Incidental Mutation 'R0266:Efemp2'
| ID |
34967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Efemp2
|
| Ensembl Gene |
ENSMUSG00000024909 |
| Gene Name |
epidermal growth factor-containing fibulin-like extracellular matrix protein 2 |
| Synonyms |
0610011K11Rik, MBP1, fibulin-4, Fbln4, fibulin 4 |
| MMRRC Submission |
038492-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0266 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5523982-5532545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 5528027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 78
(C78F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070118]
[ENSMUST00000124334]
[ENSMUST00000167371]
[ENSMUST00000167827]
[ENSMUST00000167855]
[ENSMUST00000165485]
[ENSMUST00000166253]
[ENSMUST00000168330]
[ENSMUST00000169943]
[ENSMUST00000166303]
[ENSMUST00000167304]
|
| AlphaFold |
Q9WVJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025841
|
| SMART Domains |
Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmsa1
|
9 |
73 |
7e-3 |
SMART |
|
PDB:2KP7|A
|
11 |
90 |
5e-51 |
PDB |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
121 |
229 |
1e-48 |
PDB |
|
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070118
AA Change: C207F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064719
Gene: ENSMUSG00000024909
AA Change: C207F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
46 |
N/A |
INTRINSIC |
|
EGF_like
|
73 |
113 |
2.74e-1 |
SMART |
|
low complexity region
|
115 |
130 |
N/A |
INTRINSIC |
|
EGF_CA
|
142 |
182 |
1.08e-10 |
SMART |
|
EGF_CA
|
183 |
221 |
1.94e-12 |
SMART |
|
EGF_CA
|
222 |
261 |
1.36e-7 |
SMART |
|
EGF_CA
|
262 |
301 |
2.19e-11 |
SMART |
|
EGF
|
305 |
347 |
1.95e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124334
|
| SMART Domains |
Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmsa1
|
9 |
73 |
9e-3 |
SMART |
|
PDB:2KP7|A
|
11 |
90 |
9e-51 |
PDB |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
121 |
229 |
3e-48 |
PDB |
|
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133436
|
| SMART Domains |
Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KP7|A
|
2 |
55 |
5e-30 |
PDB |
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
86 |
194 |
8e-50 |
PDB |
|
ERCC4
|
235 |
337 |
8.31e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167371
AA Change: C147F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129746
Gene: ENSMUSG00000024909
AA Change: C147F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_like
|
54 |
94 |
2.74e-1 |
SMART |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
EGF_CA
|
123 |
161 |
1.94e-12 |
SMART |
|
EGF_CA
|
162 |
201 |
1.36e-7 |
SMART |
|
EGF_CA
|
202 |
241 |
2.19e-11 |
SMART |
|
EGF
|
245 |
287 |
1.95e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167827
AA Change: C120F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127478
Gene: ENSMUSG00000024909
AA Change: C120F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF_like
|
1 |
26 |
9e-10 |
BLAST |
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
EGF_CA
|
55 |
95 |
1.08e-10 |
SMART |
|
EGF_CA
|
96 |
134 |
1.94e-12 |
SMART |
|
EGF_CA
|
135 |
174 |
1.36e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167855
AA Change: C120F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132194
Gene: ENSMUSG00000024909
AA Change: C120F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EGF_like
|
1 |
26 |
4e-10 |
BLAST |
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
EGF_CA
|
55 |
95 |
1.08e-10 |
SMART |
|
EGF_CA
|
96 |
134 |
1.94e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165485
AA Change: C188F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133016
Gene: ENSMUSG00000024909
AA Change: C188F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_like
|
54 |
94 |
2.74e-1 |
SMART |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
EGF_CA
|
123 |
163 |
1.08e-10 |
SMART |
|
EGF_CA
|
164 |
202 |
1.94e-12 |
SMART |
|
EGF_CA
|
203 |
242 |
1.36e-7 |
SMART |
|
EGF_CA
|
243 |
282 |
2.19e-11 |
SMART |
|
EGF
|
286 |
328 |
1.95e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166253
