Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:Egfem1'

164180

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

039532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29136172-29745358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29711314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 241 (N241D)

Ref Sequence

ENSEMBL: ENSMUSP00000112907 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118531
AA Change: N241D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: N241D

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: N298D

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: N298D

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: N88D

SMART Domains

Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: N88D

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	T	A	9: 50,652,601 (GRCm39)	T58S	possibly damaging	Het
Alox12e	A	G	11: 70,211,608 (GRCm39)	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874 (GRCm39)	D344G	probably damaging	Het
Atg14	A	T	14: 47,784,696 (GRCm39)		probably null	Het
Bcr	G	T	10: 74,896,957 (GRCm39)	E34*	probably null	Het
Birc6	C	T	17: 74,941,848 (GRCm39)	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,201,059 (GRCm39)	N326K	probably benign	Het
Brme1	C	A	8: 84,889,026 (GRCm39)	T123K	possibly damaging	Het
Ccdc188	A	C	16: 18,037,154 (GRCm39)	T242P	possibly damaging	Het
Ccn6	G	A	10: 39,029,239 (GRCm39)	R230W	probably damaging	Het
Cdin1	T	A	2: 115,469,494 (GRCm39)	N74K	probably benign	Het
Chsy3	A	T	18: 59,541,985 (GRCm39)	E374D	probably benign	Het
Clca4b	A	T	3: 144,621,229 (GRCm39)	V615E	probably damaging	Het
Clcnka	C	A	4: 141,116,758 (GRCm39)	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,721,282 (GRCm39)	C1450R	probably damaging	Het
Cul7	C	A	17: 46,962,673 (GRCm39)	D101E	probably damaging	Het
Cyp27b1	G	A	10: 126,887,580 (GRCm39)		probably null	Het
Cyp2d22	A	G	15: 82,256,137 (GRCm39)	S404P	probably damaging	Het
Dclk3	G	A	9: 111,297,614 (GRCm39)	S386N	probably benign	Het
Dnah10	G	A	5: 124,854,953 (GRCm39)	D1953N	possibly damaging	Het
Dst	T	A	1: 34,303,596 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,710,279 (GRCm39)	F312S	probably damaging	Het
Esp34	T	A	17: 38,865,219 (GRCm39)		probably benign	Het
Foxd2	T	A	4: 114,765,115 (GRCm39)	T302S	unknown	Het
Fzd6	A	T	15: 38,894,394 (GRCm39)	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,241,930 (GRCm39)		probably benign	Het
Gna14	T	C	19: 16,511,133 (GRCm39)	S61P	possibly damaging	Het
Grap	A	T	11: 61,551,124 (GRCm39)	Y52F	probably benign	Het
H2-T3	T	C	17: 36,500,320 (GRCm39)	Y125C	probably damaging	Het
Hax1	C	A	3: 89,903,164 (GRCm39)	E212D	probably damaging	Het
Hecw1	A	C	13: 14,491,077 (GRCm39)	S638R	probably benign	Het
Hira	A	T	16: 18,715,219 (GRCm39)	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,140,320 (GRCm39)	D222V	probably damaging	Het
Hycc2	T	A	1: 58,591,427 (GRCm39)	R91*	probably null	Het
Jph2	C	T	2: 163,181,191 (GRCm39)	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,233,242 (GRCm39)	S762T	probably damaging	Het
Kat6b	T	A	14: 21,669,024 (GRCm39)	C267S	probably benign	Het
Klk6	A	G	7: 43,481,058 (GRCm39)	N250S	probably benign	Het
Lbp	T	C	2: 158,161,634 (GRCm39)	L232S	probably damaging	Het
Lcn9	A	T	2: 25,713,715 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,025,068 (GRCm39)	H213R	probably benign	Het
Lrrc9	A	T	12: 72,507,599 (GRCm39)	K367*	probably null	Het
Lyst	A	G	13: 13,809,067 (GRCm39)	I246V	probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mst1r	T	C	9: 107,790,544 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,733,020 (GRCm39)	E909G	probably benign	Het
Nipbl	A	T	15: 8,379,773 (GRCm39)	D1006E	probably benign	Het
Or4k5	C	A	14: 50,386,245 (GRCm39)	V29F	probably benign	Het
Or5d37	A	G	2: 87,923,630 (GRCm39)	F217L	probably benign	Het
Or8d1b	A	T	9: 38,887,058 (GRCm39)	I29F	probably benign	Het
Otog	A	G	7: 45,945,402 (GRCm39)	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,652,052 (GRCm39)	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,191,264 (GRCm39)	G211D	probably benign	Het
Pp2d1	T	C	17: 53,814,883 (GRCm39)	S614G	probably benign	Het
Prdx6	G	A	1: 161,071,833 (GRCm39)	A111V	probably damaging	Het
Prorp	T	A	12: 55,426,172 (GRCm39)	D138E	probably damaging	Het
Prss51	G	A	14: 64,333,619 (GRCm39)		probably null	Het
Psmd6	C	T	14: 14,116,819 (GRCm38)		probably benign	Het
Pten	T	A	19: 32,797,250 (GRCm39)	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,332,311 (GRCm39)	H2295P	probably benign	Het
Rgs11	T	C	17: 26,427,257 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,018 (GRCm39)	E408G	probably damaging	Het
Septin4	G	T	11: 87,458,244 (GRCm39)	R206L	probably damaging	Het
Slc38a7	T	C	8: 96,575,122 (GRCm39)	T53A	probably benign	Het
Spata31g1	A	C	4: 42,972,543 (GRCm39)	K625N	possibly damaging	Het
Sptbn1	A	G	11: 30,063,909 (GRCm39)	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,153,019 (GRCm39)	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,771,233 (GRCm39)		probably null	Het
Ttc21a	C	A	9: 119,786,013 (GRCm39)	D670E	probably benign	Het
Ttn	A	G	2: 76,574,855 (GRCm39)	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,153,151 (GRCm39)	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,077,254 (GRCm39)	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,727,478 (GRCm39)		probably benign	Het
Zfp647	A	G	15: 76,795,403 (GRCm39)	V419A	possibly 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
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
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'- ATTTTCAAGAACCCACAGGCACTGA -3'
(R):5'- GTGGTGTGGCTCACGATGTAACAA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GCTCACGATGTAACAATGTGTTTTAG -3'

Posted On

2014-03-28