Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Egflam'

219294

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

040017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2008 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

7235601-7427876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7267285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 700 (V700E)

Ref Sequence

ENSEMBL: ENSMUSP00000094238 (fasta)

Gene Model

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

AlphaFold

Q4VBE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058593
AA Change: V700E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: V700E

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

possibly damaging
Transcript: ENSMUST00000096494
AA Change: V700E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: V700E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GGGACCTATGTACTCAGATGC -3'
(R):5'- CTGCTCACCAGTTCAGAGGA -3'

Sequencing Primer
(F):5'- AGTCAAACTCAGCCTTGGTG -3'
(R):5'- TGCTCACCAGTTCAGAGGATTACC -3'

Posted On

2014-08-25