Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01600:Egflam'

92134

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

pikachurin, nectican

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01600

Quality Score

Status

Chromosome

Chromosomal Location

7235601-7427876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7249245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 858 (S858P)

Ref Sequence

ENSEMBL: ENSMUSP00000094238 (fasta)

Gene Model

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

AlphaFold

Q4VBE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000058593
AA Change: S850P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: S850P

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 damaging
Transcript: ENSMUST00000096494
AA Change: S858P

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

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: S858P

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: ENSMUST00000160314

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	C	A	8: 22,517,541 (GRCm39)		probably null	Het
Ccr7	A	G	11: 99,035,971 (GRCm39)	V317A	probably benign	Het
Dna2	T	A	10: 62,786,585 (GRCm39)	I111K	probably damaging	Het
Glt28d2	T	C	3: 85,779,290 (GRCm39)	Y61C	probably damaging	Het
Kbtbd12	C	T	6: 88,595,540 (GRCm39)	A97T	probably benign	Het
Myh4	A	G	11: 67,151,015 (GRCm39)	E1890G	possibly damaging	Het
Notch3	C	A	17: 32,363,472 (GRCm39)	G1197V	probably damaging	Het
Or4c10b	A	T	2: 89,712,006 (GRCm39)	M279L	probably benign	Het
Pcdh10	A	T	3: 45,333,922 (GRCm39)	I79L	probably damaging	Het
Runx1t1	T	A	4: 13,841,871 (GRCm39)	V181D	probably damaging	Het
Snx25	A	T	8: 46,569,347 (GRCm39)	D183E	probably benign	Het
Srsf11	G	A	3: 157,725,079 (GRCm39)		probably benign	Het
Tox	A	G	4: 6,697,585 (GRCm39)	V406A	probably damaging	Het
Vmn2r68	T	A	7: 84,871,468 (GRCm39)	H605L	probably benign	Het

