Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01310:Crybg1'

73618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01310

Quality Score

Status

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43851054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1606 (S1606T)

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: S1232T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: S1232T

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: S1606T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: S1606T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930431F12Rik	A	T	5: 45,125,156 (GRCm39)		noncoding transcript	Het
Abca12	A	T	1: 71,323,315 (GRCm39)	I1589N	probably benign	Het
Abca8a	T	G	11: 109,950,801 (GRCm39)	D888A	probably benign	Het
Adam5	C	T	8: 25,232,150 (GRCm39)		probably benign	Het
Amer1	A	T	X: 94,470,716 (GRCm39)	N467K	probably benign	Het
Atp6v0a2	A	G	5: 124,783,968 (GRCm39)	D272G	probably damaging	Het
Cacna1b	A	T	2: 24,575,794 (GRCm39)	N751K	probably damaging	Het
Cfi	T	A	3: 129,652,080 (GRCm39)	N250K	probably damaging	Het
Cndp2	G	T	18: 84,689,002 (GRCm39)	P260Q	possibly damaging	Het
Cnnm3	A	G	1: 36,551,956 (GRCm39)	D322G	probably benign	Het
Espnl	A	T	1: 91,268,333 (GRCm39)	K320*	probably null	Het
Glt1d1	A	G	5: 127,709,384 (GRCm39)	T13A	possibly damaging	Het
Gpam	C	T	19: 55,066,764 (GRCm39)	A584T	possibly damaging	Het
Gpr19	A	G	6: 134,846,705 (GRCm39)	I289T	probably damaging	Het
Grm8	T	C	6: 27,363,800 (GRCm39)	I572V	probably damaging	Het
Gtpbp4	A	T	13: 9,027,308 (GRCm39)	N502K	probably benign	Het
Herpud2	T	C	9: 25,062,247 (GRCm39)	M6V	probably benign	Het
Igdcc3	T	C	9: 65,085,724 (GRCm39)	V263A	probably damaging	Het
Il33	G	A	19: 29,930,156 (GRCm39)	A65T	probably benign	Het
Itga9	T	A	9: 118,598,227 (GRCm39)	M1K	probably null	Het
Izumo3	T	C	4: 92,035,217 (GRCm39)		probably benign	Het
Kdr	G	A	5: 76,110,261 (GRCm39)	P909S	probably damaging	Het
Kirrel1	C	T	3: 86,997,182 (GRCm39)	E262K	probably benign	Het
Krt25	T	A	11: 99,208,996 (GRCm39)	Q278L	probably benign	Het
Lgi2	G	T	5: 52,711,807 (GRCm39)	P195Q	probably benign	Het
Lpcat3	T	C	6: 124,676,301 (GRCm39)	F120S	possibly damaging	Het
Nalcn	C	T	14: 123,554,661 (GRCm39)	R910Q	probably benign	Het
Nrxn1	A	G	17: 90,366,902 (GRCm39)		probably null	Het
Nuf2	A	T	1: 169,326,431 (GRCm39)	V440E	probably benign	Het
Or10ag60	T	A	2: 87,437,852 (GRCm39)	I40N	possibly damaging	Het
Or4f14	C	T	2: 111,742,652 (GRCm39)	V208M	probably benign	Het
Or51ah3	C	T	7: 103,210,008 (GRCm39)	S108F	probably benign	Het
Or6c205	T	C	10: 129,086,865 (GRCm39)	I154T	possibly damaging	Het
Pfpl	A	G	19: 12,405,974 (GRCm39)	D75G	probably damaging	Het
Pgm5	A	G	19: 24,812,130 (GRCm39)	V134A	possibly damaging	Het
Prkch	A	G	12: 73,805,787 (GRCm39)	I521V	possibly damaging	Het
Rps6kc1	T	A	1: 190,515,822 (GRCm39)	E968V	probably benign	Het
Slc25a30	T	C	14: 76,007,037 (GRCm39)	Y153C	probably damaging	Het
Smtnl2	T	A	11: 72,292,171 (GRCm39)		probably null	Het
Spmip4	C	A	6: 50,551,175 (GRCm39)	V425L	probably benign	Het
Tbc1d14	T	A	5: 36,700,544 (GRCm39)	K275*	probably null	Het
Tnc	T	C	4: 63,931,314 (GRCm39)	T799A	probably benign	Het
Trdn	A	T	10: 33,181,094 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,706,879 (GRCm39)		probably benign	Het
Uaca	T	C	9: 60,779,507 (GRCm39)	M1296T	probably benign	Het
Ubash3a	A	C	17: 31,434,116 (GRCm39)	I154L	probably benign	Het
Vmn2r4	T	A	3: 64,317,200 (GRCm39)		probably null	Het
Xpc	T	C	6: 91,467,089 (GRCm39)	K915E	probably benign	Het
Zfp318	T	C	17: 46,724,153 (GRCm39)	I2052T	possibly 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
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
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

Posted On

2013-10-07