Incidental Mutation 'IGL02892:Egflam'
| ID |
363235 |
| 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 # |
IGL02892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7319277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 234
(V234I)
|
| 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: V234I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: V234I
| 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: V234I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: V234I
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,651,771 (GRCm39) |
L493* |
probably null |
Het |
| Adam32 |
T |
A |
8: 25,368,727 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,771 (GRCm39) |
D744G |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,912,268 (GRCm39) |
V530A |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,080 (GRCm39) |
N2095K |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,581,642 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,870,160 (GRCm39) |
|
probably null |
Het |
| Cep350 |
G |
A |
1: 155,744,552 (GRCm39) |
T2089I |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,703,543 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
C |
T |
5: 30,702,051 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,336,970 (GRCm39) |
T280A |
probably benign |
Het |
| Coq5 |
T |
A |
5: 115,432,876 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,192 (GRCm39) |
I339V |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,518 (GRCm39) |
V47A |
possibly damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,585,544 (GRCm39) |
I151T |
probably benign |
Het |
| Defb7 |
T |
A |
8: 19,547,678 (GRCm39) |
F61Y |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,104,066 (GRCm39) |
K773* |
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,158,458 (GRCm39) |
R347H |
possibly damaging |
Het |
| Emilin3 |
C |
T |
2: 160,751,069 (GRCm39) |
V180M |
possibly damaging |
Het |
| Fam76b |
A |
T |
9: 13,740,117 (GRCm39) |
E50V |
probably null |
Het |
| Fat3 |
A |
T |
9: 16,288,858 (GRCm39) |
Y222N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Gucy1a2 |
G |
T |
9: 3,634,471 (GRCm39) |
G172C |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,551,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
G |
A |
8: 111,325,591 (GRCm39) |
V4667M |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,745,418 (GRCm39) |
S408G |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,359,821 (GRCm39) |
Q185R |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,494,802 (GRCm39) |
V301A |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,751,399 (GRCm39) |
N220S |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,946,032 (GRCm39) |
M249K |
possibly damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,010,074 (GRCm39) |
D1162V |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,082,037 (GRCm39) |
I229V |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,756,925 (GRCm39) |
L160P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,338,094 (GRCm39) |
Y466C |
probably damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,062,342 (GRCm39) |
D525V |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,412,108 (GRCm39) |
K641R |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,045,425 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,908,680 (GRCm39) |
S502P |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,220 (GRCm39) |
V450A |
probably benign |
Het |
| Prss42 |
G |
A |
9: 110,628,458 (GRCm39) |
V201M |
probably damaging |
Het |
| Pus7 |
A |
T |
5: 23,959,554 (GRCm39) |
N322K |
probably damaging |
Het |
| Riok1 |
G |
T |
13: 38,224,041 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,984,561 (GRCm39) |
T64S |
probably benign |
Het |
| Rmnd5a |
T |
A |
6: 71,391,798 (GRCm39) |
M131L |
probably benign |
Het |
| Rtbdn |
C |
T |
8: 85,681,718 (GRCm39) |
R170C |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,226,030 (GRCm39) |
|
probably null |
Het |
| Slc2a6 |
A |
G |
2: 26,914,305 (GRCm39) |
Y271H |
probably benign |
Het |
| Slc5a5 |
T |
G |
8: 71,345,161 (GRCm39) |
T49P |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,593 (GRCm39) |
V84A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,623,204 (GRCm39) |
T148A |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,178 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,339,660 (GRCm39) |
V266E |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,384,804 (GRCm39) |
I511F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,343,479 (GRCm39) |
D128V |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,120 (GRCm39) |
L423P |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,679 (GRCm39) |
L145P |
probably damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,121 (GRCm39) |
D376E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,144,642 (GRCm39) |
I1484F |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,102,554 (GRCm39) |
V943M |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,822 (GRCm39) |
K301R |
probably damaging |
Het |
| Vmn1r62 |
G |
T |
7: 5,679,202 (GRCm39) |
M294I |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,153,652 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,341,140 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,096,438 (GRCm39) |
W748R |
possibly 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 |
|
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 |
2015-12-18 |
Incidental Mutation