Mutagenetix > Incidental Mutation

Incidental Mutation 'R5307:Crybg1'

404649

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

042890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5307 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44003714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 493 (S493G)

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: S119G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S119G

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 benign
Transcript: ENSMUST00000200401
AA Change: S493G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S493G

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,406,350	G531A	probably damaging	Het
2410089E03Rik	G	A	15: 8,260,690		probably null	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,723,549	T264A	probably benign	Het
Arhgef17	C	G	7: 100,929,428	G771A	probably benign	Het
Atg2b	T	A	12: 105,658,329	D637V	probably benign	Het
Atp10b	A	G	11: 43,212,475	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,589,964	V342A	probably damaging	Het
Atp2a2	A	G	5: 122,461,747	I527T	probably benign	Het
Atr	T	A	9: 95,878,544	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683	D383E	probably benign	Het
Casq1	A	T	1: 172,219,416	L92Q	probably damaging	Het
Chd1	T	A	17: 15,732,570	Y371N	probably damaging	Het
Chd9	G	A	8: 90,997,149	A617T	probably damaging	Het
Cntrob	T	A	11: 69,314,750	R419S	possibly damaging	Het
Corin	C	A	5: 72,356,978	G318C	probably damaging	Het
Cpa3	A	G	3: 20,227,163		probably null	Het
Ddc	A	G	11: 11,876,321	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,236,144	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,693,486	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,747,022	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099	E895G	probably damaging	Het
Ehhadh	A	C	16: 21,762,692	S517A	probably benign	Het
Ephb2	C	A	4: 136,693,787	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,363,312	T526A	probably damaging	Het
Fam222b	G	A	11: 78,153,768	V52I	probably damaging	Het
Galm	G	A	17: 80,144,987	W118*	probably null	Het
Galm	G	T	17: 80,144,988	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,944,386	N458D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gykl1	A	C	18: 52,694,651	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,167,946	V27G	probably damaging	Het
H2-T23	T	A	17: 36,032,216	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,337,312	E87G	unknown	Het
Hps3	G	A	3: 20,012,701	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,964,938	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,833,952	R117G	probably damaging	Het
Itgae	C	T	11: 73,145,638	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,581,673	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,145,473	T748I	probably damaging	Het
Lrig3	G	C	10: 126,006,690	D495H	probably damaging	Het
Mctp1	G	A	13: 76,712,079		probably null	Het
Mfsd3	T	A	15: 76,702,171	L168*	probably null	Het
Nlrp4d	C	A	7: 10,362,782	G921*	probably null	Het
Nsun4	G	A	4: 116,034,138	T348I	probably damaging	Het
Nucb1	T	C	7: 45,498,418	T246A	probably damaging	Het
Nynrin	A	C	14: 55,863,806	S311R	probably damaging	Het
Olfr1019	T	G	2: 85,841,014	Y259S	probably damaging	Het
Olfr1281	T	A	2: 111,328,396		probably null	Het
Ovch2	C	A	7: 107,792,134	R303L	probably benign	Het
Pcsk9	A	G	4: 106,447,174	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,323,030	F859L	probably benign	Het
Pkd1l3	A	G	8: 109,640,792	D1207G	probably damaging	Het
Pnpla7	G	A	2: 25,021,952	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,200,032	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,093,002	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,603,834	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,649,224	N128K	probably damaging	Het
Slc9a3r1	T	A	11: 115,163,761	I79N	probably damaging	Het
Slfn5	A	T	11: 82,956,385	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,490,490	I122T	possibly damaging	Het
Snx24	C	T	18: 53,340,211	Q76*	probably null	Het
Sspo	T	A	6: 48,454,850	H692Q	probably damaging	Het
Stxbp3	T	C	3: 108,793,798	D585G	probably damaging	Het
Svep1	T	C	4: 58,072,677	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,028,424		probably null	Het
Tnik	T	G	3: 28,541,972	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,659	H266L	probably damaging	Het
Ttn	G	T	2: 76,894,770	S2037*	probably null	Het
Tuba3a	G	A	6: 125,281,310	T239I	probably damaging	Het
Usp25	T	A	16: 77,093,706	D767E	probably benign	Het
Whrn	G	T	4: 63,431,843	H546N	probably benign	Het
Xirp2	C	T	2: 67,511,162	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,386,240	D333E	probably damaging	Het
Zfp689	T	G	7: 127,448,815	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	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
IGL01310:Crybg1	APN	10	44003600	missense	probably damaging	0.99
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTTGGTGGTCACAGTAGAC -3'
(R):5'- AAATCGGTACAAGCGGTTCCC -3'

Sequencing Primer
(F):5'- AACTGGTTCCTGGGCTTCAG -3'
(R):5'- GGTTCCCGACGGAGGCG -3'

Posted On

2016-07-22