Mutagenetix > Incidental Mutation

Incidental Mutation 'R1964:Egflam'

217146

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

039977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1964 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7235601-7427876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7276586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 527 (T527A)

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: T527A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: T527A

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: T527A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: T527A

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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,211,324 (GRCm39)	H158Y	probably damaging	Het
1810009J06Rik	T	A	6: 40,945,141 (GRCm39)	C207S	probably damaging	Het
Aadac	T	A	3: 59,944,759 (GRCm39)		probably null	Het
Abca6	T	A	11: 110,075,502 (GRCm39)	I1330F	probably damaging	Het
Adar	A	T	3: 89,653,202 (GRCm39)	S263C	probably benign	Het
Adra2b	T	C	2: 127,205,734 (GRCm39)	Y84H	probably damaging	Het
Arnt2	A	T	7: 83,992,997 (GRCm39)	V181E	possibly damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Atp2c1	A	G	9: 105,323,322 (GRCm39)	L181P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Birc6	A	G	17: 74,941,880 (GRCm39)	M2737V	possibly damaging	Het
Ccdc81	A	G	7: 89,535,361 (GRCm39)	C292R	probably benign	Het
Cd14	T	A	18: 36,859,392 (GRCm39)	E21V	probably damaging	Het
Cdc14b	A	C	13: 64,363,351 (GRCm39)	C303W	probably damaging	Het
Cdh23	T	C	10: 60,221,001 (GRCm39)	I1248V	probably benign	Het
Ceacam1	T	C	7: 25,174,133 (GRCm39)	D174G	probably benign	Het
Cgas	T	G	9: 78,344,737 (GRCm39)	Y228S	probably damaging	Het
Chd7	A	G	4: 8,865,978 (GRCm39)	M717V	probably damaging	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Clec4d	A	G	6: 123,239,319 (GRCm39)	K9R	probably benign	Het
Cntnap1	C	A	11: 101,068,850 (GRCm39)	S131*	probably null	Het
Crybg1	T	C	10: 43,834,326 (GRCm39)	K1581R	probably damaging	Het
Csf2	T	G	11: 54,139,284 (GRCm39)	T100P	probably benign	Het
Csrp2	T	A	10: 110,767,894 (GRCm39)	D26E	probably benign	Het
Cul1	T	C	6: 47,479,505 (GRCm39)	V257A	probably damaging	Het
Cul4a	G	A	8: 13,186,406 (GRCm39)	M505I	possibly damaging	Het
Cul4a	T	C	8: 13,186,854 (GRCm39)	M530T	probably benign	Het
Dcp2	T	C	18: 44,529,038 (GRCm39)	M51T	possibly damaging	Het
Ddx60	T	A	8: 62,401,903 (GRCm39)	C260S	probably benign	Het
Dennd2c	G	A	3: 103,073,807 (GRCm39)	R851H	probably damaging	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Edem1	T	C	6: 108,821,908 (GRCm39)	W322R	probably benign	Het
Ephb1	T	A	9: 101,848,322 (GRCm39)	M659L	possibly damaging	Het
Fbxl2	A	G	9: 113,818,237 (GRCm39)	I203T	probably benign	Het
Gabbr1	G	A	17: 37,359,351 (GRCm39)	G109R	probably damaging	Het
Gabra2	T	C	5: 71,171,793 (GRCm39)	I148V	possibly damaging	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gps2	T	G	11: 69,807,246 (GRCm39)	S301A	probably benign	Het
H2-D1	T	C	17: 35,482,595 (GRCm39)	L105P	probably benign	Het
Igdcc4	T	C	9: 65,030,051 (GRCm39)	V367A	probably benign	Het
Igkv4-69	T	G	6: 69,260,782 (GRCm39)	Y115S	probably benign	Het
Itga5	A	G	15: 103,262,741 (GRCm39)	L309P	probably damaging	Het
Itih1	A	G	14: 30,651,580 (GRCm39)	Y871H	probably damaging	Het
