Mutagenetix > Incidental Mutation

Incidental Mutation 'R5212:Crybg1'

403186

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

042786-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43967743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1731 (F1731L)

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: F1357L

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: F1357L

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

possibly damaging
Transcript: ENSMUST00000200401
AA Change: F1731L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: F1731L

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

0.3329

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,065,850	S267T	possibly damaging	Het
Abca9	T	C	11: 110,107,226	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,677,670	D896V	probably damaging	Het
Amer2	A	G	14: 60,379,820	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,683,843	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,728,388	E46G	probably benign	Het
Atg2b	A	G	12: 105,646,796	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,776,093	K217N	probably damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,729,696	A845V	probably damaging	Het
Cd63	A	G	10: 128,911,853	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,638,615		probably null	Het
Clip1	T	A	5: 123,630,681	R618S	probably benign	Het
Dock1	A	C	7: 134,789,194	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,510,844	E180G	probably damaging	Het
F13b	A	T	1: 139,512,987	I394F	probably benign	Het
Fnta	A	G	8: 26,009,707	I155T	probably benign	Het
Fshr	T	A	17: 88,986,256	E331D	probably benign	Het
Fshr	T	A	17: 88,986,257	E331V	probably benign	Het
Gas2l1	A	T	11: 5,061,108	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,854,021		probably benign	Het
Gm3371	A	C	14: 44,403,654		probably benign	Het
Gm7489	T	A	15: 53,885,620		probably benign	Het
Hand1	A	C	11: 57,831,447	F114V	probably damaging	Het
Itga4	A	C	2: 79,280,595	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,104,901	H183L	probably benign	Het
Kif1bp	A	T	10: 62,563,129		probably benign	Het
Krt8	G	T	15: 101,997,967	A369D	possibly damaging	Het
Krt82	T	C	15: 101,545,049	S301G	probably damaging	Het
Lig3	A	G	11: 82,787,678	T248A	probably benign	Het
Madcam1	C	G	10: 79,668,345	T255S	probably benign	Het
Med20	T	C	17: 47,618,850	Y71H	probably benign	Het
Mtss1l	A	G	8: 110,729,218	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547	F328S	possibly damaging	Het
Ncbp3	A	G	11: 73,053,547		probably benign	Het
Nek8	T	C	11: 78,172,516	M1V	probably null	Het
Nufip1	A	T	14: 76,133,098	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,288,781		probably benign	Het
Plppr3	C	T	10: 79,862,445	G419R	probably benign	Het
Rfx1	G	T	8: 84,066,592		probably benign	Het
Rnpepl1	C	T	1: 92,911,323	A68V	probably benign	Het
Rsbn1l	A	T	5: 20,896,214	M776K	probably benign	Het
Setd7	A	T	3: 51,542,817	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Snap47	T	C	11: 59,428,352	E320G	probably damaging	Het
Spaca6	C	A	17: 17,838,394	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,506,215	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,576,292	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,446,260	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,638,704	Q27L	probably benign	Het
Ttn	T	C	2: 76,789,601	I15908V	probably benign	Het
Ttn	T	A	2: 76,797,675	D12931V	probably damaging	Het
Ttn	C	T	2: 76,901,613		probably benign	Het
Ush2a	T	A	1: 188,444,705		probably null	Het
Wls	A	G	3: 159,873,008	N69S	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
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'- CTGGGGCCAGTGAAAGAATC -3'
(R):5'- TGGGGTCTGATCAGCAAAACAC -3'

Sequencing Primer
(F):5'- GGCCAGTGAAAGAATCCTAAGC -3'
(R):5'- GGGTCTGATCAGCAAAACACTTTTTC -3'

Posted On

2016-07-22