Mutagenetix > Incidental Mutations

Incidental Mutation 'R4746:Egflam'

356753

Institutional Source

Beutler Lab

Gene Symbol

Egflam

Ensembl Gene

ENSMUSG00000042961

Gene Name

EGF-like, fibronectin type III and laminin G domains

Synonyms

nectican, pikachurin

MMRRC Submission

041968-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4746 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

7206120-7398395 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 7224639 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094238 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058593

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961

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

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,440,765	S180N	probably benign	Het
Atp5a1	G	T	18: 77,778,742	G165V	probably benign	Het
Cbfa2t2	A	C	2: 154,523,925	M352L	possibly damaging	Het
Ccser2	A	T	14: 36,909,125	D98E	probably damaging	Het
Cfap20	A	G	8: 95,422,056		probably null	Het
Chuk	A	T	19: 44,088,771	C379S	possibly damaging	Het
Cic	G	A	7: 25,288,480	G1531E	probably damaging	Het
Ckap4	A	G	10: 84,533,520	V116A	possibly damaging	Het
Cxcl13	A	G	5: 95,959,897	K71E	probably damaging	Het
Dmxl2	A	T	9: 54,451,796	I210N	probably benign	Het
Donson	A	C	16: 91,682,237	V397G	probably damaging	Het
Dpy19l1	C	A	9: 24,450,670	V332L	probably benign	Het
Dsp	T	C	13: 38,195,104	S1343P	possibly damaging	Het
Eif2b4	A	G	5: 31,187,653	I550T	probably damaging	Het
Fbxo47	A	T	11: 97,879,428	V46D	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gnb1	C	A	4: 155,543,074	A104E	probably damaging	Het
Gnptg	ATTGTTGATGATTT	AT	17: 25,235,597		probably benign	Het
Htra4	A	T	8: 25,033,697	V284E	probably damaging	Het
Igkv3-3	A	T	6: 70,687,324	D50V	probably benign	Het
Irs3	A	G	5: 137,643,947	S410P	probably benign	Het
Kif26b	C	T	1: 178,873,981	Q642*	probably null	Het
Klhl11	A	T	11: 100,464,350	M215K	probably benign	Het
Lamc3	A	G	2: 31,905,614	N337S	possibly damaging	Het
Lrrc55	G	A	2: 85,196,170	A170V	probably damaging	Het
March3	A	T	18: 56,776,072	W214R	probably damaging	Het
Megf11	A	C	9: 64,508,745	T79P	probably damaging	Het
Mia3	A	G	1: 183,345,220	V26A	possibly damaging	Het
Myrf	A	G	19: 10,218,591	F353S	probably damaging	Het
Obscn	A	G	11: 59,079,808		probably null	Het
Ocstamp	T	C	2: 165,396,288	K352R	probably benign	Het
Olfr721-ps1	A	T	14: 14,407,359	I46F	probably benign	Het
Olfr874	G	T	9: 37,746,157	V8L	probably benign	Het
Osbpl3	T	C	6: 50,328,674	N434S	probably damaging	Het
Pign	A	C	1: 105,585,024	L645V	probably benign	Het
Polr2a	A	G	11: 69,735,674	S1540P	probably benign	Het
Ppp2r3c	A	T	12: 55,302,635		probably null	Het
Ptprf	A	G	4: 118,225,039	V414A	possibly damaging	Het
Pyroxd2	G	A	19: 42,752,400	R22*	probably null	Het
Rab11fip2	G	A	19: 59,937,110	A225V	probably damaging	Het
Ranbp2	C	T	10: 58,492,670	A2836V	probably damaging	Het
Rimklb	G	A	6: 122,472,632	R28*	probably null	Het
Scyl3	G	A	1: 163,949,251	R404Q	probably damaging	Het
Slc9a8	A	T	2: 167,441,170	K79*	probably null	Het
Sowaha	A	T	11: 53,479,336		probably null	Het
Tnk1	A	G	11: 69,855,166	V311A	probably damaging	Het
Tnrc6a	T	A	7: 123,189,997	S1680T	probably damaging	Het
Tpp1	T	C	7: 105,748,951	Y335C	probably damaging	Het
Ttc39b	A	G	4: 83,244,103	V308A	probably benign	Het
Ttll3	A	C	6: 113,407,392	Q557P	probably damaging	Het
Ulk3	G	A	9: 57,592,918	A266T	probably benign	Het
Wfdc6b	C	A	2: 164,617,433	C138*	probably null	Het
Znrd1as	A	T	17: 36,964,873	I116L	probably benign	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
IGL02389:Egflam	APN	15	7250078	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
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

Predicted Primers

PCR Primer
(F):5'- AGTGGATTCTAGTCTAGCTGCC -3'
(R):5'- AAATGGCCAGGGCTTCTTGC -3'

Sequencing Primer
(F):5'- CAGTACTTGCCAGCTTGGGTAC -3'
(R):5'- GCTTCTTGCCACAGCCTG -3'

Posted On

2015-11-11