Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Crybg1'

161399

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43851074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1599 (N1599S)

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: N1225S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: N1225S

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 benign
Transcript: ENSMUST00000200401
AA Change: N1599S

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: N1599S

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
Abl1	G	T	2: 31,691,822 (GRCm39)	A1114S	probably damaging	Het
Acbd5	T	C	2: 22,989,733 (GRCm39)	V452A	probably damaging	Het
Armc12	A	G	17: 28,756,910 (GRCm39)	D225G	probably damaging	Het
Atad3a	T	A	4: 155,840,139 (GRCm39)	Q121H	probably damaging	Het
Atosa	A	T	9: 74,913,603 (GRCm39)	T79S	probably benign	Het
Bptf	T	A	11: 106,963,873 (GRCm39)	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,448,064 (GRCm39)	I361N	probably damaging	Het
Canx	A	G	11: 50,199,221 (GRCm39)		probably benign	Het
Ccdc127	C	T	13: 74,505,034 (GRCm39)	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,642,465 (GRCm39)	K152E	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,181,204 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,248,853 (GRCm39)	Y1801N	possibly damaging	Het
Cyc1	T	C	15: 76,228,548 (GRCm39)	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,183,117 (GRCm39)	K484E	probably benign	Het
Ddx60	T	C	8: 62,411,193 (GRCm39)		probably benign	Het
Epg5	T	C	18: 78,005,642 (GRCm39)	S711P	probably damaging	Het
Espl1	A	T	15: 102,214,120 (GRCm39)	Q649L	probably benign	Het
Eya1	G	A	1: 14,374,638 (GRCm39)		probably benign	Het
Fat2	T	A	11: 55,186,913 (GRCm39)	Y1311F	probably damaging	Het
Garin5b	T	A	7: 4,760,687 (GRCm39)	H675L	possibly damaging	Het
Gins4	T	C	8: 23,717,144 (GRCm39)	Y208C	probably damaging	Het
Gsk3b	T	C	16: 37,910,937 (GRCm39)	V17A	probably benign	Het
Gykl1	A	T	18: 52,827,833 (GRCm39)	K347I	probably benign	Het
Helz	T	A	11: 107,483,666 (GRCm39)		probably benign	Het
Hivep3	C	T	4: 119,953,772 (GRCm39)	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,409,093 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,944,987 (GRCm39)		probably benign	Het
Kpna3	C	T	14: 61,620,669 (GRCm39)		probably benign	Het
Mmp15	C	G	8: 96,096,190 (GRCm39)	P327R	probably benign	Het
Mrc1	A	T	2: 14,320,074 (GRCm39)	T1003S	probably benign	Het
Mtss1	T	C	15: 58,819,239 (GRCm39)	D393G	probably benign	Het
Olfm4	T	A	14: 80,258,843 (GRCm39)	Y331N	probably damaging	Het
Or10a49	T	A	7: 108,468,167 (GRCm39)	N65Y	probably damaging	Het
Or4c12b	G	C	2: 89,646,725 (GRCm39)	L12F	probably damaging	Het
P2rx3	G	C	2: 84,855,294 (GRCm39)	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,924,937 (GRCm39)	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,308,155 (GRCm39)		probably null	Het
Pknox1	T	C	17: 31,811,066 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,422,256 (GRCm39)	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 184,980,101 (GRCm39)	A340T	probably damaging	Het
Rnf103	T	A	6: 71,485,983 (GRCm39)	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,530,923 (GRCm39)	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,793 (GRCm39)		probably benign	Het
Sstr4	A	G	2: 148,238,279 (GRCm39)	S297G	probably benign	Het
Timm8a1	C	T	X: 133,438,872 (GRCm39)	E93K	probably benign	Het
Uck1	A	C	2: 32,148,367 (GRCm39)	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,805,300 (GRCm39)		probably benign	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
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
R7530:Crybg1	UTSW	10	43,875,069 (GRCm39)	missense	possibly damaging	0.62
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'- ATGACAACAGCCTGGGGTTCAGTC -3'
(R):5'- GGAGAATTGTACTCAGCCTTTACCTGC -3'

Sequencing Primer
(F):5'- CTGGGGTTCAGTCTCCATGAC -3'
(R):5'- CCTTTGAAGGAAGGTGTATGGAG -3'

Posted On

2014-03-14