Incidental Mutation 'R0047:Egflam'
ID |
15876 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Egflam
|
Ensembl Gene |
ENSMUSG00000042961 |
Gene Name |
EGF-like, fibronectin type III and laminin G domains |
Synonyms |
pikachurin, nectican |
MMRRC Submission |
038341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0047 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 7282911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 382
(E382A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058593]
[ENSMUST00000096494]
[ENSMUST00000160207]
|
AlphaFold |
Q4VBE4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058593
AA Change: E382A
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055599 Gene: ENSMUSG00000042961 AA Change: E382A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
FN3
|
35 |
123 |
4.52e-9 |
SMART |
FN3
|
142 |
225 |
1.89e-11 |
SMART |
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
EGF_like
|
346 |
381 |
4.28e1 |
SMART |
LamG
|
407 |
543 |
1.04e-34 |
SMART |
EGF
|
563 |
602 |
3.48e-5 |
SMART |
LamG
|
633 |
767 |
1.55e-33 |
SMART |
EGF
|
787 |
820 |
4.35e-6 |
SMART |
LamG
|
852 |
988 |
1.47e-34 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096494
AA Change: E382A
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000094238 Gene: ENSMUSG00000042961 AA Change: E382A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
FN3
|
35 |
123 |
4.52e-9 |
SMART |
FN3
|
142 |
225 |
1.89e-11 |
SMART |
low complexity region
|
256 |
273 |
N/A |
INTRINSIC |
EGF_like
|
346 |
381 |
4.28e1 |
SMART |
LamG
|
407 |
543 |
1.04e-34 |
SMART |
EGF
|
563 |
602 |
3.48e-5 |
SMART |
LamG
|
633 |
767 |
1.55e-33 |
SMART |
EGF
|
787 |
820 |
4.35e-6 |
SMART |
LamG
|
860 |
996 |
1.47e-34 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160273
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162105
|
Meta Mutation Damage Score |
0.3945 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.8%
- 20x: 65.9%
|
Validation Efficiency |
95% (110/116) |
MGI Phenotype |
PHENOTYPE: Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,772,025 (GRCm39) |
T405A |
probably damaging |
Het |
Acer1 |
A |
T |
17: 57,262,624 (GRCm39) |
D175E |
possibly damaging |
Het |
Adamts9 |
G |
A |
6: 92,882,287 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,857 (GRCm39) |
S427P |
probably benign |
Het |
Arid4a |
T |
G |
12: 71,122,193 (GRCm39) |
L858W |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,098,647 (GRCm39) |
F310S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,962,341 (GRCm39) |
L481M |
possibly damaging |
Het |
Bmper |
T |
A |
9: 23,317,982 (GRCm39) |
C534S |
probably damaging |
Het |
Cacna1d |
T |
G |
14: 30,068,747 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,589,812 (GRCm39) |
|
probably null |
Het |
Chchd1 |
T |
C |
14: 20,754,231 (GRCm39) |
S48P |
possibly damaging |
Het |
Cnot7 |
A |
G |
8: 40,948,962 (GRCm39) |
|
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,107 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
T |
A |
7: 26,466,251 (GRCm39) |
D351E |
probably benign |
Het |
Dctn1 |
G |
T |
6: 83,159,614 (GRCm39) |
G31* |
probably null |
Het |
Duox1 |
T |
A |
2: 122,177,122 (GRCm39) |
|
probably benign |
Het |
Ext1 |
T |
C |
15: 53,208,542 (GRCm39) |
N73S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,892,214 (GRCm39) |
M866K |
probably damaging |
Het |
Gm3333 |
A |
G |
13: 62,422,285 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
T |
A |
13: 59,792,914 (GRCm39) |
H197L |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,746,579 (GRCm39) |
K132E |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,710,339 (GRCm39) |
|
probably benign |
Het |
Hrc |
T |
A |
7: 44,986,113 (GRCm39) |
S421R |
probably benign |
Het |
Ighg2c |
T |
A |
12: 113,251,788 (GRCm39) |
|
probably benign |
Het |
Ihh |
A |
G |
1: 74,985,750 (GRCm39) |
I245T |
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,300,010 (GRCm39) |
M65K |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,314,106 (GRCm39) |
I33V |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,102,181 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,328,600 (GRCm39) |