AA Change: C78F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127312
Gene: ENSMUSG00000024909
AA Change: C78F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
EGF_CA
|
54 |
92 |
1.94e-12 |
SMART |
|
EGF_CA
|
93 |
132 |
1.36e-7 |
SMART |
|
EGF_CA
|
133 |
172 |
2.19e-11 |
SMART |
|
EGF
|
176 |
218 |
1.95e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169943
|
| SMART Domains |
Protein: ENSMUSP00000126477
Gene: ENSMUSG00000024909
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164204
|
| SMART Domains |
Protein: ENSMUSP00000128414
Gene: ENSMUSG00000024909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EGF_CA
|
37 |
69 |
5.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164388
|
| SMART Domains |
Protein: ENSMUSP00000131979
Gene: ENSMUSG00000024909
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
4 |
35 |
1.59e1 |
SMART |
|
EGF
|
39 |
81 |
1.95e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166303
|
| SMART Domains |
Protein: ENSMUSP00000128827
Gene: ENSMUSG00000024909
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167304
|
| SMART Domains |
Protein: ENSMUSP00000129982
Gene: ENSMUSG00000024909
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:EGF_CA
|
54 |
86 |
2.4e-9 |
PFAM |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9753 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 94.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
G |
12: 110,635,188 (GRCm39) |
S117P |
possibly damaging |
Het |
| Aars2 |
T |
C |
17: 45,818,436 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,607,185 (GRCm39) |
D466G |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,459,954 (GRCm39) |
N714K |
probably benign |
Het |
| Aqp12 |
C |
A |
1: 92,934,572 (GRCm39) |
H150N |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,558,418 (GRCm39) |
L114* |
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,419,148 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
T |
A |
5: 18,003,250 (GRCm39) |
R265S |
probably benign |
Het |
| Ces4a |
T |
C |
8: 105,868,598 (GRCm39) |
L104S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,628,547 (GRCm39) |
I387V |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,965,521 (GRCm39) |
H566Q |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,486,527 (GRCm39) |
H1646L |
possibly damaging |
Het |
| Dntt |
T |
C |
19: 41,047,566 (GRCm39) |
I503T |
probably damaging |
Het |
| Dynlt1a |
T |
G |
17: 6,367,670 (GRCm39) |
E2D |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,605 (GRCm39) |
E227G |
probably benign |
Het |
| Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,487 (GRCm39) |
|
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
| Gm4782 |
T |
G |
6: 50,587,674 (GRCm39) |
S686R |
probably damaging |
Het |
| Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
| Grm8 |
T |
C |
6: 27,285,895 (GRCm39) |
Y839C |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
| Hes6 |
A |
T |
1: 91,340,026 (GRCm39) |
D143E |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,284,839 (GRCm39) |
E2055G |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,335,365 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
A |
G |
11: 98,358,143 (GRCm39) |
L398P |
probably benign |
Het |
| Il10ra |
A |
T |
9: 45,176,950 (GRCm39) |
I125N |
probably benign |
Het |
| Kcnb2 |
G |
A |
1: 15,783,137 (GRCm39) |
|
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,777,813 (GRCm39) |
R81G |
possibly damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,747,298 (GRCm39) |
|
probably null |
Het |
| Man1a2 |
C |
T |
3: 100,489,350 (GRCm39) |
R543Q |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,176,475 (GRCm39) |
S58T |
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 20,914,610 (GRCm39) |
V62A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,984,498 (GRCm39) |
D1085G |
possibly damaging |
Het |
| Myo5c |
C |
A |
9: 75,191,498 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
T |
9: 18,262,239 (GRCm39) |
|
probably benign |
Het |
| Nat3 |
A |
G |
8: 68,000,432 (GRCm39) |
T104A |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,619 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
