Mutagenetix > Incidental Mutation

Incidental Mutation 'R4997:Egfem1'

385323

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

042591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29136172-29745358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29207739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 122 (H122R)

Ref Sequence

ENSEMBL: ENSMUSP00000114314 (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: H143R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: H143R

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: H143R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: H143R

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: H122R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114314
Gene: ENSMUSG00000063600
AA Change: H122R

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: H130R

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

SMART Domains

Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600
AA Change: H130R

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: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	A	T	14: 33,775,623 (GRCm39)	M1L	probably benign	Het
Abca7	C	A	10: 79,843,154 (GRCm39)	Q1210K	possibly damaging	Het
Abcc4	C	T	14: 118,753,915 (GRCm39)	W1024*	probably null	Het
Accs	A	T	2: 93,672,228 (GRCm39)	Y213*	probably null	Het
Adam6a	G	T	12: 113,508,991 (GRCm39)	G455C	probably damaging	Het
Adcy1	A	C	11: 7,111,298 (GRCm39)	Y863S	probably benign	Het
Adgrg1	A	G	8: 95,736,148 (GRCm39)	D434G	probably damaging	Het
Afap1l1	C	T	18: 61,884,879 (GRCm39)	R202Q	probably benign	Het
Aldh3a1	T	C	11: 61,103,137 (GRCm39)	V27A	probably benign	Het
Antxr2	A	G	5: 98,125,553 (GRCm39)	F235L	probably benign	Het
Arhgap23	T	A	11: 97,342,846 (GRCm39)	V376E	probably damaging	Het
Brca1	A	C	11: 101,415,159 (GRCm39)	S992A	probably damaging	Het
Brcc3dc	A	G	10: 108,535,649 (GRCm39)	I102T	probably benign	Het
Calcrl	A	T	2: 84,181,592 (GRCm39)	C185*	probably null	Het
Cep152	T	C	2: 125,428,271 (GRCm39)	T787A	probably benign	Het
Coch	T	A	12: 51,649,964 (GRCm39)		probably null	Het
Col5a1	T	A	2: 27,922,794 (GRCm39)	Y287*	probably null	Het
Dis3l	A	G	9: 64,219,224 (GRCm39)	S569P	possibly damaging	Het
Dnai1	A	G	4: 41,597,919 (GRCm39)	I74V	possibly damaging	Het
Dpy19l4	A	G	4: 11,287,493 (GRCm39)	V394A	probably benign	Het
Endou	A	G	15: 97,617,458 (GRCm39)	L164P	probably damaging	Het
Epgn	A	G	5: 91,180,098 (GRCm39)	E80G	possibly damaging	Het
Fcgbpl1	T	G	7: 27,843,349 (GRCm39)	S746A	possibly damaging	Het
Fitm1	T	C	14: 55,814,364 (GRCm39)	S287P	probably benign	Het
Foxm1	A	G	6: 128,342,731 (GRCm39)	N22D	probably benign	Het
Gsdmc	A	T	15: 63,648,629 (GRCm39)	M426K	probably damaging	Het
Hmcn2	T	A	2: 31,291,720 (GRCm39)	V2418D	probably damaging	Het
Hs3st2	T	A	7: 121,099,679 (GRCm39)	L175Q	possibly damaging	Het
Il1r2	T	C	1: 40,160,206 (GRCm39)		probably null	Het
Il27ra	A	T	8: 84,766,156 (GRCm39)	Y209*	probably null	Het
Inpp5a	A	T	7: 138,980,654 (GRCm39)	S31C	probably benign	Het
Invs	A	G	4: 48,396,332 (GRCm39)	D335G	probably damaging	Het
Isg15	C	T	4: 156,284,154 (GRCm39)	E125K	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama4	C	A	10: 38,968,262 (GRCm39)	T1468K	probably damaging	Het
Lce1a2	A	G	3: 92,576,395 (GRCm39)	S56P	unknown	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lmf1	G	A	17: 25,807,650 (GRCm39)	W164*	probably null	Het
Mad2l1bp	G	T	17: 46,463,804 (GRCm39)	C73*	probably null	Het
Mpzl1	A	C	1: 165,429,350 (GRCm39)	V230G	probably damaging	Het
Myo3b	A	G	2: 70,088,427 (GRCm39)	T869A	possibly damaging	Het
