Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Egfem1'

250710

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29082023-29691209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29670676 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 476 (T476A)

Ref Sequence

ENSEMBL: ENSMUSP00000112943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000119598]

Predicted Effect

probably benign
Transcript: ENSMUST00000118531
AA Change: T419A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: T419A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EMI	30	104	1.4e-15	PFAM
Blast:EGF_like	108	145	7e-10	BLAST
EGF	150	187	2.16e1	SMART
EGF_CA	188	228	2.66e-10	SMART
EGF	237	274	1.08e-1	SMART
EGF_like	275	313	9.19e-5	SMART
low complexity region	317	331	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
EGF	391	424	1.09e1	SMART
Blast:EGF_like	449	481	5e-10	BLAST
EGF	492	526	2.43e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119598
AA Change: T476A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: T476A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EMI	31	102	1.1e-15	PFAM
Blast:EGF_like	108	145	6e-10	BLAST
EGF_CA	164	204	1.61e-9	SMART
EGF	208	244	6.4e-4	SMART
EGF_CA	245	285	1.81e-12	SMART
EGF	294	331	1.08e-1	SMART
EGF_like	332	370	9.19e-5	SMART
low complexity region	374	388	N/A	INTRINSIC
low complexity region	414	428	N/A	INTRINSIC
EGF	448	481	1.09e1	SMART
Blast:EGF_like	506	538	5e-10	BLAST
EGF	549	583	2.43e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126420

Predicted Effect

unknown
Transcript: ENSMUST00000140288
AA Change: T225A

SMART Domains

Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: T225A

Domain	Start	End	E-Value	Type
EGF_like	5	35	4.32e-1	SMART
EGF_CA	36	76	2.66e-10	SMART
EGF	85	122	1.08e-1	SMART
low complexity region	124	138	N/A	INTRINSIC
low complexity region	164	178	N/A	INTRINSIC
EGF	198	231	1.09e1	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Egfem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Egfem1	APN	3	29657153	missense	possibly damaging	0.54
IGL02111:Egfem1	APN	3	29650896	splice site	probably null
IGL02325:Egfem1	APN	3	29151917	missense	probably benign	0.01
IGL02450:Egfem1	APN	3	29657268	critical splice donor site	probably null
IGL02543:Egfem1	APN	3	29668380	missense	probably benign	0.01
IGL02835:Egfem1	UTSW	3	29657241	missense	probably damaging	1.00
P0033:Egfem1	UTSW	3	29690191	missense	probably damaging	1.00
R0010:Egfem1	UTSW	3	29582919	missense	probably damaging	1.00
R0294:Egfem1	UTSW	3	29690121	missense	probably damaging	1.00
R0379:Egfem1	UTSW	3	29668250	missense	possibly damaging	0.92
R1479:Egfem1	UTSW	3	29657165	missense	probably damaging	1.00
R1572:Egfem1	UTSW	3	29648271	missense	probably benign	0.02
R1754:Egfem1	UTSW	3	29668333	missense	possibly damaging	0.68
R2568:Egfem1	UTSW	3	29582931	missense	probably damaging	1.00
R3411:Egfem1	UTSW	3	29583021	missense	probably damaging	1.00
R3801:Egfem1	UTSW	3	29151926	missense	probably benign	0.14
R4049:Egfem1	UTSW	3	29686731	missense	probably benign	0.01
R4851:Egfem1	UTSW	3	29151883	missense	possibly damaging	0.92
R4917:Egfem1	UTSW	3	29151893	missense	probably damaging	1.00
R4918:Egfem1	UTSW	3	29151893	missense	probably damaging	1.00
R4969:Egfem1	UTSW	3	29582996	missense	probably damaging	0.98
R4997:Egfem1	UTSW	3	29153590	missense	probably benign	0.00
R5148:Egfem1	UTSW	3	29457823	intron	probably benign
R5194:Egfem1	UTSW	3	29357196	critical splice donor site	probably null
R5284:Egfem1	UTSW	3	29650787	missense	possibly damaging	0.53
R5354:Egfem1	UTSW	3	29082212	critical splice donor site	probably null
R5627:Egfem1	UTSW	3	29668399	nonsense	probably null
R5677:Egfem1	UTSW	3	29690174	missense	probably damaging	0.99
R5928:Egfem1	UTSW	3	29582928	missense	possibly damaging	0.92
R5982:Egfem1	UTSW	3	29657270	splice site	probably null
R6419:Egfem1	UTSW	3	29657249	missense	probably damaging	1.00
R6475:Egfem1	UTSW	3	29657163	missense	probably damaging	1.00
R6586:Egfem1	UTSW	3	29662411	nonsense	probably null
R7046:Egfem1	UTSW	3	29082215	splice site	probably null
R7079:Egfem1	UTSW	3	29153582	missense	probably benign	0.00
R7308:Egfem1	UTSW	3	29151866	missense	probably benign	0.09
R7362:Egfem1	UTSW	3	29151920	missense	probably benign	0.01
R7684:Egfem1	UTSW	3	29690185	missense	probably damaging	0.97
R7697:Egfem1	UTSW	3	29690197	critical splice donor site	probably null
R7814:Egfem1	UTSW	3	29686791	missense	probably damaging	1.00
R8226:Egfem1	UTSW	3	29657255	missense	probably damaging	1.00
R8429:Egfem1	UTSW	3	29657268	critical splice donor site	probably null
X0028:Egfem1	UTSW	3	29657146	missense	probably damaging	1.00
Z1177:Egfem1	UTSW	3	29148453	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GTGTGTGAAAGACATCTGATCTG -3'
(R):5'- GGATTTGGAGTACTGCCTTCCC -3'

Sequencing Primer
(F):5'- GCAGTCTGTTTAGATGGC -3'
(R):5'- GAGTACTGCCTTCCCCTGAG -3'

Posted On

2014-12-04