Incidental Mutation 'IGL02352:Egflam'
| ID |
289528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Egflam
|
| Ensembl Gene |
ENSMUSG00000042961 |
| Gene Name |
EGF-like, fibronectin type III and laminin G domains |
| Synonyms |
pikachurin, nectican |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7263706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 748
(N748S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058593]
[ENSMUST00000096494]
[ENSMUST00000160207]
|
| AlphaFold |
Q4VBE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058593
AA Change: N748S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: N748S
| 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 |
probably benign
Transcript: ENSMUST00000096494
AA Change: N748S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: N748S
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
| Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cdk5rap3 |
A |
T |
11: 96,807,003 (GRCm39) |
I9N |
probably damaging |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation