Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Crybg1'

380728

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43999213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 633 (N633I)

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: N259I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: N259I

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: N633I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: N633I

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

0.1372

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GACGAATCTCTTCTCTGGGGAC -3'
(R):5'- TAACACCAGGCTGCTAACTGC -3'

Sequencing Primer
(F):5'- AGATGGCTCTTTGACCACCAG -3'
(R):5'- GCTGCTAACTGCCCTGTTG -3'

Posted On

2016-04-15