Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Egfem1'

698765

Institutional Source

Beutler Lab

Gene Symbol

Egfem1

Ensembl Gene

ENSMUSG00000063600

Gene Name

EGF-like and EMI domain containing 1

Synonyms

6130401L20Rik

MMRRC Submission

068983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29136172-29745358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29207743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 144 (C144W)

Ref Sequence

ENSEMBL: ENSMUSP00000112943 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118531
AA Change: C144W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: C144W

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 damaging
Transcript: ENSMUST00000119598
AA Change: C144W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: C144W

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 damaging
Transcript: ENSMUST00000124809
AA Change: C123W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114314
Gene: ENSMUSG00000063600
AA Change: C123W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146943
AA Change: C131W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600
AA Change: C131W

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnaaf2	G	A	12: 69,244,602 (GRCm39)	A153V	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Septin5	A	T	16: 18,442,961 (GRCm39)	I206K	possibly damaging	Het
Sh2d2a	C	A	3: 87,756,655 (GRCm39)	L167I	probably damaging	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	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
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
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
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'- GCCAGTGGAAACTTCTAGATCATG -3'
(R):5'- ATGGCCCTTTGAACTCTTAAAAGTG -3'

Sequencing Primer
(F):5'- CTCTTCCTTGGGAACTCA -3'
(R):5'- CCCTTTGAACTCTTAAAAGTGAAGAC -3'

Posted On

2022-02-07