Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02389:Egflam'

291684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egflam

Ensembl Gene

ENSMUSG00000042961

Gene Name

EGF-like, fibronectin type III and laminin G domains

Synonyms

nectican, pikachurin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

7206120-7398395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7250078 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 482 (N482K)

Ref Sequence

ENSEMBL: ENSMUSP00000094238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058593] [ENSMUST00000096494] [ENSMUST00000160207]

Predicted Effect

probably benign
Transcript: ENSMUST00000058593
AA Change: N482K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: N482K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FN3	35	123	4.52e-9	SMART
FN3	142	225	1.89e-11	SMART
low complexity region	256	273	N/A	INTRINSIC
EGF_like	346	381	4.28e1	SMART
LamG	407	543	1.04e-34	SMART
EGF	563	602	3.48e-5	SMART
LamG	633	767	1.55e-33	SMART
EGF	787	820	4.35e-6	SMART
LamG	852	988	1.47e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096494
AA Change: N482K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: N482K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FN3	35	123	4.52e-9	SMART
FN3	142	225	1.89e-11	SMART
low complexity region	256	273	N/A	INTRINSIC
EGF_like	346	381	4.28e1	SMART
LamG	407	543	1.04e-34	SMART
EGF	563	602	3.48e-5	SMART
LamG	633	767	1.55e-33	SMART
EGF	787	820	4.35e-6	SMART
LamG	860	996	1.47e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162105

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function. [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
0610040J01Rik	G	A	5: 63,896,483	S11N	probably null	Het
Aqp9	T	C	9: 71,122,906	I200V	possibly damaging	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740		probably benign	Het
Dscam	T	A	16: 96,640,897	I1577F	probably benign	Het
Fam216a	T	C	5: 122,367,511	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Gria2	T	C	3: 80,709,422	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608	M59T	probably benign	Het
Jakmip1	C	T	5: 37,100,843	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,403,424	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991		probably null	Het
Nlrp9c	T	A	7: 26,394,207	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070	M62K	probably benign	Het
Pdzd8	A	G	19: 59,301,393	I525T	probably benign	Het
Pign	A	T	1: 105,646,781	L280*	probably null	Het
Pik3r4	T	G	9: 105,650,331	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325		probably benign	Het
Sh3bp4	T	C	1: 89,145,148	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301		probably benign	Het
Slc26a8	T	A	17: 28,638,650	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864		probably benign	Het
Vmn1r34	A	T	6: 66,637,058	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446	C215S	probably damaging	Het
Zzef1	C	T	11: 72,891,217	P1995S	probably benign	Het
Zzef1	T	A	11: 72,899,538	V2106D	possibly damaging	Het

Other mutations in Egflam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Egflam	APN	15	7219764	missense	probably damaging	1.00
IGL02352:Egflam	APN	15	7234225	missense	probably benign	0.01
IGL02359:Egflam	APN	15	7234225	missense	probably benign	0.01
IGL02400:Egflam	APN	15	7247053	missense	probably benign	0.00
IGL02530:Egflam	APN	15	7222812	missense	probably damaging	1.00
IGL02892:Egflam	APN	15	7289796	missense	probably benign
R0047:Egflam	UTSW	15	7253430	missense	possibly damaging	0.56
R0047:Egflam	UTSW	15	7253430	missense	possibly damaging	0.56
R0345:Egflam	UTSW	15	7289994	splice site	probably null
R0504:Egflam	UTSW	15	7222758	missense	probably damaging	1.00
R0532:Egflam	UTSW	15	7234237	missense	probably benign	0.19
R0573:Egflam	UTSW	15	7242425	nonsense	probably null
R0609:Egflam	UTSW	15	7253523	missense	possibly damaging	0.65
R0648:Egflam	UTSW	15	7207709	missense	probably damaging	1.00
R0653:Egflam	UTSW	15	7250028	critical splice donor site	probably null
R1099:Egflam	UTSW	15	7252422	missense	probably benign	0.00
R1711:Egflam	UTSW	15	7289915	missense	possibly damaging	0.85
R1842:Egflam	UTSW	15	7303941	missense	probably benign	0.00
R1964:Egflam	UTSW	15	7247105	missense	probably damaging	0.97
R2001:Egflam	UTSW	15	7242567	missense	probably benign	0.18
R2008:Egflam	UTSW	15	7237804	missense	possibly damaging	0.95
R2134:Egflam	UTSW	15	7234279	missense	probably damaging	0.97
R2852:Egflam	UTSW	15	7219701	missense	probably damaging	1.00
R2853:Egflam	UTSW	15	7219701	missense	probably damaging	1.00
R4257:Egflam	UTSW	15	7254426	splice site	probably null
R4346:Egflam	UTSW	15	7234278	nonsense	probably null
R4380:Egflam	UTSW	15	7243869	missense	possibly damaging	0.70
R4538:Egflam	UTSW	15	7252437	missense	probably damaging	1.00
R4746:Egflam	UTSW	15	7224639	splice site	probably null
R4909:Egflam	UTSW	15	7219629	missense	probably damaging	1.00
R5027:Egflam	UTSW	15	7253644	missense	probably benign	0.00
R5314:Egflam	UTSW	15	7304012	missense	probably damaging	1.00
R5439:Egflam	UTSW	15	7224663	missense	probably damaging	0.99
R5495:Egflam	UTSW	15	7251241	missense	probably damaging	1.00
R5626:Egflam	UTSW	15	7251207	missense	possibly damaging	0.89
R5931:Egflam	UTSW	15	7243857	missense	possibly damaging	0.49
R5977:Egflam	UTSW	15	7318245	missense	possibly damaging	0.94
R6258:Egflam	UTSW	15	7234292	missense	probably damaging	0.98
R6395:Egflam	UTSW	15	7231695	missense	probably damaging	1.00
R6497:Egflam	UTSW	15	7251303	splice site	probably null
R6736:Egflam	UTSW	15	7219725	missense	probably damaging	1.00
R7586:Egflam	UTSW	15	7208601	missense	probably damaging	1.00
R7764:Egflam	UTSW	15	7318255	missense	probably damaging	0.98
R7781:Egflam	UTSW	15	7253746	missense	probably null	0.94
R7842:Egflam	UTSW	15	7251194	missense	probably null	1.00
R8011:Egflam	UTSW	15	7247044	missense	possibly damaging	0.89
R8080:Egflam	UTSW	15	7398080	missense	probably benign	0.09
R8175:Egflam	UTSW	15	7212152	missense	probably damaging	1.00
R8300:Egflam	UTSW	15	7254451	missense	possibly damaging	0.77
R8553:Egflam	UTSW	15	7207748	missense	probably damaging	1.00
X0024:Egflam	UTSW	15	7304013	missense	probably damaging	0.99

Posted On

2015-04-16