Ncor2	T	C	5: 125,111,074 (GRCm39)	H1316R	probably damaging	Het
Nlrp1b	T	A	11: 71,109,160 (GRCm39)	I114F	probably damaging	Het
Nsun7	A	G	5: 66,453,182 (GRCm39)	I632M	probably benign	Het
Nubp1	T	C	16: 10,239,185 (GRCm39)	I234T	probably benign	Het
Olfml1	A	G	7: 107,170,413 (GRCm39)	D100G	probably damaging	Het
Or1e1b-ps1	T	A	11: 73,845,612 (GRCm39)	L32Q	probably damaging	Het
Or5p73	C	A	7: 108,064,701 (GRCm39)	Q57K	probably benign	Het
Or7g23	A	T	9: 19,086,627 (GRCm39)	L115Q	probably damaging	Het
Osmr	G	T	15: 6,845,120 (GRCm39)	P882Q	probably benign	Het
Peg10	TCAGGATCC	TCAGGATCCCCAGCAGGATCC	6: 4,756,457 (GRCm39)		probably benign	Het
Per2	T	A	1: 91,378,505 (GRCm39)	T15S	probably benign	Het
Piezo2	A	G	18: 63,216,184 (GRCm39)	Y1184H	probably damaging	Het
Pik3c2b	C	T	1: 133,032,819 (GRCm39)	A1560V	probably damaging	Het
Pik3cd	A	C	4: 149,743,441 (GRCm39)	L256R	probably damaging	Het
Ppl	C	A	16: 4,907,235 (GRCm39)	R1020L	probably damaging	Het
Ppp1r10	A	G	17: 36,234,976 (GRCm39)	N60S	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prkci	T	C	3: 31,085,375 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,112,323 (GRCm39)	Y1929C	probably damaging	Het
Prss12	T	C	3: 123,240,857 (GRCm39)	V17A	probably benign	Het
Qtrt1	A	G	9: 21,328,654 (GRCm39)	N206S	probably benign	Het
Rad54l2	A	C	9: 106,600,108 (GRCm39)	S50A	possibly damaging	Het
Rhov	C	T	2: 119,100,949 (GRCm39)	R96H	probably damaging	Het
Rph3a	A	T	5: 121,101,906 (GRCm39)	V110E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,610,192 (GRCm39)	N646K	probably benign	Het
Scn8a	A	G	15: 100,854,935 (GRCm39)	T141A	probably damaging	Het
Serping1	T	C	2: 84,600,629 (GRCm39)	R238G	possibly damaging	Het
Shank3	T	A	15: 89,433,901 (GRCm39)	W1474R	probably damaging	Het
Slc16a12	T	A	19: 34,652,358 (GRCm39)	M263L	probably benign	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Spata31	G	A	13: 65,067,537 (GRCm39)	M66I	probably benign	Het
Spem2	T	C	11: 69,708,558 (GRCm39)	I136V	probably benign	Het
Supt5	T	C	7: 28,015,462 (GRCm39)	H925R	probably benign	Het
Syk	A	T	13: 52,766,484 (GRCm39)	K190*	probably null	Het
Thsd1	T	A	8: 22,733,340 (GRCm39)	V129D	probably damaging	Het
Tiprl	A	G	1: 165,047,759 (GRCm39)	V174A	possibly damaging	Het
Tmed4	T	A	11: 6,224,500 (GRCm39)		probably null	Het
Tnfrsf19	T	C	14: 61,208,658 (GRCm39)	T288A	probably benign	Het
Tnfrsf25	T	C	4: 152,202,153 (GRCm39)		probably null	Het
Tpd52	A	G	3: 9,000,056 (GRCm39)	L121S	probably damaging	Het
Trim30a	T	A	7: 104,060,827 (GRCm39)	K316N	probably benign	Het
Ttc3	T	G	16: 94,253,841 (GRCm39)	D1221E	probably damaging	Het
Ttn	C	T	2: 76,714,403 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,776,615 (GRCm39)	I1514V	probably benign	Het
Ulk2	T	C	11: 61,689,982 (GRCm39)	T671A	probably benign	Het
Wasf1	C	T	10: 40,810,600 (GRCm39)	P281S	probably damaging	Het
Wnt10b	C	A	15: 98,672,084 (GRCm39)	R211L	probably damaging	Het
Xpnpep3	T	A	15: 81,332,577 (GRCm39)	C371*	probably null	Het
Zfp41	C	T	15: 75,490,617 (GRCm39)		probably benign	Het
Zfp553	T	A	7: 126,834,683 (GRCm39)	N79K	probably benign	Het
Zmynd8	G	T	2: 165,634,736 (GRCm39)	D1096E	probably benign	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
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
R5928:Egfem1	UTSW	3	29,637,077 (GRCm39)	missense	possibly damaging	0.92
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'- GGCCAGTGGAAACTTCTAGATC -3'
(R):5'- GCCCTTTGAACTCTTAAAAGTGAAG -3'

Sequencing Primer
(F):5'- CTAACTGTCCTCCTATTGCA -3'
(R):5'- TGAAGACTTACAACTAAACAACAAGG -3'

Posted On

2016-05-10