| Or7e177 |
A |
T |
9: 20,212,454 (GRCm39) |
R320S |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,004,220 (GRCm39) |
|
probably null |
Het |
| Pax7 |
G |
A |
4: 139,507,047 (GRCm39) |
S330L |
possibly damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,329 (GRCm39) |
D520E |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,449,586 (GRCm39) |
T145A |
probably benign |
Het |
| Phox2b |
G |
A |
5: 67,253,968 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
A |
T |
11: 68,417,234 (GRCm39) |
R59* |
probably null |
Het |
| Pold1 |
A |
G |
7: 44,190,449 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,876,500 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
A |
G |
13: 28,333,970 (GRCm39) |
K158E |
possibly damaging |
Het |
| Rag2 |
T |
G |
2: 101,460,948 (GRCm39) |
C419W |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,193,774 (GRCm39) |
S1395P |
probably damaging |
Het |
| Retnlb |
T |
G |
16: 48,639,022 (GRCm39) |
Y74* |
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,936 (GRCm39) |
S633P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
| Slc6a5 |
C |
A |
7: 49,588,156 (GRCm39) |
|
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,252,247 (GRCm39) |
N481K |
probably benign |
Het |
| Sptlc3 |
T |
A |
2: 139,437,957 (GRCm39) |
I417K |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,099,063 (GRCm39) |
|
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,946,134 (GRCm39) |
|
probably benign |
Het |
| Tchp |
T |
C |
5: 114,847,394 (GRCm39) |
M71T |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 59,904,417 (GRCm39) |
H233L |
probably benign |
Het |
| Tmem217 |
G |
T |
17: 29,745,573 (GRCm39) |
N52K |
possibly damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,725,146 (GRCm39) |
N131K |
probably benign |
Het |
| Vars1 |
T |
A |
17: 35,232,845 (GRCm39) |
S896R |
probably benign |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,359,103 (GRCm39) |
I8N |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,632 (GRCm39) |
Y264N |
probably damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,818 (GRCm39) |
F857V |
possibly damaging |
Het |
|
| Other mutations in Efemp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03011:Efemp2
|
APN |
19 |
5,530,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03079:Efemp2
|
APN |
19 |
5,525,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Efemp2
|
UTSW |
19 |
5,530,677 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0149:Efemp2
|
UTSW |
19 |
5,527,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Efemp2
|
UTSW |
19 |
5,525,091 (GRCm39) |
unclassified |
probably benign |
|
|
R0723:Efemp2
|
UTSW |
19 |
5,530,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Efemp2
|
UTSW |
19 |
5,525,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Efemp2
|
UTSW |
19 |
5,531,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4494:Efemp2
|
UTSW |
19 |
5,530,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Efemp2
|
UTSW |
19 |
5,530,789 (GRCm39) |
unclassified |
probably benign |
|
|
R4889:Efemp2
|
UTSW |
19 |
5,525,148 (GRCm39) |
missense |
probably null |
1.00 |
|
R5156:Efemp2
|
UTSW |
19 |
5,527,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5165:Efemp2
|
UTSW |
19 |
5,525,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Efemp2
|
UTSW |
19 |
5,530,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Efemp2
|
UTSW |
19 |
5,530,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8017:Efemp2
|
UTSW |
19 |
5,527,708 (GRCm39) |
nonsense |
probably null |
|
|
R8019:Efemp2
|
UTSW |
19 |
5,527,708 (GRCm39) |
nonsense |
probably null |
|
|
R8037:Efemp2
|
UTSW |
19 |
5,530,141 (GRCm39) |
nonsense |
probably null |
|
|
R8051:Efemp2
|
UTSW |
19 |
5,526,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Efemp2
|
UTSW |
19 |
5,526,246 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGTGGACGAGTGTACCCAG -3'
(R):5'- ACACAGGAAGGTCCCATAGGAGTTG -3'
Sequencing Primer
(F):5'- TGGTTACCGAAAAATTGGACCC -3'
(R):5'- ACTCATTCACATCTGAGGGTGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation