Mutagenetix > Incidental Mutation

Incidental Mutation 'R6007:Crybg3'

479557

Institutional Source

Beutler Lab

Gene Symbol

Crybg3

Ensembl Gene

ENSMUSG00000022723

Gene Name

beta-gamma crystallin domain containing 3

Synonyms

Gm9581

MMRRC Submission

044184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R6007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59312451-59421410 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 59374837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 2139 (S2139*)

Ref Sequence

ENSEMBL: ENSMUSP00000156047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000139989] [ENSMUST00000172910]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044604
AA Change: S425*

SMART Domains

Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: S425*

Domain	Start	End	E-Value	Type
low complexity region	258	273	N/A	INTRINSIC
low complexity region	282	290	N/A	INTRINSIC
XTALbg	430	516	2.78e-4	SMART
Pfam:Crystall	536	599	3.3e-7	PFAM
XTALbg	614	699	1.2e-21	SMART
XTALbg	707	790	5.73e-19	SMART
XTALbg	803	881	6.87e-5	SMART
XTALbg	889	969	1.28e-7	SMART
RICIN	972	1104	8.16e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139989

SMART Domains

Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723

Domain	Start	End	E-Value	Type
XTALbg	1	86	2.15e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172910
AA Change: S2139*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	G	T	6: 83,137,900 (GRCm39)	A9S	possibly damaging	Het
4930407I10Rik	C	G	15: 81,946,940 (GRCm39)	T279S	probably benign	Het
A830018L16Rik	A	G	1: 11,582,140 (GRCm39)		probably null	Het
Abcg5	T	G	17: 84,976,392 (GRCm39)	I482L	probably benign	Het
Adgrf5	T	A	17: 43,748,462 (GRCm39)	D44E	probably damaging	Het
Amh	A	G	10: 80,641,305 (GRCm39)	N75S	probably benign	Het
Arl8a	T	C	1: 135,080,606 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,784,480 (GRCm39)	Y63H	possibly damaging	Het
Chd5	A	T	4: 152,463,878 (GRCm39)	E1449V	probably null	Het
Chml	A	G	1: 175,515,594 (GRCm39)	V109A	probably benign	Het
Cyp2c68	T	C	19: 39,722,780 (GRCm39)	D256G	probably damaging	Het
Dchs2	G	T	3: 83,253,534 (GRCm39)	V2315L	probably damaging	Het
Ddx20	T	C	3: 105,590,736 (GRCm39)	I227V	possibly damaging	Het
Drg2	T	C	11: 60,353,451 (GRCm39)	V266A	possibly damaging	Het
Flcn	C	A	11: 59,683,448 (GRCm39)	E576D	probably benign	Het
Fstl5	T	A	3: 76,317,899 (GRCm39)	D188E	probably damaging	Het
Gm14496	A	G	2: 181,639,323 (GRCm39)	Q471R	probably benign	Het
Gm43772	T	C	5: 66,332,334 (GRCm39)		probably benign	Het
Gpc6	C	T	14: 118,188,673 (GRCm39)	H436Y	probably damaging	Het
Gpr179	A	T	11: 97,226,628 (GRCm39)	C1842*	probably null	Het
Ints8	G	A	4: 11,208,845 (GRCm39)	T934I	possibly damaging	Het
Iqsec1	G	T	6: 90,637,969 (GRCm39)	C1050*	probably null	Het
Larp4b	T	C	13: 9,218,793 (GRCm39)	V510A	probably benign	Het
Map3k13	A	T	16: 21,723,933 (GRCm39)	D305V	possibly damaging	Het
Mc5r	A	T	18: 68,472,318 (GRCm39)	I226F	possibly damaging	Het
Mme	G	A	3: 63,250,929 (GRCm39)	W323*	probably null	Het
Mrpl24	A	G	3: 87,829,705 (GRCm39)	Y97C	probably benign	Het
Mslnl	G	A	17: 25,965,749 (GRCm39)	S541N	probably benign	Het
Npepl1	T	C	2: 173,962,850 (GRCm39)	V412A	probably benign	Het
Nrg3	T	A	14: 39,194,409 (GRCm39)	K117*	probably null	Het
Or11j4	G	T	14: 50,630,948 (GRCm39)	C245F	probably damaging	Het
Or4f52	T	C	2: 111,061,275 (GRCm39)	T288A	probably benign	Het
Orc2	A	T	1: 58,506,851 (GRCm39)	M447K	probably benign	Het
Phf3	A	T	1: 30,843,426 (GRCm39)	H1844Q	probably damaging	Het
Plxnc1	T	C	10: 94,629,152 (GRCm39)	I1541V	possibly damaging	Het
Rapgef4	T	C	2: 72,010,293 (GRCm39)	Y284H	possibly damaging	Het
Rnf180	C	A	13: 105,317,957 (GRCm39)		probably null	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slc4a10	A	G	2: 62,099,216 (GRCm39)	M625V	probably benign	Het
Synpo	T	A	18: 60,736,687 (GRCm39)	M420L	probably benign	Het
Tmem116	A	C	5: 121,655,955 (GRCm39)	*147C	probably null	Het
Top2b	G	A	14: 16,423,779 (GRCm38)		probably null	Het
Trp53bp2	T	A	1: 182,283,305 (GRCm39)	C1014S	probably damaging	Het
Unc5b	A	G	10: 60,601,139 (GRCm39)	F896L	probably damaging	Het
Vil1	T	C	1: 74,459,026 (GRCm39)	W177R	probably damaging	Het
Vmn2r107	A	T	17: 20,595,316 (GRCm39)	Y623F	probably benign	Het
Vmn2r86	T	C	10: 130,289,535 (GRCm39)	Y120C	probably damaging	Het
Wdr18	A	G	10: 79,801,177 (GRCm39)	T197A	possibly damaging	Het
Ylpm1	A	G	12: 85,076,064 (GRCm39)	M472V	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp677	A	G	17: 21,617,918 (GRCm39)	Y325C	probably damaging	Het
Zfyve1	A	G	12: 83,605,478 (GRCm39)	F407S	probably damaging	Het

Other mutations in Crybg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Crybg3	APN	16	59,350,803 (GRCm39)	missense	probably benign	0.15
IGL01305:Crybg3	APN	16	59,349,590 (GRCm39)	missense	probably damaging	1.00
IGL01809:Crybg3	APN	16	59,345,216 (GRCm39)	critical splice donor site	probably benign	0.00
IGL02247:Crybg3	APN	16	59,323,513 (GRCm39)	missense	probably damaging	1.00
IGL02252:Crybg3	APN	16	59,372,887 (GRCm39)	splice site	probably benign
IGL03036:Crybg3	APN	16	59,375,542 (GRCm39)	missense	possibly damaging	0.68
IGL03202:Crybg3	APN	16	59,315,072 (GRCm39)	missense	probably damaging	1.00
IGL03232:Crybg3	APN	16	59,350,731 (GRCm39)	missense	probably damaging	1.00
ANU22:Crybg3	UTSW	16	59,349,590 (GRCm39)	missense	probably damaging	1.00
R0052:Crybg3	UTSW	16	59,386,019 (GRCm39)	splice site	probably benign
R0335:Crybg3	UTSW	16	59,364,503 (GRCm39)	missense	probably damaging	1.00
R0691:Crybg3	UTSW	16	59,385,574 (GRCm39)	critical splice donor site	probably null
R1511:Crybg3	UTSW	16	59,374,475 (GRCm39)	missense	probably benign	0.01
R1579:Crybg3	UTSW	16	59,350,561 (GRCm39)	missense	probably damaging	1.00
R1965:Crybg3	UTSW	16	59,323,600 (GRCm39)	missense	probably damaging	1.00
R1982:Crybg3	UTSW	16	59,364,488 (GRCm39)	missense	possibly damaging	0.85
R2225:Crybg3	UTSW	16	59,375,041 (GRCm39)	missense	probably damaging	1.00
R4074:Crybg3	UTSW	16	59,376,120 (GRCm39)	unclassified	probably benign
R4210:Crybg3	UTSW	16	59,364,414 (GRCm39)	missense	probably damaging	1.00
R4393:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4394:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4397:Crybg3	UTSW	16	59,380,458 (GRCm39)	unclassified	probably benign
R4427:Crybg3	UTSW	16	59,363,562 (GRCm39)	missense	probably damaging	1.00
R4578:Crybg3	UTSW	16	59,350,564 (GRCm39)	missense	probably damaging	1.00
R4720:Crybg3	UTSW	16	59,360,180 (GRCm39)	missense	probably damaging	1.00
R4917:Crybg3	UTSW	16	59,350,782 (GRCm39)	missense	probably benign	0.14
R5007:Crybg3	UTSW	16	59,378,463 (GRCm39)	unclassified	probably benign
R5020:Crybg3	UTSW	16	59,375,159 (GRCm39)	missense	possibly damaging	0.55
R5155:Crybg3	UTSW	16	59,345,264 (GRCm39)	missense	possibly damaging	0.91
R5306:Crybg3	UTSW	16	59,380,356 (GRCm39)	unclassified	probably benign
R5342:Crybg3	UTSW	16	59,342,512 (GRCm39)	missense	probably damaging	1.00
R5687:Crybg3	UTSW	16	59,379,529 (GRCm39)	missense	probably benign	0.00
R5763:Crybg3	UTSW	16	59,374,973 (GRCm39)	missense	possibly damaging	0.74
R5860:Crybg3	UTSW	16	59,385,632 (GRCm39)	missense	probably damaging	1.00
R5950:Crybg3	UTSW	16	59,313,934 (GRCm39)	unclassified	probably benign
R6042:Crybg3	UTSW	16	59,370,838 (GRCm39)	missense	possibly damaging	0.70
R6049:Crybg3	UTSW	16	59,364,417 (GRCm39)	missense	probably benign	0.00
R6242:Crybg3	UTSW	16	59,376,053 (GRCm39)	missense	probably benign
R6301:Crybg3	UTSW	16	59,350,701 (GRCm39)	missense	probably damaging	1.00
R6408:Crybg3	UTSW	16	59,316,053 (GRCm39)	missense	possibly damaging	0.71
R6724:Crybg3	UTSW	16	59,364,501 (GRCm39)	missense	probably benign	0.13
R6745:Crybg3	UTSW	16	59,372,607 (GRCm39)	missense	possibly damaging	0.93
R6777:Crybg3	UTSW	16	59,378,678 (GRCm39)	unclassified	probably benign
R6843:Crybg3	UTSW	16	59,380,159 (GRCm39)	missense	probably benign	0.22
R6914:Crybg3	UTSW	16	59,360,183 (GRCm39)	missense	possibly damaging	0.89
R6942:Crybg3	UTSW	16	59,360,183 (GRCm39)	missense	possibly damaging	0.89
R7033:Crybg3	UTSW	16	59,374,528 (GRCm39)	missense	probably damaging	1.00
R7091:Crybg3	UTSW	16	59,377,531 (GRCm39)	missense	possibly damaging	0.77
R7133:Crybg3	UTSW	16	59,357,167 (GRCm39)	missense	probably damaging	1.00
R7193:Crybg3	UTSW	16	59,379,956 (GRCm39)	missense	possibly damaging	0.87
R7204:Crybg3	UTSW	16	59,379,253 (GRCm39)	missense	probably benign	0.00
R7398:Crybg3	UTSW	16	59,377,688 (GRCm39)	missense	probably benign	0.38
R7666:Crybg3	UTSW	16	59,379,700 (GRCm39)	nonsense	probably null
R7691:Crybg3	UTSW	16	59,376,497 (GRCm39)	missense	not run
R7714:Crybg3	UTSW	16	59,379,236 (GRCm39)	missense	probably benign	0.19
R7860:Crybg3	UTSW	16	59,375,605 (GRCm39)	missense	probably benign	0.04
R7901:Crybg3	UTSW	16	59,377,907 (GRCm39)	missense	probably damaging	0.98
R8371:Crybg3	UTSW	16	59,377,414 (GRCm39)	missense	probably benign	0.00
R8394:Crybg3	UTSW	16	59,378,651 (GRCm39)	missense	probably benign	0.06
R8438:Crybg3	UTSW	16	59,385,655 (GRCm39)	missense	probably benign	0.02
R8529:Crybg3	UTSW	16	59,376,984 (GRCm39)	missense	probably damaging	0.98
R8699:Crybg3	UTSW	16	59,375,291 (GRCm39)	missense	probably damaging	1.00
R8766:Crybg3	UTSW	16	59,375,696 (GRCm39)	missense	probably benign	0.05
R8767:Crybg3	UTSW	16	59,376,500 (GRCm39)	missense	probably benign
R8789:Crybg3	UTSW	16	59,375,359 (GRCm39)	missense	probably benign	0.00
R8871:Crybg3	UTSW	16	59,378,519 (GRCm39)	missense	probably benign
R8878:Crybg3	UTSW	16	59,380,547 (GRCm39)	missense	probably benign	0.09
R8894:Crybg3	UTSW	16	59,342,552 (GRCm39)	missense	probably damaging	0.97
R8928:Crybg3	UTSW	16	59,376,715 (GRCm39)	missense	probably benign	0.40
R8928:Crybg3	UTSW	16	59,315,123 (GRCm39)	missense	probably benign	0.31
R8939:Crybg3	UTSW	16	59,376,512 (GRCm39)	missense	probably benign	0.00
R9010:Crybg3	UTSW	16	59,374,702 (GRCm39)	missense	probably damaging	0.98
R9266:Crybg3	UTSW	16	59,372,544 (GRCm39)	missense	probably damaging	0.99
R9348:Crybg3	UTSW	16	59,421,256 (GRCm39)	start codon destroyed	probably null	0.66
R9353:Crybg3	UTSW	16	59,421,107 (GRCm39)	critical splice donor site	probably null
R9406:Crybg3	UTSW	16	59,378,839 (GRCm39)	missense	probably benign	0.42
R9429:Crybg3	UTSW	16	59,375,556 (GRCm39)	missense	probably benign	0.08
R9464:Crybg3	UTSW	16	59,376,120 (GRCm39)	unclassified	probably benign
R9621:Crybg3	UTSW	16	59,326,613 (GRCm39)	missense	possibly damaging	0.73
R9703:Crybg3	UTSW	16	59,375,939 (GRCm39)	missense	probably damaging	0.96
R9751:Crybg3	UTSW	16	59,377,887 (GRCm39)	missense	possibly damaging	0.55
R9766:Crybg3	UTSW	16	59,376,207 (GRCm39)	missense	probably benign	0.03
RF007:Crybg3	UTSW	16	59,377,067 (GRCm39)	missense	possibly damaging	0.94
Z1177:Crybg3	UTSW	16	59,376,841 (GRCm39)	missense	probably benign	0.09
Z1177:Crybg3	UTSW	16	59,375,756 (GRCm39)	nonsense	probably null
Z1187:Crybg3	UTSW	16	59,326,608 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCTGACCACCGGCCATG -3'
(R):5'- GGTACAAAATCTATCCCTTAGCCC -3'

Sequencing Primer
(F):5'- ATGCTGCAGACTGGAGGTC -3'
(R):5'- CCCATCTATGAGGATGACAGTTCG -3'

Posted On

2017-06-26