Mutagenetix > Incidental Mutation

Incidental Mutation 'R3801:Egfem1'

272963

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

040760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29082023-29691209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29151926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000118156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118531] [ENSMUST00000119598] [ENSMUST00000124809] [ENSMUST00000146943]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118531
AA Change: D104G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: D104G

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: D104G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: D104G

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

probably benign
Transcript: ENSMUST00000124809
AA Change: D83G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114314
Gene: ENSMUSG00000063600
AA Change: D83G

Domain	Start	End	E-Value	Type
Pfam:EMI	9	83	7.7e-17	PFAM
Blast:EGF_like	87	124	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126420

Predicted Effect

probably benign
Transcript: ENSMUST00000146943
AA Change: D91G

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600
AA Change: D91G

Domain	Start	End	E-Value	Type
Pfam:EMI	17	91	1.8e-16	PFAM
Blast:EGF_like	95	132	2e-11	BLAST
EGF	137	174	2.16e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	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
R2679:Egfem1	UTSW	3	29670676	missense	probably benign	0.01
R3411:Egfem1	UTSW	3	29583021	missense	probably damaging	1.00
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'- CCTCCCAATGTATGTGGCAG -3'
(R):5'- CCATGATATGGTGAGTCATTAGGG -3'

Sequencing Primer
(F):5'- CCCAATGTATGTGGCAGGGTTTG -3'
(R):5'- AGAGCAGTGTTTCTCAACCTG -3'

Posted On

2015-03-25