Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Egfem1'

459997

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29136172-29745358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29637077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 42 (V42A)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118531
AA Change: V195A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: V195A

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: V171A

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: V171A

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

possibly damaging
Transcript: ENSMUST00000140288
AA Change: V42A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: V42A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146943

SMART Domains

Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,537,159 (GRCm39)	I475L	probably benign	Het
Abcc2	C	T	19: 43,807,797 (GRCm39)	R813W	probably damaging	Het
Adam34	T	C	8: 44,105,067 (GRCm39)	T193A	probably benign	Het
Adgb	T	C	10: 10,254,531 (GRCm39)	D1118G	probably damaging	Het
Adprh	A	C	16: 38,267,746 (GRCm39)	S180A	probably benign	Het
Atad5	A	T	11: 79,985,003 (GRCm39)	D30V	probably damaging	Het
Best3	G	A	10: 116,843,532 (GRCm39)	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,235,595 (GRCm39)		probably benign	Het
Btc	A	T	5: 91,514,004 (GRCm39)	V86E	probably damaging	Het
Cacna2d4	G	T	6: 119,258,659 (GRCm39)	A582S	probably benign	Het
Carm1	A	G	9: 21,486,598 (GRCm39)		probably benign	Het
Catsperg1	A	T	7: 28,906,040 (GRCm39)	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,575,047 (GRCm39)	H547Q	probably benign	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cd44	C	T	2: 102,654,648 (GRCm39)	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,718,861 (GRCm39)	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,881,832 (GRCm39)	Q1122K	probably benign	Het
Cep290	A	G	10: 100,387,692 (GRCm39)	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,492,811 (GRCm39)	P512S	possibly damaging	Het
Chrdl2	A	T	7: 99,659,200 (GRCm39)		probably benign	Het
Cibar1	A	G	4: 12,171,919 (GRCm39)		probably benign	Het
Clec7a	A	T	6: 129,442,430 (GRCm39)	F199Y	probably damaging	Het
Cracd	A	C	5: 76,989,581 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,101,002 (GRCm39)	K1182E	probably benign	Het
Dnah11	G	T	12: 117,878,371 (GRCm39)		probably null	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Ecpas	A	T	4: 58,849,948 (GRCm39)	M425K	possibly damaging	Het
Eif3e	T	A	15: 43,138,728 (GRCm39)		probably null	Het
Exosc9	T	A	3: 36,609,774 (GRCm39)		probably benign	Het
Fbxw18	T	A	9: 109,529,149 (GRCm39)	T135S	probably damaging	Het
Fbxw21	T	C	9: 108,972,893 (GRCm39)	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,256,874 (GRCm39)	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,410,179 (GRCm39)	Q46K	probably benign	Het
Gm6741	A	G	17: 91,544,528 (GRCm39)	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,732,349 (GRCm39)	L532S	probably damaging	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Helz2	A	T	2: 180,872,177 (GRCm39)	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 65,061,122 (GRCm39)	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,474,648 (GRCm39)	D4746E	possibly damaging	Het
Il17rb	C	A	14: 29,726,232 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,653,587 (GRCm39)	I252F	probably damaging	Het
Khnyn	C	T	14: 56,123,344 (GRCm39)	R33C	probably damaging	Het
Ksr1	G	A	11: 78,950,545 (GRCm39)	P20L	probably damaging	Het
Lamc3	T	C	2: 31,811,721 (GRCm39)	Y903H	probably benign	Het
Miga2	T	C	2: 30,258,875 (GRCm39)		probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Ncoa4	T	C	14: 31,888,678 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,912,996 (GRCm39)	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,024,055 (GRCm39)	L420R	probably damaging	Het
Onecut1	A	G	9: 74,770,066 (GRCm39)	N163S	probably benign	Het
Or5ac21	G	A	16: 59,123,521 (GRCm39)	E2K	probably damaging	Het
Or5d47	T	A	2: 87,804,380 (GRCm39)	S210C	probably benign	Het
Or7e166	A	T	9: 19,625,049 (GRCm39)	T309S	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Per2	C	T	1: 91,372,373 (GRCm39)	V234I	probably damaging	Het
Pign	A	G	1: 105,485,792 (GRCm39)	V735A	possibly damaging	Het
Plekha7	T	C	7: 115,727,809 (GRCm39)	K85R	probably benign	Het
Pnma2	C	T	14: 67,154,323 (GRCm39)	T249I	probably benign	Het
Polr2b	A	G	5: 77,493,189 (GRCm39)	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,576,186 (GRCm39)	L519H	probably damaging	Het
Ptar1	T	C	19: 23,695,277 (GRCm39)	I248T	probably benign	Het
Ptprh	A	C	7: 4,576,507 (GRCm39)	L251R	probably damaging	Het
Purg	T	C	8: 33,876,980 (GRCm39)	M206T	probably benign	Het
Pwp2	A	T	10: 78,018,290 (GRCm39)	F134I	probably damaging	Het
Riok3	T	A	18: 12,286,075 (GRCm39)	H434Q	probably benign	Het
Sorbs2	A	G	8: 46,216,220 (GRCm39)	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,197 (GRCm39)	I598V	probably benign	Het
Tdg	T	A	10: 82,477,204 (GRCm39)	V85E	probably benign	Het
Tfb1m	C	T	17: 3,593,422 (GRCm39)	V166I	probably benign	Het
Tmem163	A	T	1: 127,419,383 (GRCm39)	M274K	probably damaging	Het
Tpr	T	C	1: 150,303,878 (GRCm39)	I1343T	probably benign	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Tut7	G	A	13: 59,969,880 (GRCm39)	A5V	probably benign	Het
Usp34	A	G	11: 23,386,040 (GRCm39)	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,260,487 (GRCm39)	T176S	possibly damaging	Het
Vps52	C	T	17: 34,180,100 (GRCm39)	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,473,514 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,966,272 (GRCm39)	F169L	probably benign	Het
Zfyve16	T	C	13: 92,658,625 (GRCm39)	R429G	probably benign	Het
Zzef1	A	G	11: 72,803,678 (GRCm39)	E2504G	probably damaging	Het

