybg1	UTSW	10	43975039	missense	probably damaging	1.00
R4116:Crybg1	UTSW	10	43999162	missense	possibly damaging	0.91
R4409:Crybg1	UTSW	10	43998758	missense	possibly damaging	0.94
R4583:Crybg1	UTSW	10	43997620	missense	probably damaging	1.00
R4721:Crybg1	UTSW	10	43997887	missense	probably damaging	1.00
R4818:Crybg1	UTSW	10	43998587	missense	probably benign	0.00
R4859:Crybg1	UTSW	10	43992569	missense	probably damaging	1.00
R4933:Crybg1	UTSW	10	43999213	missense	probably damaging	1.00
R5028:Crybg1	UTSW	10	43998212	missense	possibly damaging	0.74
R5057:Crybg1	UTSW	10	43989108	nonsense	probably null
R5102:Crybg1	UTSW	10	43997836	missense	probably damaging	1.00
R5103:Crybg1	UTSW	10	43997948	missense	probably damaging	1.00
R5137:Crybg1	UTSW	10	43958336	missense	probably damaging	1.00
R5212:Crybg1	UTSW	10	43967743	missense	possibly damaging	0.95
R5307:Crybg1	UTSW	10	44003714	missense	probably benign	0.00
R5353:Crybg1	UTSW	10	43973665	missense	probably damaging	1.00
R5463:Crybg1	UTSW	10	44003693	nonsense	probably null
R5503:Crybg1	UTSW	10	43998766	missense	probably benign	0.00
R5583:Crybg1	UTSW	10	44003510	missense	probably benign	0.01
R5835:Crybg1	UTSW	10	43975133	missense	probably benign	0.28
R6021:Crybg1	UTSW	10	43997538	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43956760	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43956760	missense	probably damaging	1.00
R6277:Crybg1	UTSW	10	43997259	missense	probably benign	0.03
R6338:Crybg1	UTSW	10	43992509	missense	probably damaging	1.00
R6348:Crybg1	UTSW	10	44003951	missense	probably damaging	1.00
R6514:Crybg1	UTSW	10	43997215	missense	probably damaging	1.00
R6785:Crybg1	UTSW	10	43999171	missense	probably benign	0.00
R6804:Crybg1	UTSW	10	43966341	missense	probably damaging	1.00
R6938:Crybg1	UTSW	10	43997383	missense	probably benign	0.01
R6983:Crybg1	UTSW	10	43999342	missense	probably damaging	1.00
R7002:Crybg1	UTSW	10	43998835	missense	probably damaging	1.00
R7153:Crybg1	UTSW	10	43964666	missense	possibly damaging	0.64
R7271:Crybg1	UTSW	10	43997623	nonsense	probably null
R7293:Crybg1	UTSW	10	44003432	missense	probably damaging	1.00
R7304:Crybg1	UTSW	10	43997258	missense	probably benign	0.05
R7313:Crybg1	UTSW	10	43989111	missense	probably damaging	0.98
R7373:Crybg1	UTSW	10	44004140	missense	probably benign	0.00
R7449:Crybg1	UTSW	10	44004519	missense	probably benign
R7530:Crybg1	UTSW	10	43999073	missense	possibly damaging	0.62
R7660:Crybg1	UTSW	10	43998835	missense	probably damaging	0.97
R7701:Crybg1	UTSW	10	43989143	missense	probably benign	0.06
R8181:Crybg1	UTSW	10	43986326	missense	probably damaging	0.98
R8237:Crybg1	UTSW	10	43966380	nonsense	probably null
R8359:Crybg1	UTSW	10	43992542	missense	probably benign	0.03
R8751:Crybg1	UTSW	10	44004842	missense	probably benign	0.04
R8809:Crybg1	UTSW	10	44003432	missense	probably damaging	1.00
R9017:Crybg1	UTSW	10	44004481	missense	probably benign	0.00
R9069:Crybg1	UTSW	10	43998107	missense	probably benign	0.30
R9099:Crybg1	UTSW	10	43998848	missense	probably benign	0.01
R9118:Crybg1	UTSW	10	44003929	missense	possibly damaging	0.56
R9185:Crybg1	UTSW	10	44004095	missense	probably benign	0.04
R9486:Crybg1	UTSW	10	44004149	start gained	probably benign
R9561:Crybg1	UTSW	10	43997432	missense	probably benign	0.00
RF005:Crybg1	UTSW	10	44004745	missense	probably benign	0.03
RF024:Crybg1	UTSW	10	44004745	missense	probably benign	0.03
X0065:Crybg1	UTSW	10	43992526	synonymous	silent
Z1088:Crybg1	UTSW	10	43997311	missense	probably benign

Posted On

2013-10-07