Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Egflam'

54559

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

038798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7206120-7398395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7253523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 351 (L351R)

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: L351R

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: L351R

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: L351R

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: L351R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162105

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,811,461		probably null	Het
Abcb4	T	A	5: 8,947,376	C952S	probably damaging	Het
Adamtsl2	A	G	2: 27,089,635	D272G	probably benign	Het
Aim2	G	A	1: 173,461,964	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,914,024	R426H	probably damaging	Het
Apoc2	A	G	7: 19,673,353	S28P	probably benign	Het
Arfgef3	G	A	10: 18,597,431	T1628I	probably benign	Het
Atp10a	G	A	7: 58,819,740		probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,121,899	D226E	probably benign	Het
Brsk2	T	C	7: 141,998,492	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554	F27Y	probably damaging	Het
Casp8	T	A	1: 58,844,792	N439K	probably benign	Het
Ccdc175	T	A	12: 72,157,507	K253N	probably benign	Het
Cdc42bpa	A	G	1: 180,040,179	H193R	probably damaging	Het
Cdk17	T	C	10: 93,216,472	M105T	probably benign	Het
Cdon	C	A	9: 35,478,611	P854T	probably damaging	Het
Cep44	A	G	8: 56,544,152	M117T	possibly damaging	Het
Cep89	A	T	7: 35,435,530	E674D	probably damaging	Het
Cit	C	T	5: 115,873,943	A203V	probably damaging	Het
Clstn1	C	A	4: 149,629,300		probably null	Het
Col7a1	T	A	9: 108,958,147	D565E	unknown	Het
Cpb1	T	A	3: 20,262,474	Y304F	probably damaging	Het
Cps1	T	G	1: 67,172,802	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,987,053	T372A	possibly damaging	Het
Dars	A	G	1: 128,405,381	V102A	probably benign	Het
Dhx35	C	T	2: 158,817,415	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,779	S2100P	probably benign	Het
Dst	T	C	1: 34,266,960		probably null	Het
Elp2	T	A	18: 24,626,156	D523E	probably benign	Het
Exo5	C	A	4: 120,921,684	G328V	probably damaging	Het
Fam208a	C	T	14: 27,461,750	T722I	probably benign	Het
Fut9	A	G	4: 25,620,811	M1T	probably null	Het
Galnt5	A	G	2: 58,024,625	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,567,772	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977	C353Y	probably damaging	Het
Gm13089	A	T	4: 143,698,503	D123E	probably benign	Het
Hace1	A	G	10: 45,648,869	T244A	probably damaging	Het
Hr	T	C	14: 70,559,657	I500T	probably benign	Het
Ifnl2	A	T	7: 28,509,282	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,389,824	F5L	probably benign	Het
Inhbb	A	G	1: 119,417,416	L381P	probably damaging	Het
Irx3	A	T	8: 91,801,093	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,360,145	T363I	probably benign	Het
Izumo1	A	T	7: 45,622,899	T35S	probably benign	Het
Kank4	A	G	4: 98,777,105	S651P	probably damaging	Het
Kit	T	C	5: 75,610,879	V232A	probably benign	Het
Klhl11	T	C	11: 100,463,714	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,689	N36K	probably damaging	Het
Lrrk1	T	C	7: 66,266,615		probably null	Het
Mamdc4	G	T	2: 25,564,193	Q1042K	probably benign	Het
Mical2	A	G	7: 112,321,440		probably null	Het
Ms4a3	C	A	19: 11,631,361	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,333,513	V427A	probably benign	Het
Myo3a	A	C	2: 22,396,299	E626D	possibly damaging	Het
Nckap5	A	T	1: 126,027,288	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,249	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,208,461	Y753H	probably damaging	Het
Nynrin	T	C	14: 55,872,761	V1775A	probably damaging	Het
Olfr141	A	G	2: 86,806,861	L46S	probably damaging	Het
Olfr292	T	C	7: 86,694,876	V140A	possibly damaging	Het
Olfr694	A	T	7: 106,688,998	H244Q	probably damaging	Het
Olfr735	T	C	14: 50,345,926	Y141C	probably damaging	Het
Olfr823	G	A	10: 130,112,580	S70F	probably damaging	Het
Oplah	A	G	15: 76,302,992	S570P	probably benign	Het
Osbpl11	C	A	16: 33,234,444	Y632*	probably null	Het
Osbpl5	A	T	7: 143,694,821	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,497,952	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,467,424	S132R	possibly damaging	Het
Ptpn13	T	A	5: 103,556,145	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,930,135	W8R	probably damaging	Het
Rgs3	T	G	4: 62,625,936	V315G	probably damaging	Het
Rora	T	A	9: 69,361,869	M82K	probably damaging	Het
Rph3al	T	C	11: 75,908,969	I55V	probably benign	Het
Sag	T	C	1: 87,812,991	V45A	probably damaging	Het
Scn3a	T	C	2: 65,536,510	E56G	probably damaging	Het
Sec24c	T	G	14: 20,686,948	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,138,979	L748S	probably damaging	Het
Stard9	A	T	2: 120,706,306	D4186V	probably damaging	Het
Stk39	T	C	2: 68,366,167	E306G	probably damaging	Het
Sycp1	C	A	3: 102,898,849		probably null	Het
Taf2	A	C	15: 55,060,050	L277R	probably damaging	Het
Tbc1d23	T	A	16: 57,173,106	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,361,304	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,060,141	H401R	probably benign	Het
Tie1	T	A	4: 118,476,147	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,728,102	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,453,507	N691S	probably benign	Het
Trim24	G	A	6: 37,957,783	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,357,976		probably benign	Het
Trpc4	T	G	3: 54,194,768	L29R	probably damaging	Het
Trpm6	A	T	19: 18,825,862	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,536	E442K	probably benign	Het
Uggt2	A	G	14: 119,095,336	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,138,884	S137R	probably benign	Het
Unc13a	A	G	8: 71,658,467	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,976,306	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,716,479	D231G	probably benign	Het
Ythdc2	A	T	18: 44,864,357	M994L	probably benign	Het
Zcchc6	A	T	13: 59,799,782	C506*	probably null	Het
Zfp804a	G	A	2: 82,257,588	S587N	probably damaging	Het
Zswim2	A	G	2: 83,923,659	I219T	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
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
R4746:Egflam	UTSW	15	7224639	splice site	probably null
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
R8880:Egflam	UTSW	15	7237768	missense	probably damaging	0.98
R9076:Egflam	UTSW	15	7207674	missense	probably damaging	1.00
R9216:Egflam	UTSW	15	7252461	missense	probably benign	0.02
R9518:Egflam	UTSW	15	7289782	critical splice donor site	probably null
R9557:Egflam	UTSW	15	7212175	missense	probably damaging	1.00
R9745:Egflam	UTSW	15	7303938	missense	probably benign	0.38
R9800:Egflam	UTSW	15	7250044	missense	probably benign	0.01
X0024:Egflam	UTSW	15	7304013	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTCTCACTTTGCCTGGAGACTG -3'
(R):5'- CCCACAGCCATGCTCGTGTTTATG -3'

Sequencing Primer
(F):5'- GGCTAGTTTACCAACAATACATGG -3'
(R):5'- TCCTGCTACCAAAGTTGGG -3'

Posted On

2013-07-11