Mutagenetix > Incidental Mutations

Incidental Mutation 'R6514:Crybg1'

520517

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43950636-44148853 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43997215 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1299 (L1299H)

Ref Sequence

ENSEMBL: ENSMUSP00000143429 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020017
AA Change: L925H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: L925H

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 damaging
Transcript: ENSMUST00000200401
AA Change: L1299H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: L1299H

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

95% (35/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	G	A	11: 50,942,742	A11V	unknown	Het
Add1	T	A	5: 34,605,973	H168Q	probably damaging	Het
Apol7b	C	T	15: 77,423,926	R123Q	probably benign	Het
Arrdc3	A	G	13: 80,889,190	E155G	probably damaging	Het
Capn7	T	G	14: 31,344,554	D108E	probably benign	Het
Cdc6	A	G	11: 98,919,292	T476A	probably benign	Het
Cntnap5c	A	G	17: 58,330,170	E1014G	probably damaging	Het
Duoxa1	A	G	2: 122,304,713	S184P	probably benign	Het
Ech1	A	G	7: 28,826,015	H65R	possibly damaging	Het
Egr3	T	C	14: 70,078,917	L59P	probably damaging	Het
Eif4enif1	T	A	11: 3,240,996	D724E	probably null	Het
Erbb2	A	G	11: 98,420,146	D44G	probably benign	Het
Fer1l5	A	G	1: 36,403,616	I739V	probably benign	Het
Gfm1	T	C	3: 67,473,546	F665L	probably benign	Het
Gm10801	T	A	2: 98,663,869	W119R	probably benign	Het
H2-M11	A	T	17: 36,548,947	E277D	probably damaging	Het
Ighv1-66	T	C	12: 115,593,120	Y114C	possibly damaging	Het
Irf1	C	G	11: 53,771,322	L12V	probably damaging	Het
Itpr3	C	T	17: 27,091,370	A403V	probably benign	Het
Ly6g	C	T	15: 75,156,732	P14S	probably benign	Het
Mfsd13a	T	C	19: 46,374,625		probably null	Het
Mme	T	A	3: 63,364,844	C621*	probably null	Het
Mmp16	T	C	4: 18,116,123	C576R	probably damaging	Het
Ngp	A	T	9: 110,419,949	I30F	probably damaging	Het
Olfr450	T	A	6: 42,817,996	I175N	probably damaging	Het
Pdcd6ip	G	A	9: 113,689,694	T166I	probably benign	Het
Pgd	C	T	4: 149,160,752		probably null	Het
Plcb4	T	A	2: 135,954,996	H440Q	probably benign	Het
Ppl	A	G	16: 5,087,317	S1705P	probably damaging	Het
Ryr1	A	G	7: 29,046,841	F3831S	probably damaging	Het
Serpine2	A	C	1: 79,821,570		probably null	Het
Skor2	T	A	18: 76,862,694	W906R	probably damaging	Het
Tle6	G	A	10: 81,591,976	H482Y	probably damaging	Het
Ufl1	T	A	4: 25,262,238	D336V	probably damaging	Het
Vav1	T	C	17: 57,327,660	F832L	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
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
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
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'- GCCTCTAGGTTTAGAAACATCCC -3'
(R):5'- AGTCATCAGTGGTACAGCCC -3'

Sequencing Primer
(F):5'- TGCTTTGAAAAGGCCCAG -3'
(R):5'- CCCTGTGGCTCAGACAAAG -3'

Posted On

2018-06-06