Mutagenetix > Incidental Mutation

Incidental Mutation 'R4346:Egflam'

324340

Institutional Source

Beutler Lab

Gene Symbol

Egflam

Ensembl Gene

ENSMUSG00000042961

Gene Name

EGF-like, fibronectin type III and laminin G domains

Synonyms

pikachurin, nectican

MMRRC Submission

041667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7235601-7427876 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 7263759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 730 (C730*)

Ref Sequence

ENSEMBL: ENSMUSP00000094238 (fasta)

Gene Model

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

AlphaFold

Q4VBE4

Predicted Effect

probably null
Transcript: ENSMUST00000058593
AA Change: C730*

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: C730*

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 null
Transcript: ENSMUST00000096494
AA Change: C730*

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: C730*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (31/31)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	G	A	2: 154,887,651 (GRCm39)	R37Q	probably benign	Het
Adam12	T	C	7: 133,583,264 (GRCm39)	T128A	possibly damaging	Het
Dnah8	A	T	17: 30,944,072 (GRCm39)	Q1763L	possibly damaging	Het
Dvl3	G	A	16: 20,350,049 (GRCm39)	R645H	possibly damaging	Het
Fbxo40	T	C	16: 36,790,525 (GRCm39)	E195G	probably benign	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gba2	A	G	4: 43,571,337 (GRCm39)	V204A	probably benign	Het
Igkv8-28	C	T	6: 70,121,096 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,988,357 (GRCm39)	M308T	probably damaging	Het
Map1a	A	G	2: 121,131,806 (GRCm39)	N874S	probably benign	Het
Med12l	A	T	3: 58,938,976 (GRCm39)	T37S	probably damaging	Het
Ogfod2	A	G	5: 124,251,357 (GRCm39)	Y57C	probably damaging	Het
Or5b94	A	G	19: 12,651,592 (GRCm39)	T8A	probably benign	Het
Plxnd1	A	G	6: 115,954,941 (GRCm39)	V607A	probably benign	Het
Pnpt1	A	G	11: 29,095,478 (GRCm39)	D409G	probably damaging	Het
Pycr3	G	A	15: 75,790,580 (GRCm39)	T93I	probably damaging	Het
Ros1	A	G	10: 52,044,705 (GRCm39)	Y201H	possibly damaging	Het
Scart2	G	A	7: 139,827,878 (GRCm39)	V29M	probably damaging	Het
Slc25a54	A	G	3: 109,010,055 (GRCm39)	T185A	possibly damaging	Het
Smarcc2	A	G	10: 128,304,692 (GRCm39)	I221V	probably benign	Het
Tnfrsf19	C	A	14: 61,209,429 (GRCm39)		probably null	Het
Ttll11	T	C	2: 35,674,130 (GRCm39)	N599S	probably benign	Het
Ttn	T	G	2: 76,638,926 (GRCm39)	I13919L	probably damaging	Het
Vmn2r63	A	G	7: 42,577,537 (GRCm39)	F334L	possibly damaging	Het
Vps13d	A	G	4: 144,799,099 (GRCm39)		probably benign	Het
Zfp646	A	G	7: 127,478,681 (GRCm39)	Y286C	probably damaging	Het

Other mutations in Egflam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01600:Egflam	APN	15	7,249,245 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGGAACAGGTGTTTGG -3'
(R):5'- CAGTGATGTAGTCTGCACACAC -3'

Sequencing Primer
(F):5'- CAGGTGTTTGGAGAACTAGACTG -3'
(R):5'- GTGATGTAGTCTGCACACACATTCAG -3'

Posted On

2015-06-24