Itpr2	T	A	6: 146,013,191 (GRCm39)	N2662I	probably damaging	Het
Kctd19	T	A	8: 106,115,102 (GRCm39)	E486D	probably damaging	Het
Kif5b	C	T	18: 6,209,059 (GRCm39)	R901Q	possibly damaging	Het
Kmt2a	G	A	9: 44,731,941 (GRCm39)	S2792F	probably benign	Het
Magi3	A	G	3: 103,927,718 (GRCm39)	V1023A	probably damaging	Het
Mapk9	C	A	11: 49,745,160 (GRCm39)	R25S	probably null	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mill2	A	G	7: 18,590,529 (GRCm39)	K203R	probably damaging	Het
Mios	T	A	6: 8,215,798 (GRCm39)	H331Q	probably damaging	Het
Muc6	G	T	7: 141,226,329 (GRCm39)	S1566*	probably null	Het
Muc6	A	G	7: 141,226,330 (GRCm39)		probably benign	Het
Napsa	T	C	7: 44,231,109 (GRCm39)	F113L	probably benign	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Or9m1	A	G	2: 87,734,011 (GRCm39)	V3A	probably benign	Het
Oscp1	T	G	4: 125,977,415 (GRCm39)	V226G	possibly damaging	Het
Osgin2	G	T	4: 15,998,358 (GRCm39)	S421R	probably damaging	Het
Pclaf	A	G	9: 65,800,677 (GRCm39)	N50D	probably damaging	Het
Pdgfc	A	T	3: 81,082,292 (GRCm39)	I162F	probably benign	Het
Plag1	T	C	4: 3,903,956 (GRCm39)	T412A	probably benign	Het
Pogz	A	T	3: 94,785,504 (GRCm39)	T820S	probably benign	Het
Ptpn9	T	A	9: 56,967,196 (GRCm39)	V473D	probably damaging	Het
Qdpr	A	T	5: 45,596,660 (GRCm39)	M66K	possibly damaging	Het
Qrich1	A	G	9: 108,411,621 (GRCm39)	N382S	possibly damaging	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rgl1	T	A	1: 152,424,855 (GRCm39)	I375F	probably damaging	Het
Rif1	C	T	2: 51,988,421 (GRCm39)	T720I	probably benign	Het
Rilp	A	T	11: 75,401,328 (GRCm39)	Q95L	probably benign	Het
Rnf169	T	A	7: 99,574,732 (GRCm39)	N621I	probably damaging	Het
Rps27a	T	C	11: 29,497,229 (GRCm39)	K27R	probably null	Het
Sar1a	T	C	10: 61,520,947 (GRCm39)	V54A	probably benign	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Sdk2	G	A	11: 113,671,843 (GRCm39)	Q2102*	probably null	Het
Serpina1e	T	A	12: 103,917,466 (GRCm39)	I68F	probably damaging	Het
Serpinb9e	A	C	13: 33,437,474 (GRCm39)	Q119P	probably benign	Het
Sh3tc2	A	T	18: 62,124,226 (GRCm39)	K965*	probably null	Het
Slc16a1	A	T	3: 104,556,782 (GRCm39)	S56C	probably damaging	Het
Slc26a11	T	A	11: 119,271,020 (GRCm39)	L563Q	possibly damaging	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Smgc	G	A	15: 91,744,468 (GRCm39)	G239D	probably damaging	Het
Sos2	A	T	12: 69,663,636 (GRCm39)	M616K	possibly damaging	Het
Tet1	T	A	10: 62,648,726 (GRCm39)	D1902V	possibly damaging	Het
Thap2	C	T	10: 115,220,152 (GRCm39)	C10Y	probably damaging	Het
Tln2	T	C	9: 67,249,417 (GRCm39)	D890G	probably benign	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Utrn	A	T	10: 12,560,181 (GRCm39)	D1369E	probably damaging	Het
Vcan	A	G	13: 89,840,861 (GRCm39)	V1561A	probably benign	Het
Vmn1r70	T	C	7: 10,367,737 (GRCm39)	F56S	possibly damaging	Het
Vmn2r25	A	G	6: 123,800,254 (GRCm39)	L696S	possibly damaging	Het
Washc2	A	G	6: 116,185,948 (GRCm39)	T53A	probably damaging	Het
Wnk1	T	A	6: 119,911,343 (GRCm39)	T2417S	possibly damaging	Het
Zbtb49	A	T	5: 38,361,105 (GRCm39)	C12*	probably null	Het
Zfp472	C	A	17: 33,196,848 (GRCm39)	P308T	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTCAAGATGGATGTGAC -3'
(R):5'- TACCCCACATCACAATCTGTTG -3'

Sequencing Primer
(F):5'- ACAGACTTGGGGTGATCACTC -3'
(R):5'- ATTACCTTCCGGACACCT -3'

Posted On

2014-08-01