Incidental Mutation 'R8553:Egflam'
| ID |
659989 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 7237229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 985
(V985E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058593]
[ENSMUST00000096494]
[ENSMUST00000160207]
|
| AlphaFold |
Q4VBE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058593
AA Change: V977E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: V977E
| 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 damaging
Transcript: ENSMUST00000096494
AA Change: V985E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: V985E
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,327 (GRCm39) |
I80M |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,188,021 (GRCm39) |
D176E |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,367 (GRCm39) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,461,833 (GRCm39) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,479,278 (GRCm39) |
I1446L |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,468,981 (GRCm39) |
T779A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,019,540 (GRCm39) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,718,508 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,304 (GRCm39) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,484,724 (GRCm39) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,622,913 (GRCm39) |
L23P |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,252,047 (GRCm39) |
E391G |
possibly damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,810 (GRCm39) |
V201A |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,094,153 (GRCm39) |
D322A |
possibly damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,477,671 (GRCm39) |
D700V |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,847 (GRCm39) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Fancm |
A |
C |
12: 65,173,469 (GRCm39) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,912,944 (GRCm39) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,128,149 (GRCm39) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,773,328 (GRCm39) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,491,661 (GRCm39) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,965 (GRCm39) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,205 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,550,538 (GRCm39) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,244,739 (GRCm39) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,131,405 (GRCm39) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,946,531 (GRCm39) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,347 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,538,232 (GRCm39) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,856,198 (GRCm39) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,344 (GRCm39) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,756 (GRCm39) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,343,252 (GRCm39) |
D109G |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,687 (GRCm39) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,417 (GRCm39) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,984,960 (GRCm39) |
F150L |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,532,694 (GRCm39) |
T92M |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,519,086 (GRCm39) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,539 (GRCm39) |
Y294C |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,508 (GRCm39) |
S605T |
probably benign |
Het |
| Sec23ip |
A |
C |
7: 128,355,777 (GRCm39) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,925 (GRCm39) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,763,067 (GRCm39) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,348,053 (GRCm39) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,273,333 (GRCm39) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,171 (GRCm39) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,643 (GRCm39) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,831,584 (GRCm39) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,082 (GRCm39) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,902,024 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACCTCTGAGTGCAGCATC -3'
(R):5'- CTGCGGAGGTAGAGTCAAAC -3'
Sequencing Primer
(F):5'- ATCAGGCAGGGTCTCCG -3'
(R):5'- CATCAACTGTGTGTGATGTACTCGAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation