Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Crybg1'

167011

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

040870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43874412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 899 (S899P)

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: S525P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S525P

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: S899P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S899P

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,713,867 (GRCm39)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,741,443 (GRCm39)	V360A	probably benign	Het
Ahnak	G	A	19: 8,982,092 (GRCm39)	M1125I	probably benign	Het
Akap12	T	C	10: 4,304,804 (GRCm39)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,242,749 (GRCm39)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,517,689 (GRCm39)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,917,654 (GRCm39)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,616,328 (GRCm39)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,619,163 (GRCm39)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm39)	E96G	probably damaging	Het
Ccdc78	G	T	17: 26,007,755 (GRCm39)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Cog7	C	T	7: 121,529,797 (GRCm39)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,164,690 (GRCm39)	V115A	probably benign	Het
Ctdnep1	T	A	11: 69,879,461 (GRCm39)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,795,621 (GRCm39)	K780E	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,515,946 (GRCm39)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,182,014 (GRCm39)		noncoding transcript	Het
Dppa1	T	A	11: 46,501,300 (GRCm39)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,289,197 (GRCm39)	T241S	probably benign	Het
Eya1	G	T	1: 14,344,774 (GRCm39)	Q86K	probably damaging	Het
Fam110d	T	C	4: 133,978,661 (GRCm39)	*272W	probably null	Het
Fancm	A	T	12: 65,168,478 (GRCm39)	M1614L	probably benign	Het
Fcgbp	C	T	7: 27,774,585 (GRCm39)	T53I	probably benign	Het
Fpr3	T	A	17: 18,191,277 (GRCm39)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,744,657 (GRCm39)	V119I	probably benign	Het
Garin4	T	A	1: 190,896,219 (GRCm39)	R141S	probably benign	Het
Gcfc2	T	C	6: 81,900,793 (GRCm39)	S36P	probably benign	Het
Gdap2	T	A	3: 100,101,931 (GRCm39)	D412E	possibly damaging	Het
Gm12258	T	C	11: 58,750,381 (GRCm39)	C41R	probably damaging	Het
Hipk1	T	G	3: 103,685,098 (GRCm39)	E172D	probably benign	Het
Hmgcs1	T	G	13: 120,165,127 (GRCm39)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,107,967 (GRCm39)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,564,573 (GRCm39)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,146,661 (GRCm39)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,793,680 (GRCm39)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,111,558 (GRCm39)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,227,309 (GRCm39)	C39Y	probably damaging	Het
Kif22	G	T	7: 126,627,011 (GRCm39)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,141,307 (GRCm39)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,354,108 (GRCm39)		probably null	Het
Klhl9	A	G	4: 88,640,230 (GRCm39)	S4P	probably benign	Het
Klk10	A	G	7: 43,432,304 (GRCm39)	Q79R	probably benign	Het
Klk6	T	C	7: 43,478,699 (GRCm39)		probably null	Het
Kpna2rt	T	A	17: 90,217,734 (GRCm39)	N4I	possibly damaging	Het
Lamc2	C	T	1: 153,042,009 (GRCm39)	E42K	probably benign	Het
Lingo3	T	C	10: 80,671,555 (GRCm39)	D125G	probably benign	Het
Map1b	T	C	13: 99,569,247 (GRCm39)	N1158S	unknown	Het
Masp1	T	A	16: 23,313,387 (GRCm39)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,615,700 (GRCm39)	Y636H	probably benign	Het
Mical2	T	A	7: 111,980,817 (GRCm39)	S264T	probably damaging	Het
Mif	A	G	10: 75,695,375 (GRCm39)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,672,152 (GRCm39)		probably null	Het
Mmp23	T	C	4: 155,735,174 (GRCm39)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,257,142 (GRCm39)	S800R	possibly damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,856,488 (GRCm39)	S67R	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or10d3	A	T	9: 39,462,080 (GRCm39)	V29E	possibly damaging	Het
Or4a47	G	A	2: 89,665,516 (GRCm39)	R258*	probably null	Het
Or52s1b	T	A	7: 102,822,658 (GRCm39)	Y62F	probably benign	Het
Or5k1b	C	T	16: 58,581,216 (GRCm39)	E108K	probably damaging	Het
Or7e176	A	C	9: 20,171,728 (GRCm39)	Q197H	possibly damaging	Het
Or7g27	C	T	9: 19,249,948 (GRCm39)	S64F	probably benign	Het
Or8b51	T	G	9: 38,569,014 (GRCm39)	I225L	probably damaging	Het
Otog	A	T	7: 45,908,688 (GRCm39)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,430,023 (GRCm39)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,150,592 (GRCm39)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 108,836,373 (GRCm39)	T134P	probably damaging	Het
Phc3	G	T	3: 30,990,724 (GRCm39)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,320,049 (GRCm39)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,309,997 (GRCm39)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,792,239 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,733,437 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,434 (GRCm39)	I376N	probably damaging	Het
Pold2	T	A	11: 5,826,833 (GRCm39)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,521,320 (GRCm39)	L281P	probably damaging	Het
Prss46	A	G	9: 110,678,703 (GRCm39)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,788,846 (GRCm39)	V502E	probably benign	Het
Rdh14	T	C	12: 10,444,613 (GRCm39)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 85,692,487 (GRCm39)		probably null	Het
Rpp30	A	G	19: 36,071,785 (GRCm39)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm39)	F117L	probably damaging	Het
Rxylt1	A	G	10: 121,926,384 (GRCm39)	W243R	probably damaging	Het
S100a2	T	A	3: 90,498,599 (GRCm39)		probably null	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,141,559 (GRCm39)	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,678,415 (GRCm39)	K27R	probably damaging	Het
Spata17	T	A	1: 186,926,191 (GRCm39)	K46N	probably damaging	Het
St14	A	C	9: 31,019,511 (GRCm39)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,575,173 (GRCm39)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,002,844 (GRCm39)	V831A	probably damaging	Het
Tert	A	G	13: 73,790,175 (GRCm39)	E843G	probably damaging	Het
Tex21	A	G	12: 76,251,044 (GRCm39)	V464A	probably benign	Het
Tmem232	T	A	17: 65,791,496 (GRCm39)	H124L	probably damaging	Het
Tnfrsf19	T	G	14: 61,242,555 (GRCm39)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,069,562 (GRCm39)	K272*	probably null	Het
Tnxb	T	C	17: 34,930,477 (GRCm39)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,149,748 (GRCm39)	D440A	probably benign	Het
Trpm3	A	G	19: 22,878,585 (GRCm39)	E504G	probably damaging	Het
Trpm5	C	T	7: 142,636,626 (GRCm39)	R437H	probably benign	Het
Ttn	T	C	2: 76,571,511 (GRCm39)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,674,160 (GRCm39)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,550,751 (GRCm39)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,683,048 (GRCm39)	C452*	probably null	Het
Uvssa	G	A	5: 33,571,278 (GRCm39)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,741,248 (GRCm39)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,225,137 (GRCm39)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,261,788 (GRCm39)	H183P	probably damaging	Het
Vps13d	G	T	4: 144,832,431 (GRCm39)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,024 (GRCm39)	I179F	probably benign	Het
Zfp112	A	G	7: 23,825,210 (GRCm39)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,367,859 (GRCm39)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,260,071 (GRCm39)		probably null	Het
Zfp668	C	T	7: 127,466,252 (GRCm39)	E311K	probably benign	Het
Zfp763	T	A	17: 33,252,276 (GRCm39)	M1L	probably benign	Het
Zfp947	A	T	17: 22,364,813 (GRCm39)	M287K	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
R1428:Crybg1	UTSW	10	43,851,074 (GRCm39)	missense	probably benign	0.33
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'- TCGAGACTGTGCCACATGTCCTTC -3'
(R):5'- TCAAGTTCCCATATGCAGTGTTCCC -3'

Sequencing Primer
(F):5'- ACATGTCCTTCTCTGTGATGG -3'
(R):5'- CTGCACTGCTCTAGAAGTGTC -3'

Posted On

2014-04-13