I188T |
possibly damaging |
Het |
Lpp |
T |
A |
16: 24,480,550 (GRCm39) |
|
probably benign |
Het |
Mark2 |
A |
C |
19: 7,260,942 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,451,910 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,928,727 (GRCm39) |
|
probably benign |
Het |
Mtr |
A |
T |
13: 12,237,112 (GRCm39) |
S569T |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,258,063 (GRCm39) |
S1752T |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,063,489 (GRCm39) |
L565H |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,658,660 (GRCm39) |
K296E |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,740,780 (GRCm39) |
|
probably null |
Het |
Or51ab3 |
A |
T |
7: 103,201,529 (GRCm39) |
Y179F |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,574 (GRCm39) |
G152D |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,479,953 (GRCm39) |
E82G |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,901 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,901,618 (GRCm39) |
E548V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,073,895 (GRCm39) |
E273* |
probably null |
Het |
Ppp2r1b |
C |
T |
9: 50,772,873 (GRCm39) |
R117* |
probably null |
Het |
Psg-ps1 |
A |
G |
7: 17,411,806 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1l |
G |
A |
1: 160,059,359 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,437,204 (GRCm39) |
M49K |
possibly damaging |
Het |
Rtel1 |
T |
G |
2: 180,965,198 (GRCm39) |
I146M |
probably damaging |
Het |
Sdr9c7 |
A |
T |
10: 127,739,541 (GRCm39) |
M219L |
probably benign |
Het |
Serpinb1a |
A |
T |
13: 33,034,259 (GRCm39) |
L44Q |
probably damaging |
Het |
Slc13a4 |
A |
G |
6: 35,264,297 (GRCm39) |
I190T |
possibly damaging |
Het |
Slc46a2 |
A |
G |
4: 59,914,392 (GRCm39) |
L177P |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,227,068 (GRCm39) |
V167M |
possibly damaging |
Het |
Snrnp200 |
C |
T |
2: 127,076,874 (GRCm39) |
|
probably benign |
Het |
Snx13 |
C |
A |
12: 35,151,123 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,494,402 (GRCm39) |
A828T |
probably damaging |
Het |
Spic |
A |
G |
10: 88,511,803 (GRCm39) |
L151P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,669,724 (GRCm39) |
Q535K |
probably damaging |
Het |
Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,446,443 (GRCm39) |
|
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,606,547 (GRCm39) |
I469T |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,147,954 (GRCm39) |
|
probably benign |
Het |
Top2a |
T |
A |
11: 98,888,682 (GRCm39) |
I1260L |
probably benign |
Het |
Treml1 |
C |
A |
17: 48,672,008 (GRCm39) |
S91* |
probably null |
Het |
Trmt11 |
T |
C |
10: 30,411,239 (GRCm39) |
N418S |
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,974,667 (GRCm39) |
Y801C |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,414,403 (GRCm39) |
A2782V |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,763,333 (GRCm39) |
L29P |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,899 (GRCm39) |
I480T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,153 (GRCm39) |
V147E |
probably damaging |
Het |
|
Other mutations in Egflam |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01600:Egflam
|
APN |
15 |
7,249,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02352:Egflam
|
APN |
15 |
7,263,706 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02359:Egflam
|
APN |
15 |
7,263,706 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02389:Egflam
|
APN |
15 |
7,279,559 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02400:Egflam
|
APN |
15 |
7,276,534 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02530:Egflam
|
APN |
15 |
7,252,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02892:Egflam
|
APN |
15 |
7,319,277 (GRCm39) |
missense |
probably benign |
|
R0047:Egflam
|
UTSW |
15 |
7,282,911 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0345:Egflam
|
UTSW |
15 |
7,319,475 (GRCm39) |
splice site |
probably null |
|
R0504:Egflam
|
UTSW |
15 |
7,252,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Egflam
