Mutagenetix > Incidental Mutation

Incidental Mutation 'R8359:Crybg1'

645926

Institutional Source

Beutler Lab

Gene Symbol

Crybg1

Ensembl Gene

ENSMUSG00000019866

Gene Name

crystallin beta-gamma domain containing 1

Synonyms

Aim1

MMRRC Submission

067872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43826632-44024849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43868538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1380 (E1380G)

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: E1006G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: E1006G

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: E1380G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: E1380G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,296,502 (GRCm39)	V315D	probably damaging	Het
Adgrf1	A	T	17: 43,621,286 (GRCm39)	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,298,129 (GRCm39)	D147G	probably damaging	Het
Brwd1	T	C	16: 95,817,409 (GRCm39)	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,043,799 (GRCm39)	E1626V	probably benign	Het
Carm1	G	A	9: 21,480,765 (GRCm39)	V80I	possibly damaging	Het
Cenpw	T	A	10: 30,074,484 (GRCm39)	D71V	probably damaging	Het
Cit	T	A	5: 116,122,603 (GRCm39)		probably null	Het
Ckmt1	A	T	2: 121,193,531 (GRCm39)	T364S	probably benign	Het
Col6a4	T	C	9: 105,945,583 (GRCm39)	S844G	probably benign	Het
Cyp21a1	A	G	17: 35,021,105 (GRCm39)		probably null	Het
Dhodh	A	C	8: 110,333,038 (GRCm39)	D12E	probably benign	Het
Dnali1	T	A	4: 124,957,460 (GRCm39)	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,091,870 (GRCm39)	N93D	probably benign	Het
Edem1	C	T	6: 108,823,774 (GRCm39)	A390V	probably benign	Het
Enthd1	T	C	15: 80,358,356 (GRCm39)	D388G	probably benign	Het
Fam170a	A	G	18: 50,414,677 (GRCm39)	T108A	probably damaging	Het
Fryl	A	G	5: 73,233,276 (GRCm39)	S1531P	probably benign	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hspbap1	C	A	16: 35,645,366 (GRCm39)	N350K	probably benign	Het
Htr3b	A	C	9: 48,858,596 (GRCm39)	S94R	probably damaging	Het
Ide	A	T	19: 37,307,886 (GRCm39)	V42E		Het
Igf2r	A	G	17: 12,902,748 (GRCm39)	V2434A	probably benign	Het
Katnip	T	C	7: 125,468,023 (GRCm39)		probably null	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Mccc1	C	T	3: 36,018,493 (GRCm39)	V614I	probably benign	Het
Mos	A	G	4: 3,871,097 (GRCm39)	Y240H	probably damaging	Het
Myh11	C	T	16: 14,026,095 (GRCm39)		probably null	Het
Nexn	T	A	3: 151,953,998 (GRCm39)	D166V	probably damaging	Het
Or10h1b	G	A	17: 33,395,895 (GRCm39)	C173Y	probably damaging	Het
Or2t47	G	T	11: 58,443,029 (GRCm39)	T12N	probably benign	Het
Or4p4	A	T	2: 88,483,332 (GRCm39)	M279L	probably benign	Het
Or5p81	T	A	7: 108,267,518 (GRCm39)	N298K	probably benign	Het
Pkp4	A	G	2: 59,180,895 (GRCm39)	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,171,370 (GRCm39)	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,273,627 (GRCm39)	I920L	probably benign	Het
Plekha2	A	G	8: 25,578,407 (GRCm39)	I31T	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,295 (GRCm39)	V407L	probably benign	Het
Prss50	A	G	9: 110,691,370 (GRCm39)	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,935,580 (GRCm39)	E231V		Het
Sema3c	T	C	5: 17,858,726 (GRCm39)	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,110,693 (GRCm39)		probably null	Het
Slc22a20	T	C	19: 6,021,554 (GRCm39)	I483V	probably benign	Het
Slc30a2	T	C	4: 134,076,690 (GRCm39)	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,693,002 (GRCm39)	F207L	probably benign	Het
Slc9a1	A	T	4: 133,147,927 (GRCm39)	Q648H	probably damaging	Het
Slpi	A	T	2: 164,197,975 (GRCm39)	M1K	probably null	Het
Smc5	A	C	19: 23,211,443 (GRCm39)	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,738,238 (GRCm39)	F542L	probably damaging	Het
Sycp1	T	A	3: 102,727,909 (GRCm39)	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,716,208 (GRCm39)	T126S	probably benign	Het
Upp2	A	G	2: 58,667,955 (GRCm39)	N216S	probably benign	Het
Wnk1	T	C	6: 119,969,408 (GRCm39)	D349G	probably damaging	Het
Zfp180	C	T	7: 23,804,337 (GRCm39)	A252V	probably benign	Het
Zfr2	C	T	10: 81,078,653 (GRCm39)	T295I	possibly damaging	Het
Zkscan16	C	T	4: 58,957,230 (GRCm39)	T504I	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
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
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
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'- GTGTACCCTAACACCAGCTG -3'
(R):5'- TGATTGCAGACTCTTAGAGGAAG -3'

Sequencing Primer
(F):5'- GTGTACCCTAATACCAGCTGTAAG -3'
(R):5'- TTGCAGACTCTTAGAGGAAGTATGC -3'

Posted On

2020-09-02