Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Efemp1'

573838

Institutional Source

Beutler Lab

Gene Symbol

Efemp1

Ensembl Gene

ENSMUSG00000020467

Gene Name

epidermal growth factor-containing fibulin-like extracellular matrix protein 1

Synonyms

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28803204-28876743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28817501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 39 (R39S)

Ref Sequence

ENSEMBL: ENSMUSP00000020759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020759]

AlphaFold

Q8BPB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020759
AA Change: R39S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020759
Gene: ENSMUSG00000020467
AA Change: R39S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
EGF_like	44	76	9.53e-2	SMART
low complexity region	87	104	N/A	INTRINSIC
EGF_CA	173	213	5.78e-11	SMART
EGF_CA	214	253	2.35e-11	SMART
EGF_CA	254	293	1.22e-9	SMART
EGF_CA	294	333	1.35e-11	SMART
EGF_like	334	378	3.49e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	Het

Other mutations in Efemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:Efemp1	APN	11	28,876,223 (GRCm39)	missense	probably benign	0.32
IGL01862:Efemp1	APN	11	28,871,428 (GRCm39)	missense	probably damaging	0.97
IGL02568:Efemp1	APN	11	28,866,971 (GRCm39)	critical splice donor site	probably null
IGL03175:Efemp1	APN	11	28,876,259 (GRCm39)	missense	probably benign	0.04
IGL03014:Efemp1	UTSW	11	28,876,218 (GRCm39)	missense	probably damaging	0.96
R0973:Efemp1	UTSW	11	28,804,538 (GRCm39)	missense	probably damaging	1.00
R0973:Efemp1	UTSW	11	28,804,538 (GRCm39)	missense	probably damaging	1.00
R0974:Efemp1	UTSW	11	28,804,538 (GRCm39)	missense	probably damaging	1.00
R1678:Efemp1	UTSW	11	28,866,942 (GRCm39)	missense	probably benign	0.00
R1701:Efemp1	UTSW	11	28,871,750 (GRCm39)	missense	possibly damaging	0.68
R1831:Efemp1	UTSW	11	28,871,442 (GRCm39)	missense	possibly damaging	0.91
R2016:Efemp1	UTSW	11	28,871,613 (GRCm39)	missense	probably damaging	1.00
R2017:Efemp1	UTSW	11	28,871,613 (GRCm39)	missense	probably damaging	1.00
R2024:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2025:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2027:Efemp1	UTSW	11	28,864,696 (GRCm39)	missense	possibly damaging	0.85
R2084:Efemp1	UTSW	11	28,865,763 (GRCm39)	missense	probably damaging	1.00
R2396:Efemp1	UTSW	11	28,817,941 (GRCm39)	missense	possibly damaging	0.83
R4803:Efemp1	UTSW	11	28,871,795 (GRCm39)	missense	possibly damaging	0.84
R4817:Efemp1	UTSW	11	28,876,241 (GRCm39)	missense	probably damaging	1.00
R5201:Efemp1	UTSW	11	28,864,590 (GRCm39)	missense	probably benign	0.05
R5297:Efemp1	UTSW	11	28,817,868 (GRCm39)	missense	probably damaging	0.99
R5534:Efemp1	UTSW	11	28,817,758 (GRCm39)	missense	probably damaging	1.00
R5839:Efemp1	UTSW	11	28,871,418 (GRCm39)	missense	possibly damaging	0.95
R6037:Efemp1	UTSW	11	28,871,760 (GRCm39)	missense	probably damaging	1.00
R6037:Efemp1	UTSW	11	28,871,760 (GRCm39)	missense	probably damaging	1.00
R6314:Efemp1	UTSW	11	28,864,603 (GRCm39)	missense	probably benign	0.12
R7067:Efemp1	UTSW	11	28,817,926 (GRCm39)	missense	probably damaging	1.00
R8223:Efemp1	UTSW	11	28,804,528 (GRCm39)	missense	probably benign	0.13
R8243:Efemp1	UTSW	11	28,871,690 (GRCm39)	missense	probably damaging	0.99
R8279:Efemp1	UTSW	11	28,871,795 (GRCm39)	missense	possibly damaging	0.52
R8313:Efemp1	UTSW	11	28,860,691 (GRCm39)	missense	probably benign	0.39
R8378:Efemp1	UTSW	11	28,871,765 (GRCm39)	missense	probably damaging	0.98
Z1177:Efemp1	UTSW	11	28,817,909 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTTGTCTCAAAGGGGAGAGTG -3'
(R):5'- AGGAAGGCAGAGATATCCTCC -3'

Sequencing Primer
(F):5'- GTGTGGAACTGACAACCCCTCTC -3'
(R):5'- CCTTTGCAAGCATCTGGGACAATG -3'

Posted On

2019-09-13