Mutagenetix > Incidental Mutation

Incidental Mutation 'R1572:Egfem1'

170823

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

039611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29082023-29691209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29648271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 223 (N223I)

Ref Sequence

ENSEMBL: ENSMUSP00000112943 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118531

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600

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: N223I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: N223I

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

probably benign
Transcript: ENSMUST00000140288

SMART Domains

Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143483

SMART Domains

Protein: ENSMUSP00000114146
Gene: ENSMUSG00000063600

Domain	Start	End	E-Value	Type
EGF	22	59	2.16e1	SMART
EGF_CA	60	100	2.66e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 92.9%
20x: 80.7%

Validation Efficiency

97% (130/134)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	G	A	9: 50,740,673	T85M	probably damaging	Het
5430419D17Rik	T	A	7: 131,244,831	Y777*	probably null	Het
Actn1	A	G	12: 80,172,957		probably benign	Het
Afap1l1	A	T	18: 61,737,499	S603T	probably damaging	Het
Ahcy	T	C	2: 155,068,931	Y39C	probably benign	Het
Ankmy2	T	C	12: 36,186,942		probably null	Het
Anxa13	A	T	15: 58,348,807		noncoding transcript	Het
Aoc1	T	C	6: 48,905,786	S221P	possibly damaging	Het
Arhgef10	C	A	8: 14,991,211	A770D	possibly damaging	Het
Arhgef19	A	G	4: 141,254,754	D707G	probably benign	Het
Arhgef3	G	A	14: 27,401,735	R444H	probably damaging	Het
Asphd1	T	C	7: 126,949,099	I11V	probably benign	Het
Atp2b1	A	G	10: 98,994,675	M333V	probably benign	Het
BC051665	T	C	13: 60,785,027	Y40C	probably damaging	Het
Ccdc87	T	A	19: 4,840,313	S278T	probably benign	Het
Chaf1b	G	A	16: 93,901,230	G463D	possibly damaging	Het
Chrna4	T	C	2: 181,029,307	T219A	possibly damaging	Het
Clcnkb	T	G	4: 141,407,095	T584P	possibly damaging	Het
Clptm1l	T	C	13: 73,607,747	S161P	probably benign	Het
Cmya5	T	C	13: 93,094,269	E1437G	possibly damaging	Het
Col13a1	A	T	10: 61,866,426		probably null	Het
Col3a1	T	C	1: 45,345,968	S82P	possibly damaging	Het
Cpeb3	A	T	19: 37,139,082	M383K	probably benign	Het
Cr2	T	A	1: 195,163,314	H111L	probably damaging	Het
Cttnbp2	T	C	6: 18,375,975	S1522G	possibly damaging	Het
Cul3	T	C	1: 80,282,789	D281G	possibly damaging	Het
Cyp2c70	T	G	19: 40,183,982	K72T	probably benign	Het
Cyp39a1	A	T	17: 43,680,129	I110F	probably damaging	Het
Cyp46a1	T	A	12: 108,351,939	M203K	probably null	Het
Cyp8b1	A	T	9: 121,914,958	V436D	possibly damaging	Het
Ddx17	T	C	15: 79,538,565	D324G	probably damaging	Het
Dopey2	A	G	16: 93,770,153	N1274S	probably damaging	Het
Dscaml1	G	A	9: 45,721,333	V1166I	probably benign	Het
Dsp	T	C	13: 38,195,738	V1554A	probably damaging	Het
Dusp27	C	T	1: 166,099,455	V863M	possibly damaging	Het
Efr3a	T	A	15: 65,854,792		probably null	Het
Egr2	T	C	10: 67,539,975	S147P	probably damaging	Het
Elmo3	A	G	8: 105,308,301	T408A	probably benign	Het
Flnb	A	G	14: 7,883,908	D378G	probably damaging	Het
Foxj2	T	A	6: 122,833,261	M193K	probably benign	Het
Gm6327	A	G	16: 12,760,156		noncoding transcript	Het
Gm7694	T	C	1: 170,302,766	H21R	probably benign	Het
Gpr107	A	G	2: 31,167,025	D43G	probably damaging	Het
Grid2	T	A	6: 64,429,694	Y679*	probably null	Het
Grin2c	G	A	11: 115,256,074	P432S	possibly damaging	Het
H2-M10.1	A	G	17: 36,325,733	F60L	possibly damaging	Het
Hectd4	A	G	5: 121,301,878	D1147G	possibly damaging	Het
Idua	G	T	5: 108,680,589	A223S	probably benign	Het
Ifi206	T	C	1: 173,486,853	Q7R	probably benign	Het
Itgad	T	A	7: 128,203,234	V986E	probably damaging	Het
Itsn2	G	A	12: 4,650,044	R670H	probably benign	Het
Kdm4a	T	C	4: 118,138,949	E961G	possibly damaging	Het
Klra5	T	A	6: 129,906,622	I91L	probably damaging	Het
