Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02425:Gldn'

292862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gldn

Ensembl Gene

ENSMUSG00000046167

Gene Name

gliomedin

Synonyms

CRG-L2, Crlg2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

IGL02425

Quality Score

Status

Chromosome

Chromosomal Location

54193770-54249061 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54246005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 519 (Y519N)

Ref Sequence

ENSEMBL: ENSMUSP00000056080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056740]

AlphaFold

Q8BMF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056740
AA Change: Y519N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056080
Gene: ENSMUSG00000046167
AA Change: Y519N

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Collagen	136	195	8.3e-11	PFAM
low complexity region	199	211	N/A	INTRINSIC
low complexity region	213	221	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
OLF	299	543	1.97e-35	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele fail to form heminodes without overt neurological abnormalities or alteration in nerve conduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430423G03Rik	A	G	5: 148,887,472 (GRCm39)		probably benign	Het
Adam4	C	T	12: 81,468,102 (GRCm39)	R173H	probably benign	Het
Akap12	A	G	10: 4,306,034 (GRCm39)	E948G	possibly damaging	Het
Akr1c12	T	C	13: 4,323,749 (GRCm39)	Y184C	probably damaging	Het
Avil	T	C	10: 126,854,316 (GRCm39)	V761A	probably benign	Het
Bahd1	T	A	2: 118,749,645 (GRCm39)	F480L	probably benign	Het
Bicral	T	C	17: 47,119,380 (GRCm39)	T714A	probably benign	Het
Cert1	T	C	13: 96,746,390 (GRCm39)	I263T	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2d34	C	T	15: 82,502,480 (GRCm39)	V219I	probably benign	Het
Dsn1	A	G	2: 156,838,667 (GRCm39)	V316A	probably damaging	Het
Errfi1	T	A	4: 150,950,813 (GRCm39)	F80L	probably benign	Het
Fam221b	A	G	4: 43,660,642 (GRCm39)		probably null	Het
Fgd6	G	A	10: 93,910,064 (GRCm39)	G790R	probably benign	Het
Fn1	T	C	1: 71,680,302 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,530,381 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,819 (GRCm39)	V380A	probably damaging	Het
Kcnab1	T	C	3: 65,209,600 (GRCm39)	Y154H	possibly damaging	Het
Lama1	T	C	17: 68,118,480 (GRCm39)	V2564A	probably benign	Het
Lca5	T	C	9: 83,281,774 (GRCm39)	T337A	probably damaging	Het
Lrp1	A	G	10: 127,407,756 (GRCm39)		probably null	Het
Moxd1	A	G	10: 24,155,334 (GRCm39)	N245S	probably benign	Het
Napepld	T	C	5: 21,888,440 (GRCm39)	E3G	probably benign	Het
Nr1d2	T	C	14: 18,222,011 (GRCm38)	T87A	probably benign	Het
Nudt4	T	A	10: 95,385,245 (GRCm39)	T149S	probably benign	Het
Rad18	A	T	6: 112,597,859 (GRCm39)	D219E	probably damaging	Het
Ryr2	T	C	13: 11,760,560 (GRCm39)	I1508V	probably damaging	Het
Setx	G	A	2: 29,038,420 (GRCm39)	S1635N	probably benign	Het
Slc6a19	A	G	13: 73,839,919 (GRCm39)	V121A	probably benign	Het
Snapc4	T	C	2: 26,258,212 (GRCm39)	D736G	probably damaging	Het
Spink5	T	C	18: 44,123,811 (GRCm39)		probably null	Het
Strip1	T	C	3: 107,521,962 (GRCm39)	I739V	probably benign	Het
Tmem161a	T	C	8: 70,629,577 (GRCm39)		probably null	Het
Top1mt	T	C	15: 75,547,970 (GRCm39)	T39A	probably benign	Het
Trpm1	T	C	7: 63,890,175 (GRCm39)	M926T	probably damaging	Het
Ttn	T	A	2: 76,587,624 (GRCm39)	K19744*	probably null	Het
Vmn2r26	A	G	6: 124,038,777 (GRCm39)	E784G	probably damaging	Het
Wnk1	A	G	6: 119,940,415 (GRCm39)	F774S	probably damaging	Het
Zfp317	T	A	9: 19,554,909 (GRCm39)	Y101*	probably null	Het

Other mutations in Gldn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Gldn	APN	9	54,245,748 (GRCm39)	missense	probably damaging	0.99
IGL01778:Gldn	APN	9	54,241,776 (GRCm39)	splice site	probably null
R2284:Gldn	UTSW	9	54,193,849 (GRCm39)	nonsense	probably null
R2902:Gldn	UTSW	9	54,243,098 (GRCm39)	missense	possibly damaging	0.84
R3055:Gldn	UTSW	9	54,245,807 (GRCm39)	missense	probably damaging	0.96
R3683:Gldn	UTSW	9	54,245,624 (GRCm39)	missense	possibly damaging	0.58
R3684:Gldn	UTSW	9	54,245,624 (GRCm39)	missense	possibly damaging	0.58
R3732:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3732:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3733:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R3734:Gldn	UTSW	9	54,245,946 (GRCm39)	missense	possibly damaging	0.76
R4668:Gldn	UTSW	9	54,239,302 (GRCm39)	nonsense	probably null
R5228:Gldn	UTSW	9	54,242,003 (GRCm39)	missense	probably damaging	0.98
R5574:Gldn	UTSW	9	54,220,206 (GRCm39)	missense	probably damaging	1.00
R5773:Gldn	UTSW	9	54,241,775 (GRCm39)	critical splice donor site	probably null
R5926:Gldn	UTSW	9	54,245,722 (GRCm39)	missense	possibly damaging	0.68
R5943:Gldn	UTSW	9	54,245,721 (GRCm39)	missense	possibly damaging	0.81
R6331:Gldn	UTSW	9	54,194,162 (GRCm39)	missense	probably benign	0.32
R6671:Gldn	UTSW	9	54,245,691 (GRCm39)	missense	probably damaging	1.00
R6821:Gldn	UTSW	9	54,246,054 (GRCm39)	missense	probably benign	0.01
R6897:Gldn	UTSW	9	54,242,158 (GRCm39)	splice site	probably null
R7579:Gldn	UTSW	9	54,245,648 (GRCm39)	missense	probably benign	0.21
R7604:Gldn	UTSW	9	54,245,877 (GRCm39)	missense	probably benign
R7705:Gldn	UTSW	9	54,245,976 (GRCm39)	missense	probably benign	0.00
R9036:Gldn	UTSW	9	54,245,747 (GRCm39)	missense	probably benign	0.00
R9672:Gldn	UTSW	9	54,245,780 (GRCm39)	missense	probably damaging	0.97
Z1177:Gldn	UTSW	9	54,193,944 (GRCm39)	missense	probably benign	0.37

Posted On

2015-04-16