Mutagenetix > Incidental Mutation

Incidental Mutation 'R7556:Cryba4'

584759

Institutional Source

Beutler Lab

Gene Symbol

Cryba4

Ensembl Gene

ENSMUSG00000066975

Gene Name

crystallin, beta A4

Synonyms

MMRRC Submission

045624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112394359-112400384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112398969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 25 (R25Q)

Ref Sequence

ENSEMBL: ENSMUSP00000083826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031286] [ENSMUST00000086629] [ENSMUST00000112375] [ENSMUST00000112383] [ENSMUST00000112385] [ENSMUST00000131673]

AlphaFold

Q9JJV0

Predicted Effect

probably benign
Transcript: ENSMUST00000031286

SMART Domains

Protein: ENSMUSP00000031286
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086629
AA Change: R25Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975
AA Change: R25Q

Domain	Start	End	E-Value	Type
XTALbg	13	97	1.08e-37	SMART
XTALbg	106	194	2.59e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112375

SMART Domains

Protein: ENSMUSP00000107994
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112383
AA Change: R12Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975
AA Change: R12Q

Domain	Start	End	E-Value	Type
XTALbg	1	84	1.71e-35	SMART
XTALbg	93	181	2.59e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112385
AA Change: R25Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975
AA Change: R25Q

Domain	Start	End	E-Value	Type
XTALbg	13	97	1.08e-37	SMART
XTALbg	106	194	2.59e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131673

SMART Domains

Protein: ENSMUSP00000118399
Gene: ENSMUSG00000029343

Domain	Start	End	E-Value	Type
low complexity region	19	47	N/A	INTRINSIC
XTALbg	58	140	9.71e-40	SMART
XTALbg	148	230	5.8e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,221,611 (GRCm39)	W11*	probably null	Het
A2ml1	A	G	6: 128,546,927 (GRCm39)	S401P	probably damaging	Het
Adamtsl1	T	A	4: 86,195,358 (GRCm39)	Y592N	probably benign	Het
Adh6b	C	T	3: 138,058,546 (GRCm39)	T76I	probably damaging	Het
Aebp2	C	A	6: 140,623,137 (GRCm39)	P503Q	probably benign	Het
Ankrd2	A	G	19: 42,028,839 (GRCm39)	D134G		Het
Atf7ip	T	C	6: 136,538,239 (GRCm39)	S491P	probably damaging	Het
Atp1a3	T	C	7: 24,680,991 (GRCm39)	D832G	probably benign	Het
Atrnl1	G	A	19: 57,643,278 (GRCm39)	V389I	probably benign	Het
Bahcc1	T	C	11: 120,178,589 (GRCm39)	S2383P	probably damaging	Het
Brd9	A	G	13: 74,092,886 (GRCm39)	D292G	possibly damaging	Het
Cacna1e	G	T	1: 154,348,419 (GRCm39)	Q781K	probably benign	Het
Ccdc9	T	C	7: 16,018,491 (GRCm39)		probably benign	Het
Cdc42ep4	C	G	11: 113,619,366 (GRCm39)	E342Q	probably damaging	Het
Celf3	C	T	3: 94,387,590 (GRCm39)	T54M	probably damaging	Het
Cenpn	T	C	8: 117,664,008 (GRCm39)	Y267H	probably damaging	Het
Chrnb4	T	C	9: 54,942,339 (GRCm39)	T312A	probably benign	Het
Clcn3	T	A	8: 61,382,521 (GRCm39)	T383S	probably damaging	Het
Cln3	T	C	7: 126,174,242 (GRCm39)	Q327R	probably damaging	Het
Cnep1r1	T	C	8: 88,851,761 (GRCm39)	L50P	probably damaging	Het
Cnot6	T	C	11: 49,566,144 (GRCm39)	N512S	probably benign	Het
Col7a1	T	A	9: 108,811,533 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,290,389 (GRCm39)	I1260V	probably null	Het
Dock2	G	T	11: 34,611,778 (GRCm39)	T195K	probably benign	Het
Dpp9	A	T	17: 56,497,012 (GRCm39)	I740N	possibly damaging	Het
Fbxl21	A	T	13: 56,674,741 (GRCm39)	N31Y	probably benign	Het
Frat1	G	A	19: 41,818,959 (GRCm39)	R118Q	possibly damaging	Het
Gna11	A	G	10: 81,367,208 (GRCm39)	F228S		Het
Golgb1	A	T	16: 36,736,155 (GRCm39)	M1842L	probably benign	Het
Got1	A	T	19: 43,491,469 (GRCm39)	M327K	probably damaging	Het
H4c9	A	G	13: 22,225,414 (GRCm39)	I27T	probably damaging	Het
Hexa	T	A	9: 59,470,582 (GRCm39)	L468Q	probably damaging	Het
Ift57	G	A	16: 49,526,491 (GRCm39)	V178I	probably benign	Het
Kbtbd13	T	C	9: 65,298,757 (GRCm39)	T60A	probably benign	Het
Klk1b5	A	G	7: 43,496,649 (GRCm39)	T194A	probably damaging	Het
Krtap16-3	C	A	16: 88,759,666 (GRCm39)	G16C	unknown	Het
Lamb3	T	C	1: 193,014,757 (GRCm39)	S639P	probably benign	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mcf2l	A	G	8: 13,023,071 (GRCm39)	T86A	probably damaging	Het
Mecom	G	T	3: 30,041,220 (GRCm39)	H125N	probably benign	Het
Med18	T	C	4: 132,187,247 (GRCm39)	H84R	probably benign	Het
Muc2	A	G	7: 141,307,439 (GRCm39)	Y798C		Het
Mycbp	T	C	4: 123,799,060 (GRCm39)	Y17H	probably damaging	Het
Nacad	C	T	11: 6,551,272 (GRCm39)	V640M	possibly damaging	Het
Ncoa1	C	T	12: 4,320,794 (GRCm39)	V1092I	probably damaging	Het
Nomo1	A	G	7: 45,715,642 (GRCm39)	E696G	probably damaging	Het
Notch4	G	A	17: 34,794,444 (GRCm39)	C741Y	probably damaging	Het
Or10g7	A	G	9: 39,905,978 (GRCm39)	N291D	probably damaging	Het
Or6d12	C	T	6: 116,493,697 (GRCm39)	Q320*	probably null	Het
Osbpl10	C	A	9: 115,036,692 (GRCm39)	H229Q	probably damaging	Het
Pif1	A	T	9: 65,496,993 (GRCm39)		probably null	Het
Plk2	T	G	13: 110,533,122 (GRCm39)		probably null	Het
Ppp1r42	T	C	1: 10,065,408 (GRCm39)	H172R	probably benign	Het
Ring1	A	G	17: 34,240,688 (GRCm39)	I363T	possibly damaging	Het
Rnf168	T	G	16: 32,117,863 (GRCm39)	Y475D	probably damaging	Het
Sbf2	T	A	7: 109,913,260 (GRCm39)	K1671N	probably benign	Het
Sema6d	A	G	2: 124,496,109 (GRCm39)	N51S	probably damaging	Het
Setx	C	A	2: 29,036,505 (GRCm39)	Q997K	possibly damaging	Het
Skint5	T	G	4: 113,425,162 (GRCm39)	Q1088P	unknown	Het
Slc22a27	T	C	19: 7,843,119 (GRCm39)	D528G	probably damaging	Het
Slc6a7	T	A	18: 61,140,514 (GRCm39)	K173*	probably null	Het
Smc2	T	C	4: 52,457,379 (GRCm39)	F380L	probably benign	Het
Spata31d1a	T	C	13: 59,849,798 (GRCm39)	M777V	probably benign	Het
Stkld1	A	T	2: 26,837,307 (GRCm39)	N319I	possibly damaging	Het
Tanc2	T	C	11: 105,799,857 (GRCm39)	V93A		Het
Tbx20	T	C	9: 24,661,573 (GRCm39)		probably null	Het
Trbv20	G	A	6: 41,165,715 (GRCm39)	V47I	probably benign	Het
Trip4	A	T	9: 65,782,155 (GRCm39)	C192*	probably null	Het
Tsbp1	A	T	17: 34,656,691 (GRCm39)	I103F	unknown	Het
Tulp2	A	G	7: 45,168,005 (GRCm39)		probably null	Het
Ush2a	C	A	1: 188,689,690 (GRCm39)	P5084Q	probably benign	Het
Virma	T	C	4: 11,518,927 (GRCm39)	Y675H	probably damaging	Het
Vmn2r102	T	A	17: 19,898,093 (GRCm39)	N369K	probably benign	Het
Vmn2r59	A	T	7: 41,695,233 (GRCm39)	M393K	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Xpot	A	G	10: 121,449,411 (GRCm39)	S30P	probably benign	Het
Zfp947	T	C	17: 22,364,597 (GRCm39)	Y359C	probably benign	Het

Other mutations in Cryba4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Cryba4	APN	5	112,398,875 (GRCm39)	unclassified	probably benign
R0741:Cryba4	UTSW	5	112,394,554 (GRCm39)	missense	probably damaging	1.00
R5622:Cryba4	UTSW	5	112,398,990 (GRCm39)	missense	probably damaging	1.00
R5811:Cryba4	UTSW	5	112,398,937 (GRCm39)	missense	probably benign
R6644:Cryba4	UTSW	5	112,394,628 (GRCm39)	missense	probably damaging	1.00
R7008:Cryba4	UTSW	5	112,399,648 (GRCm39)	missense	probably benign
R7554:Cryba4	UTSW	5	112,398,969 (GRCm39)	missense	probably damaging	0.99
R7671:Cryba4	UTSW	5	112,396,039 (GRCm39)	critical splice donor site	probably null
R7888:Cryba4	UTSW	5	112,398,918 (GRCm39)	missense	probably benign	0.01
R9161:Cryba4	UTSW	5	112,396,039 (GRCm39)	critical splice donor site	probably null
R9393:Cryba4	UTSW	5	112,394,632 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGCAAGCCTGGAAAGATGTAC -3'
(R):5'- CAAAATTGTGCTGTCCAGGATCC -3'

Sequencing Primer
(F):5'- GATGTACCTAGGATCATACACAGGC -3'
(R):5'- GATCCCACGGTCCACCTTG -3'

Posted On

2019-10-17