Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Crym'

534394

Institutional Source

Beutler Lab

Gene Symbol

Crym

Ensembl Gene

ENSMUSG00000030905

Gene Name

crystallin, mu

Synonyms

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119785603-119801212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119785868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 311 (S311A)

Ref Sequence

ENSEMBL: ENSMUSP00000033198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033198] [ENSMUST00000033201]

AlphaFold

O54983

PDB Structure

Crystal structure of the apo form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Crystal structure of the NADPH form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Cristal structure of the NADPH-T3 form of mouse Mu-crystallin. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000033198
AA Change: S311A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: S311A

Domain	Start	End	E-Value	Type
Pfam:OCD_Mu_crystall	3	313	7.1e-113	PFAM
Pfam:Shikimate_DH	124	227	7.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033201

SMART Domains

Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909

Domain	Start	End	E-Value	Type
ANK	31	60	1.03e-2	SMART
ANK	64	93	6.3e-7	SMART
ANK	97	126	3.69e2	SMART
coiled coil region	131	165	N/A	INTRINSIC
low complexity region	170	189	N/A	INTRINSIC
coiled coil region	303	335	N/A	INTRINSIC
SAM	346	411	6.52e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	possibly damaging	Het

Other mutations in Crym

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01562:Crym	APN	7	119,794,622 (GRCm39)	missense	probably damaging	0.98
IGL03355:Crym	APN	7	119,798,536 (GRCm39)	splice site	probably null
R0393:Crym	UTSW	7	119,788,972 (GRCm39)	missense	probably benign	0.00
R1538:Crym	UTSW	7	119,796,938 (GRCm39)	missense	probably benign	0.05
R2508:Crym	UTSW	7	119,801,050 (GRCm39)	missense	probably benign	0.08
R3836:Crym	UTSW	7	119,800,439 (GRCm39)	missense	probably benign	0.03
R4328:Crym	UTSW	7	119,794,562 (GRCm39)	missense	probably damaging	1.00
R4723:Crym	UTSW	7	119,800,298 (GRCm39)	critical splice donor site	probably null
R5046:Crym	UTSW	7	119,794,667 (GRCm39)	missense	possibly damaging	0.71
R5122:Crym	UTSW	7	119,794,718 (GRCm39)	missense	probably benign	0.00
R5266:Crym	UTSW	7	119,798,517 (GRCm39)	missense	probably benign	0.00
R5427:Crym	UTSW	7	119,798,445 (GRCm39)	unclassified	probably benign
R5567:Crym	UTSW	7	119,801,116 (GRCm39)	missense	probably benign	0.00
R5570:Crym	UTSW	7	119,801,116 (GRCm39)	missense	probably benign	0.00
R5704:Crym	UTSW	7	119,801,163 (GRCm39)	splice site	probably null
R7274:Crym	UTSW	7	119,789,742 (GRCm39)	missense	probably benign	0.03
R7536:Crym	UTSW	7	119,800,331 (GRCm39)	missense	probably damaging	1.00
R8062:Crym	UTSW	7	119,800,391 (GRCm39)	missense	probably damaging	1.00
R8281:Crym	UTSW	7	119,801,250 (GRCm39)	unclassified	probably benign
R8940:Crym	UTSW	7	119,794,703 (GRCm39)	missense	probably benign	0.16
R9015:Crym	UTSW	7	119,801,090 (GRCm39)	missense	probably benign
R9324:Crym	UTSW	7	119,789,005 (GRCm39)	missense	probably damaging	0.99
R9740:Crym	UTSW	7	119,794,661 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCAAGGGTAGATAATGTGGCC -3'
(R):5'- GAGTCTGGGCAAGCATTTATGG -3'

Sequencing Primer
(F):5'- GGTAGATAATGTGGCCATCACCC -3'
(R):5'- GGTTATCACTATGGACCTTAGCATGC -3'

Posted On

2018-09-12