Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Egflam'

506502

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

044375-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7235601-7427876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7263773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 726 (T726S)

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: T726S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: T726S

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: T726S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: T726S

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Casr	A	G	16: 36,337,971 (GRCm39)	C60R	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,409,572 (GRCm39)	R84W	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	probably benign	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
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
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'- AGTGATGTAGTCTGCACACAC -3'

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

Posted On

2018-03-15