|
UTSW |
15 |
7,263,718 (GRCm39) |
missense |
probably benign |
0.19 |
R0573:Egflam
|
UTSW |
15 |
7,271,906 (GRCm39) |
nonsense |
probably null |
|
R0609:Egflam
|
UTSW |
15 |
7,283,004 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0648:Egflam
|
UTSW |
15 |
7,237,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Egflam
|
UTSW |
15 |
7,279,509 (GRCm39) |
critical splice donor site |
probably null |
|
R1099:Egflam
|
UTSW |
15 |
7,281,903 (GRCm39) |
missense |
probably benign |
0.00 |
R1711:Egflam
|
UTSW |
15 |
7,319,396 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1842:Egflam
|
UTSW |
15 |
7,333,422 (GRCm39) |
missense |
probably benign |
0.00 |
R1964:Egflam
|
UTSW |
15 |
7,276,586 (GRCm39) |
missense |
probably damaging |
0.97 |
R2001:Egflam
|
UTSW |
15 |
7,272,048 (GRCm39) |
missense |
probably benign |
0.18 |
R2008:Egflam
|
UTSW |
15 |
7,267,285 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2134:Egflam
|
UTSW |
15 |
7,263,760 (GRCm39) |
missense |
probably damaging |
0.97 |
R2852:Egflam
|
UTSW |
15 |
7,249,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R2853:Egflam
|
UTSW |
15 |
7,249,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R4257:Egflam
|
UTSW |
15 |
7,283,907 (GRCm39) |
splice site |
probably null |
|
R4346:Egflam
|
UTSW |
15 |
7,263,759 (GRCm39) |
nonsense |
probably null |
|
R4380:Egflam
|
UTSW |
15 |
7,273,350 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4538:Egflam
|
UTSW |
15 |
7,281,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R4746:Egflam
|
UTSW |
15 |
7,254,120 (GRCm39) |
splice site |
probably null |
|
R4909:Egflam
|
UTSW |
15 |
7,249,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R5027:Egflam
|
UTSW |
15 |
7,283,125 (GRCm39) |
missense |
probably benign |
0.00 |
R5314:Egflam
|
UTSW |
15 |
7,333,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R5439:Egflam
|
UTSW |
15 |
7,254,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R5495:Egflam
|
UTSW |
15 |
7,280,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5626:Egflam
|
UTSW |
15 |
7,280,688 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5931:Egflam
|
UTSW |
15 |
7,273,338 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5977:Egflam
|
UTSW |
15 |
7,347,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6258:Egflam
|
UTSW |
15 |
7,263,773 (GRCm39) |
missense |
probably damaging |
0.98 |
R6395:Egflam
|
UTSW |
15 |
7,261,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R6497:Egflam
|
UTSW |
15 |
7,280,784 (GRCm39) |
splice site |
probably null |
|
R6736:Egflam
|
UTSW |
15 |
7,249,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7586:Egflam
|
UTSW |
15 |
7,238,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7764:Egflam
|
UTSW |
15 |
7,347,736 (GRCm39) |
missense |
probably damaging |
0.98 |
R7781:Egflam
|
UTSW |
15 |
7,283,227 (GRCm39) |
missense |
probably null |
0.94 |
R7842:Egflam
|
UTSW |
15 |
7,280,675 (GRCm39) |
missense |
probably null |
1.00 |
R8011:Egflam
|
UTSW |
15 |
7,276,525 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8080:Egflam
|
UTSW |
15 |
7,427,561 (GRCm39) |
missense |
probably benign |
0.09 |
R8175:Egflam
|
UTSW |
15 |
7,241,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R8300:Egflam
|
UTSW |
15 |
7,283,932 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8553:Egflam
|
UTSW |
15 |
7,237,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Egflam
|
UTSW |
15 |
7,267,249 (GRCm39) |
missense |
probably damaging |
0.98 |
R9076:Egflam
|
UTSW |
15 |
7,237,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Egflam
|
UTSW |
15 |
7,281,942 (GRCm39) |
missense |
probably benign |
0.02 |
R9518:Egflam
|
UTSW |
15 |
7,319,263 (GRCm39) |
critical splice donor site |
probably null |
|
R9557:Egflam
|
UTSW |
15 |
7,241,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9745:Egflam
|
UTSW |
15 |
7,333,419 (GRCm39) |
missense |
probably benign |
0.38 |
R9800:Egflam
|
UTSW |
15 |
7,279,525 (GRCm39) |
missense |
probably benign |
0.01 |
X0024:Egflam
|
UTSW |
15 |
7,333,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-01-08 |