Other mutations in Egflam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02352:Egflam	APN	15	7,263,706 (GRCm39)	missense	probably benign	0.01
IGL02359:Egflam	APN	15	7,263,706 (GRCm39)	missense	probably benign	0.01
IGL02389:Egflam	APN	15	7,279,559 (GRCm39)	missense	probably benign	0.01
IGL02400:Egflam	APN	15	7,276,534 (GRCm39)	missense	probably benign	0.00
IGL02530:Egflam	APN	15	7,252,293 (GRCm39)	missense	probably damaging	1.00
IGL02892:Egflam	APN	15	7,319,277 (GRCm39)	missense	probably benign
R0047:Egflam	UTSW	15	7,282,911 (GRCm39)	missense	possibly damaging	0.56
R0047:Egflam	UTSW	15	7,282,911 (GRCm39)	missense	possibly damaging	0.56
R0345:Egflam	UTSW	15	7,319,475 (GRCm39)	splice site	probably null
R0504:Egflam	UTSW	15	7,252,239 (GRCm39)	missense	probably damaging	1.00
R0532:Egflam	UTSW	15	7,263,718 (GRCm39)	missense	probably benign	0.19
R0573:Egflam	UTSW	15	7,271,906 (GRCm39)	nonsense	probably null
R0609:Egflam	UTSW	15	7,283,004 (GRCm39)	missense	possibly damaging	0.65
R0648:Egflam	UTSW	15	7,237,190 (GRCm39)	missense	probably damaging	1.00
R0653:Egflam	UTSW	15	7,279,509 (GRCm39)	critical splice donor site	probably null
R1099:Egflam	UTSW	15	7,281,903 (GRCm39)	missense	probably benign	0.00
R1711:Egflam	UTSW	15	7,319,396 (GRCm39)	missense	possibly damaging	0.85
R1842:Egflam	UTSW	15	7,333,422 (GRCm39)	missense	probably benign	0.00
R1964:Egflam	UTSW	15	7,276,586 (GRCm39)	missense	probably damaging	0.97
R2001:Egflam	UTSW	15	7,272,048 (GRCm39)	missense	probably benign	0.18
R2008:Egflam	UTSW	15	7,267,285 (GRCm39)	missense	possibly damaging	0.95
R2134:Egflam	UTSW	15	7,263,760 (GRCm39)	missense	probably damaging	0.97
R2852:Egflam	UTSW	15	7,249,182 (GRCm39)	missense	probably damaging	1.00
R2853:Egflam	UTSW	15	7,249,182 (GRCm39)	missense	probably damaging	1.00
R4257:Egflam	UTSW	15	7,283,907 (GRCm39)	splice site	probably null
R4346:Egflam	UTSW	15	7,263,759 (GRCm39)	nonsense	probably null
R4380:Egflam	UTSW	15	7,273,350 (GRCm39)	missense	possibly damaging	0.70
R4538:Egflam	UTSW	15	7,281,918 (GRCm39)	missense	probably damaging	1.00
R4746:Egflam	UTSW	15	7,254,120 (GRCm39)	splice site	probably null
R4909:Egflam	UTSW	15	7,249,110 (GRCm39)	missense	probably damaging	1.00
R5027:Egflam	UTSW	15	7,283,125 (GRCm39)	missense	probably benign	0.00
R5314:Egflam	UTSW	15	7,333,493 (GRCm39)	missense	probably damaging	1.00
R5439:Egflam	UTSW	15	7,254,144 (GRCm39)	missense	probably damaging	0.99
R5495:Egflam	UTSW	15	7,280,722 (GRCm39)	missense	probably damaging	1.00
R5626:Egflam	UTSW	15	7,280,688 (GRCm39)	missense	possibly damaging	0.89
R5931:Egflam	UTSW	15	7,273,338 (GRCm39)	missense	possibly damaging	0.49
R5977:Egflam	UTSW	15	7,347,726 (GRCm39)	missense	possibly damaging	0.94
R6258:Egflam	UTSW	15	7,263,773 (GRCm39)	missense	probably damaging	0.98
R6395:Egflam	UTSW	15	7,261,176 (GRCm39)	missense	probably damaging	1.00
R6497:Egflam	UTSW	15	7,280,784 (GRCm39)	splice site	probably null
R6736:Egflam	UTSW	15	7,249,206 (GRCm39)	missense	probably damaging	1.00
R7586:Egflam	UTSW	15	7,238,082 (GRCm39)	missense	probably damaging	1.00
R7764:Egflam	UTSW	15	7,347,736 (GRCm39)	missense	probably damaging	0.98
R7781:Egflam	UTSW	15	7,283,227 (GRCm39)	missense	probably null	0.94
R7842:Egflam	UTSW	15	7,280,675 (GRCm39)	missense	probably null	1.00
R8011:Egflam	UTSW	15	7,276,525 (GRCm39)	missense	possibly damaging	0.89
R8080:Egflam	UTSW	15	7,427,561 (GRCm39)	missense	probably benign	0.09
R8175:Egflam	UTSW	15	7,241,633 (GRCm39)	missense	probably damaging	1.00
R8300:Egflam	UTSW	15	7,283,932 (GRCm39)	missense	possibly damaging	0.77
R8553:Egflam	UTSW	15	7,237,229 (GRCm39)	missense	probably damaging	1.00
R8880:Egflam	UTSW	15	7,267,249 (GRCm39)	missense	probably damaging	0.98
R9076:Egflam	UTSW	15	7,237,155 (GRCm39)	missense	probably damaging	1.00
R9216:Egflam	UTSW	15	7,281,942 (GRCm39)	missense	probably benign	0.02
R9518:Egflam	UTSW	15	7,319,263 (GRCm39)	critical splice donor site	probably null
R9557:Egflam	UTSW	15	7,241,656 (GRCm39)	missense	probably damaging	1.00
R9745:Egflam	UTSW	15	7,333,419 (GRCm39)	missense	probably benign	0.38
R9800:Egflam	UTSW	15	7,279,525 (GRCm39)	missense	probably benign	0.01
X0024:Egflam	UTSW	15	7,333,494 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09