Kntc1	A	G	5: 123,772,113	T525A	probably damaging	Het
Lct	A	G	1: 128,294,195	F1536L	probably benign	Het
Lmod1	T	A	1: 135,363,933	D175E	probably benign	Het
Lonrf1	A	C	8: 36,233,972	D361E	probably benign	Het
Lrrc19	T	C	4: 94,638,429	Y297C	probably damaging	Het
Mast4	T	C	13: 102,736,923	E1787G	possibly damaging	Het
Mpp2	G	A	11: 102,060,548	A452V	probably benign	Het
Msh2	T	C	17: 87,718,652	V686A	possibly damaging	Het
Mthfd1	C	T	12: 76,270,419	Q15*	probably null	Het
Mtnr1b	A	T	9: 15,863,142	I207N	probably damaging	Het
Nid2	A	G	14: 19,805,412	T1207A	probably benign	Het
Nin	A	T	12: 70,038,750	V1569D	probably damaging	Het
Nov	T	A	15: 54,749,252	M219K	possibly damaging	Het
Nrcam	T	A	12: 44,537,364		probably benign	Het
Nsd1	T	A	13: 55,246,969	H897Q	probably damaging	Het
Olfr102	A	T	17: 37,313,480	N301K	probably benign	Het
Olfr1364	T	A	13: 21,574,310	I49F	possibly damaging	Het
Olfr77	G	T	9: 19,920,912	K234N	probably benign	Het
Olfr979	A	G	9: 40,001,194	F11S	probably benign	Het
Paip1	T	C	13: 119,451,784		probably benign	Het
Pcnx3	G	A	19: 5,685,347	R484*	probably null	Het
Pdxk	A	G	10: 78,447,980	Y127H	probably damaging	Het
Phf20	T	A	2: 156,287,834	V442E	probably benign	Het
Phlpp1	G	A	1: 106,392,789	D1505N	probably damaging	Het
Pkhd1	T	C	1: 20,347,440	T2496A	probably benign	Het
Pkhd1l1	A	G	15: 44,543,473	T2369A	probably benign	Het
Plod2	T	A	9: 92,603,067		probably benign	Het
Pnpla7	T	A	2: 25,015,251	M617K	possibly damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prkch	T	A	12: 73,649,357		probably null	Het
Prr12	G	A	7: 45,028,800	H1974Y	unknown	Het
Prr16	A	G	18: 51,302,970	I174V	probably benign	Het
Prss45	A	T	9: 110,838,429	T39S	probably benign	Het
Pum1	T	A	4: 130,718,204	D161E	probably damaging	Het
Rad51ap2	A	G	12: 11,457,112	D345G	probably damaging	Het
Ralgapb	A	G	2: 158,446,199		probably benign	Het
Rasgrp3	A	G	17: 75,500,734	H262R	possibly damaging	Het
Rnf213	T	A	11: 119,436,611	I1809N	probably damaging	Het
Ryr1	A	G	7: 29,062,191	L3177P	probably damaging	Het
Scyl2	C	A	10: 89,650,956	R230L	probably damaging	Het
Sfxn2	T	C	19: 46,582,476		probably benign	Het
Slc18b1	T	C	10: 23,798,741		probably benign	Het
Spata31d1d	T	C	13: 59,728,191	H510R	probably benign	Het
Stab1	A	T	14: 31,150,823	N1109K	probably damaging	Het
Sult3a2	A	G	10: 33,781,977	S47P	probably damaging	Het
Tenm3	T	C	8: 48,228,993	N2518S	possibly damaging	Het
Tex21	G	T	12: 76,206,891	P416Q	probably benign	Het
Tex38	T	C	4: 115,780,306	N100S	probably benign	Het
Thsd4	A	C	9: 60,394,553		probably benign	Het
Ticrr	T	C	7: 79,681,824	V723A	probably damaging	Het
Tmprss15	A	G	16: 79,090,829	V30A	probably benign	Het
Uba3	A	G	6: 97,185,337		probably benign	Het
Ubr1	T	C	2: 120,935,319		probably benign	Het
Uchl4	A	T	9: 64,235,731	I165L	probably benign	Het
Vmn2r112	A	T	17: 22,603,144	T268S	possibly damaging	Het
Wfdc3	T	C	2: 164,744,194		probably benign	Het
Zfp282	T	A	6: 47,892,867	L282Q	probably damaging	Het
Zfp422	A	T	6: 116,626,784	C85S	probably damaging	Het
Zfp790	A	T	7: 29,828,139	Q83L	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
R1754:Egfem1	UTSW	3	29668333	missense	possibly damaging	0.68
R2568:Egfem1	UTSW	3	29582931	missense	probably damaging	1.00
R2679:Egfem1	UTSW	3	29670676	missense	probably benign	0.01
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
R8928:Egfem1	UTSW	3	29690412	makesense	probably null
R9210:Egfem1	UTSW	3	29153594	missense	probably damaging	1.00
R9227:Egfem1	UTSW	3	29357168	missense	probably benign	0.03
R9230:Egfem1	UTSW	3	29357168	missense	probably benign	0.03
R9720:Egfem1	UTSW	3	29662431	missense	probably damaging	1.00
R9745:Egfem1	UTSW	3	29662383	missense	probably damaging	1.00
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'- GCCTTCTAAAGGACAGTTTGTTGGTGC -3'
(R):5'- TCCTACCTGCTCCAAGGGTTCAATC -3'

Sequencing Primer
(F):5'- ggaggggggaaagggaag -3'
(R):5'- TCCAAGGGTTCAATCTGACTAC -3'

Posted On

2014-04-13