Mutagenetix > Incidental Mutation

Incidental Mutation 'R7530:Crybg1'

583269

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

045602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43875069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 680 (A680T)

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: A306T

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: A306T

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: A680T

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: A680T

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Atp10a	A	G	7: 58,423,724 (GRCm39)	T230A	probably benign	Het
Atp5mc2	A	T	15: 102,576,183 (GRCm39)	M1K	probably null	Het
Atp8a1	A	C	5: 67,902,971 (GRCm39)	L535R		Het
Bsn	A	G	9: 107,989,155 (GRCm39)	I2199T	probably damaging	Het
Ccdc73	A	G	2: 104,824,915 (GRCm39)	T155A		Het
Cdc42bpg	T	G	19: 6,372,305 (GRCm39)	F1430L	probably benign	Het
Cdc42bpg	G	T	19: 6,372,306 (GRCm39)	V1431L	probably benign	Het
Chat	A	T	14: 32,130,915 (GRCm39)	Y575*	probably null	Het
Cimip4	T	C	15: 78,270,516 (GRCm39)	D84G	probably benign	Het
Col6a4	A	T	9: 105,945,589 (GRCm39)	C842S	probably damaging	Het
Coq2	T	C	5: 100,822,008 (GRCm39)	S34G	probably benign	Het
Ctsr	T	A	13: 61,310,931 (GRCm39)	K38N	probably damaging	Het
Dpm2	T	C	2: 32,462,313 (GRCm39)	F33S	probably damaging	Het
Ecpas	A	G	4: 58,815,317 (GRCm39)	M1322T	probably damaging	Het
Ext2	T	A	2: 93,491,998 (GRCm39)	H564L	probably benign	Het
Fbxl2	G	T	9: 113,818,241 (GRCm39)	H202N	probably benign	Het
Fra10ac1	A	T	19: 38,204,353 (GRCm39)	Y74*	probably null	Het
Greb1	T	A	12: 16,767,207 (GRCm39)	I332F	probably benign	Het
Ifnar2	A	G	16: 91,201,201 (GRCm39)	S481G	probably benign	Het
Igkv9-123	G	A	6: 67,931,381 (GRCm39)	P62S	possibly damaging	Het
Iqub	T	C	6: 24,450,622 (GRCm39)	Q659R	probably benign	Het
Kansl2	T	C	15: 98,426,896 (GRCm39)	T242A	probably benign	Het
Kif28	C	T	1: 179,536,045 (GRCm39)	G543D	probably benign	Het
Lsg1	A	G	16: 30,401,419 (GRCm39)	S93P	possibly damaging	Het
Med23	T	A	10: 24,781,851 (GRCm39)	C1052S	probably benign	Het
Mgam	G	T	6: 40,686,152 (GRCm39)		probably null	Het
Mtmr4	C	T	11: 87,502,702 (GRCm39)	R919W	probably damaging	Het
Muc5ac	G	T	7: 141,367,536 (GRCm39)	V2986L	possibly damaging	Het
Myo5b	A	G	18: 74,864,802 (GRCm39)	E1340G	probably benign	Het
Nkd2	T	C	13: 73,995,078 (GRCm39)	D40G	possibly damaging	Het
Nudt5	T	C	2: 5,869,179 (GRCm39)	L135S	probably damaging	Het
Oca2	A	C	7: 55,981,720 (GRCm39)	D614A	probably damaging	Het
Or1e16	A	G	11: 73,279,189 (GRCm39)	V221A	possibly damaging	Het
Or6c201	A	C	10: 128,969,849 (GRCm39)		probably null	Het
Or8k24	T	A	2: 86,216,515 (GRCm39)	L82F	probably damaging	Het
Plec	C	A	15: 76,069,844 (GRCm39)	A991S	unknown	Het
Plekhg2	G	A	7: 28,061,353 (GRCm39)	R817C	probably damaging	Het
Plrg1	T	A	3: 82,965,989 (GRCm39)	L48H	probably damaging	Het
Prx	A	G	7: 27,207,397 (GRCm39)	E18G	probably damaging	Het
Ptprf	T	C	4: 118,069,945 (GRCm39)	Y1479C	probably damaging	Het
Rap1b	A	T	10: 117,653,357 (GRCm39)	Y159*	probably null	Het
Rbck1	T	C	2: 152,166,212 (GRCm39)	E242G	possibly damaging	Het
Rxfp1	T	C	3: 79,557,768 (GRCm39)	D570G	probably benign	Het
Slc35f5	G	T	1: 125,512,275 (GRCm39)	L358F	probably damaging	Het
Smarcd2	A	G	11: 106,156,587 (GRCm39)	W274R	probably damaging	Het
Spata6l	A	T	19: 28,926,121 (GRCm39)	Y43*	probably null	Het
Ssu72	A	G	4: 155,815,786 (GRCm39)	T77A	probably benign	Het
Tomm40	G	A	7: 19,436,829 (GRCm39)	T297I	possibly damaging	Het
Urb1	A	T	16: 90,558,522 (GRCm39)	I1743N	probably damaging	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het

Other mutations in Crybg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Crybg1	APN	10	43,868,505 (GRCm39)	missense	probably damaging	1.00
IGL00502:Crybg1	APN	10	43,834,309 (GRCm39)	missense	probably damaging	1.00
IGL00848:Crybg1	APN	10	43,843,814 (GRCm39)	splice site	probably null
IGL01287:Crybg1	APN	10	43,868,490 (GRCm39)	missense	possibly damaging	0.53
IGL01310:Crybg1	APN	10	43,879,596 (GRCm39)	missense	probably damaging	0.99
IGL01310:Crybg1	APN	10	43,851,054 (GRCm39)	missense	possibly damaging	0.95
IGL02683:Crybg1	APN	10	43,865,212 (GRCm39)	missense	possibly damaging	0.64
IGL03095:Crybg1	APN	10	43,865,245 (GRCm39)	missense	probably damaging	1.00
R0062:Crybg1	UTSW	10	43,873,902 (GRCm39)	missense	probably damaging	0.98
R0142:Crybg1	UTSW	10	43,875,059 (GRCm39)	missense	possibly damaging	0.83
R0294:Crybg1	UTSW	10	43,862,372 (GRCm39)	missense	probably damaging	1.00
R0539:Crybg1	UTSW	10	43,874,894 (GRCm39)	missense	probably benign	0.03
R0781:Crybg1	UTSW	10	43,875,089 (GRCm39)	missense	possibly damaging	0.95
R1110:Crybg1	UTSW	10	43,875,089 (GRCm39)	missense	possibly damaging	0.95
R1189:Crybg1	UTSW	10	43,874,790 (GRCm39)	missense	probably damaging	1.00
R1428:Crybg1	UTSW	10	43,851,074 (GRCm39)	missense	probably benign	0.33
R1521:Crybg1	UTSW	10	43,874,412 (GRCm39)	missense	probably damaging	1.00
R1688:Crybg1	UTSW	10	43,849,794 (GRCm39)	missense	probably damaging	1.00
R1728:Crybg1	UTSW	10	43,880,015 (GRCm39)	missense	probably damaging	0.97
R1756:Crybg1	UTSW	10	43,862,275 (GRCm39)	missense	probably damaging	1.00
R1773:Crybg1	UTSW	10	43,868,544 (GRCm39)	missense	possibly damaging	0.91
R1784:Crybg1	UTSW	10	43,880,015 (GRCm39)	missense	probably damaging	0.97
R1850:Crybg1	UTSW	10	43,873,670 (GRCm39)	missense	probably damaging	1.00
R1911:Crybg1	UTSW	10	43,873,673 (GRCm39)	missense	possibly damaging	0.47
R1920:Crybg1	UTSW	10	43,873,544 (GRCm39)	missense	probably damaging	1.00
R1964:Crybg1	UTSW	10	43,834,326 (GRCm39)	missense	probably damaging	1.00
R2298:Crybg1	UTSW	10	43,875,218 (GRCm39)	missense	probably damaging	1.00
R3617:Crybg1	UTSW	10	43,832,782 (GRCm39)	missense	possibly damaging	0.82
R3913:Crybg1	UTSW	10	43,874,759 (GRCm39)	missense	possibly damaging	0.95
R4081:Crybg1	UTSW	10	43,851,035 (GRCm39)	missense	probably damaging	1.00
R4116:Crybg1	UTSW	10	43,875,158 (GRCm39)	missense	possibly damaging	0.91
R4409:Crybg1	UTSW	10	43,874,754 (GRCm39)	missense	possibly damaging	0.94
R4583:Crybg1	UTSW	10	43,873,616 (GRCm39)	missense	probably damaging	1.00
R4721:Crybg1	UTSW	10	43,873,883 (GRCm39)	missense	probably damaging	1.00
R4818:Crybg1	UTSW	10	43,874,583 (GRCm39)	missense	probably benign	0.00
R4859:Crybg1	UTSW	10	43,868,565 (GRCm39)	missense	probably damaging	1.00
R4933:Crybg1	UTSW	10	43,875,209 (GRCm39)	missense	probably damaging	1.00
R5028:Crybg1	UTSW	10	43,874,208 (GRCm39)	missense	possibly damaging	0.74
R5057:Crybg1	UTSW	10	43,865,104 (GRCm39)	nonsense	probably null
R5102:Crybg1	UTSW	10	43,873,832 (GRCm39)	missense	probably damaging	1.00
R5103:Crybg1	UTSW	10	43,873,944 (GRCm39)	missense	probably damaging	1.00
R5137:Crybg1	UTSW	10	43,834,332 (GRCm39)	missense	probably damaging	1.00
R5212:Crybg1	UTSW	10	43,843,739 (GRCm39)	missense	possibly damaging	0.95