Other mutations in Egfem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Egfem1	APN	3	29,711,302 (GRCm39)	missense	possibly damaging	0.54
IGL02111:Egfem1	APN	3	29,705,045 (GRCm39)	splice site	probably null
IGL02325:Egfem1	APN	3	29,206,066 (GRCm39)	missense	probably benign	0.01
IGL02450:Egfem1	APN	3	29,711,417 (GRCm39)	critical splice donor site	probably null
IGL02543:Egfem1	APN	3	29,722,529 (GRCm39)	missense	probably benign	0.01
IGL02835:Egfem1	UTSW	3	29,711,390 (GRCm39)	missense	probably damaging	1.00
P0033:Egfem1	UTSW	3	29,744,340 (GRCm39)	missense	probably damaging	1.00
R0010:Egfem1	UTSW	3	29,637,068 (GRCm39)	missense	probably damaging	1.00
R0294:Egfem1	UTSW	3	29,744,270 (GRCm39)	missense	probably damaging	1.00
R0379:Egfem1	UTSW	3	29,722,399 (GRCm39)	missense	possibly damaging	0.92
R1479:Egfem1	UTSW	3	29,711,314 (GRCm39)	missense	probably damaging	1.00
R1572:Egfem1	UTSW	3	29,702,420 (GRCm39)	missense	probably benign	0.02
R1754:Egfem1	UTSW	3	29,722,482 (GRCm39)	missense	possibly damaging	0.68
R2568:Egfem1	UTSW	3	29,637,080 (GRCm39)	missense	probably damaging	1.00
R2679:Egfem1	UTSW	3	29,724,825 (GRCm39)	missense	probably benign	0.01
R3411:Egfem1	UTSW	3	29,637,170 (GRCm39)	missense	probably damaging	1.00
R3801:Egfem1	UTSW	3	29,206,075 (GRCm39)	missense	probably benign	0.14
R4049:Egfem1	UTSW	3	29,740,880 (GRCm39)	missense	probably benign	0.01
R4851:Egfem1	UTSW	3	29,206,032 (GRCm39)	missense	possibly damaging	0.92
R4917:Egfem1	UTSW	3	29,206,042 (GRCm39)	missense	probably damaging	1.00
R4918:Egfem1	UTSW	3	29,206,042 (GRCm39)	missense	probably damaging	1.00
R4969:Egfem1	UTSW	3	29,637,145 (GRCm39)	missense	probably damaging	0.98
R4997:Egfem1	UTSW	3	29,207,739 (GRCm39)	missense	probably benign	0.00
R5148:Egfem1	UTSW	3	29,511,972 (GRCm39)	intron	probably benign
R5194:Egfem1	UTSW	3	29,411,345 (GRCm39)	critical splice donor site	probably null
R5284:Egfem1	UTSW	3	29,704,936 (GRCm39)	missense	possibly damaging	0.53
R5354:Egfem1	UTSW	3	29,136,361 (GRCm39)	critical splice donor site	probably null
R5627:Egfem1	UTSW	3	29,722,548 (GRCm39)	nonsense	probably null
R5677:Egfem1	UTSW	3	29,744,323 (GRCm39)	missense	probably damaging	0.99
R5982:Egfem1	UTSW	3	29,711,419 (GRCm39)	splice site	probably null
R6419:Egfem1	UTSW	3	29,711,398 (GRCm39)	missense	probably damaging	1.00
R6475:Egfem1	UTSW	3	29,711,312 (GRCm39)	missense	probably damaging	1.00
R6586:Egfem1	UTSW	3	29,716,560 (GRCm39)	nonsense	probably null
R7046:Egfem1	UTSW	3	29,136,364 (GRCm39)	splice site	probably null
R7079:Egfem1	UTSW	3	29,207,731 (GRCm39)	missense	probably benign	0.00
R7308:Egfem1	UTSW	3	29,206,015 (GRCm39)	missense	probably benign	0.09
R7362:Egfem1	UTSW	3	29,206,069 (GRCm39)	missense	probably benign	0.01
R7684:Egfem1	UTSW	3	29,744,334 (GRCm39)	missense	probably damaging	0.97
R7697:Egfem1	UTSW	3	29,744,346 (GRCm39)	critical splice donor site	probably null
R7814:Egfem1	UTSW	3	29,740,940 (GRCm39)	missense	probably damaging	1.00
R8226:Egfem1	UTSW	3	29,711,404 (GRCm39)	missense	probably damaging	1.00
R8429:Egfem1	UTSW	3	29,711,417 (GRCm39)	critical splice donor site	probably null
R8928:Egfem1	UTSW	3	29,744,561 (GRCm39)	makesense	probably null
R9210:Egfem1	UTSW	3	29,207,743 (GRCm39)	missense	probably damaging	1.00
R9227:Egfem1	UTSW	3	29,411,317 (GRCm39)	missense	probably benign	0.03
R9230:Egfem1	UTSW	3	29,411,317 (GRCm39)	missense	probably benign	0.03
R9720:Egfem1	UTSW	3	29,716,580 (GRCm39)	missense	probably damaging	1.00
R9745:Egfem1	UTSW	3	29,716,532 (GRCm39)	missense	probably damaging	1.00
X0028:Egfem1	UTSW	3	29,711,295 (GRCm39)	missense	probably damaging	1.00
Z1177:Egfem1	UTSW	3	29,202,602 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- TGTGGTTGCTGTTCAAACCAC -3'
(R):5'- GGAATTGAACTCAAATACCATCAGC -3'

Sequencing Primer
(F):5'- CTTGTTTACATAGTGGAGCAAAACG -3'
(R):5'- AGAAATCTTTCTCCTCAGCCC -3'

Posted On

2017-02-28