R5307:Crybg1	UTSW	10	43,879,710 (GRCm39)	missense	probably benign	0.00
R5353:Crybg1	UTSW	10	43,849,661 (GRCm39)	missense	probably damaging	1.00
R5463:Crybg1	UTSW	10	43,879,689 (GRCm39)	nonsense	probably null
R5503:Crybg1	UTSW	10	43,874,762 (GRCm39)	missense	probably benign	0.00
R5583:Crybg1	UTSW	10	43,879,506 (GRCm39)	missense	probably benign	0.01
R5835:Crybg1	UTSW	10	43,851,129 (GRCm39)	missense	probably benign	0.28
R6021:Crybg1	UTSW	10	43,873,534 (GRCm39)	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43,832,756 (GRCm39)	missense	probably damaging	1.00
R6032:Crybg1	UTSW	10	43,832,756 (GRCm39)	missense	probably damaging	1.00
R6277:Crybg1	UTSW	10	43,873,255 (GRCm39)	missense	probably benign	0.03
R6338:Crybg1	UTSW	10	43,868,505 (GRCm39)	missense	probably damaging	1.00
R6348:Crybg1	UTSW	10	43,879,947 (GRCm39)	missense	probably damaging	1.00
R6514:Crybg1	UTSW	10	43,873,211 (GRCm39)	missense	probably damaging	1.00
R6785:Crybg1	UTSW	10	43,875,167 (GRCm39)	missense	probably benign	0.00
R6804:Crybg1	UTSW	10	43,842,337 (GRCm39)	missense	probably damaging	1.00
R6938:Crybg1	UTSW	10	43,873,379 (GRCm39)	missense	probably benign	0.01
R6983:Crybg1	UTSW	10	43,875,338 (GRCm39)	missense	probably damaging	1.00
R7002:Crybg1	UTSW	10	43,874,831 (GRCm39)	missense	probably damaging	1.00
R7153:Crybg1	UTSW	10	43,840,662 (GRCm39)	missense	possibly damaging	0.64
R7271:Crybg1	UTSW	10	43,873,619 (GRCm39)	nonsense	probably null
R7293:Crybg1	UTSW	10	43,879,428 (GRCm39)	missense	probably damaging	1.00
R7304:Crybg1	UTSW	10	43,873,254 (GRCm39)	missense	probably benign	0.05
R7313:Crybg1	UTSW	10	43,865,107 (GRCm39)	missense	probably damaging	0.98
R7373:Crybg1	UTSW	10	43,880,136 (GRCm39)	missense	probably benign	0.00
R7449:Crybg1	UTSW	10	43,880,515 (GRCm39)	missense	probably benign
R7660:Crybg1	UTSW	10	43,874,831 (GRCm39)	missense	probably damaging	0.97
R7701:Crybg1	UTSW	10	43,865,139 (GRCm39)	missense	probably benign	0.06
R8181:Crybg1	UTSW	10	43,862,322 (GRCm39)	missense	probably damaging	0.98
R8237:Crybg1	UTSW	10	43,842,376 (GRCm39)	nonsense	probably null
R8359:Crybg1	UTSW	10	43,868,538 (GRCm39)	missense	probably benign	0.03
R8751:Crybg1	UTSW	10	43,880,838 (GRCm39)	missense	probably benign	0.04
R8809:Crybg1	UTSW	10	43,879,428 (GRCm39)	missense	probably damaging	1.00
R9017:Crybg1	UTSW	10	43,880,477 (GRCm39)	missense	probably benign	0.00
R9069:Crybg1	UTSW	10	43,874,103 (GRCm39)	missense	probably benign	0.30
R9099:Crybg1	UTSW	10	43,874,844 (GRCm39)	missense	probably benign	0.01
R9118:Crybg1	UTSW	10	43,879,925 (GRCm39)	missense	possibly damaging	0.56
R9185:Crybg1	UTSW	10	43,880,091 (GRCm39)	missense	probably benign	0.04
R9486:Crybg1	UTSW	10	43,880,145 (GRCm39)	start gained	probably benign
R9561:Crybg1	UTSW	10	43,873,428 (GRCm39)	missense	probably benign	0.00
RF005:Crybg1	UTSW	10	43,880,741 (GRCm39)	missense	probably benign	0.03
RF024:Crybg1	UTSW	10	43,880,741 (GRCm39)	missense	probably benign	0.03
X0065:Crybg1	UTSW	10	43,868,522 (GRCm39)	synonymous	silent
Z1088:Crybg1	UTSW	10	43,873,307 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACTTTGCTCAGGCTCAG -3'
(R):5'- CGAAGAATCCTGACAGTTTGGG -3'

Sequencing Primer
(F):5'- TCAGGCTCAGGGCGGAG -3'
(R):5'- CATTTAGCCAGCCAGTTCATAAGGG -3'

Posted On

2019-10-17