Incidental Mutation 'R5626:Egflam'
| ID |
441853 |
| 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 |
043165-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7280688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 446
(S446P)
|
| 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: S446P
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: S446P
| 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: S446P
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: S446P
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
C |
3: 137,986,171 (GRCm39) |
V53L |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,737 (GRCm39) |
Q514* |
probably null |
Het |
| Calhm2 |
A |
C |
19: 47,121,558 (GRCm39) |
C204G |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,478,897 (GRCm39) |
N119D |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,471,980 (GRCm39) |
L133P |
probably damaging |
Het |
| Clcn4 |
A |
T |
7: 7,292,017 (GRCm39) |
V598E |
probably damaging |
Het |
| Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,266,003 (GRCm39) |
H122R |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,575 (GRCm39) |
T2697A |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,564 (GRCm39) |
I117F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,036,604 (GRCm39) |
I1922V |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,784,841 (GRCm39) |
|
probably null |
Het |
| Gphn |
A |
C |
12: 78,730,671 (GRCm39) |
I769L |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,053,929 (GRCm39) |
|
probably null |
Het |
| Hira |
G |
T |
16: 18,746,262 (GRCm39) |
Q468H |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,532,318 (GRCm39) |
G3154E |
probably damaging |
Het |
| Ighv16-1 |
G |
A |
12: 114,032,472 (GRCm39) |
T92M |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,943 (GRCm39) |
E380G |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,419 (GRCm39) |
F380L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Ncbp1 |
G |
A |
4: 46,161,290 (GRCm39) |
S422N |
probably damaging |
Het |
| Pcolce |
T |
A |
5: 137,608,661 (GRCm39) |
T26S |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,158 (GRCm39) |
I51V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,643 (GRCm39) |
S1041G |
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,761,629 (GRCm39) |
D37G |
probably benign |
Het |
| Prkca |
T |
C |
11: 107,948,641 (GRCm39) |
D116G |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,757,516 (GRCm39) |
D367E |
probably benign |
Het |
| Rbm26 |
T |
C |
14: 105,381,667 (GRCm39) |
T493A |
probably benign |
Het |
| Saxo1 |
T |
C |
4: 86,363,826 (GRCm39) |
E219G |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,460,849 (GRCm39) |
|
probably null |
Het |
| Tmem30c |
T |
C |
16: 57,096,506 (GRCm39) |
N205S |
possibly damaging |
Het |
| Trp53i11 |
A |
G |
2: 93,029,723 (GRCm39) |
N119S |
possibly damaging |
Het |
| Wnt3a |
A |
T |
11: 59,181,409 (GRCm39) |
I22N |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,580,040 (GRCm39) |
Y148H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCAAAGGTTACCCTGCCG -3'
(R):5'- CTCTCTGGAGTCCACATGCTTG -3'
Sequencing Primer
(F):5'- GTCCCAGCTCCCCAGGATTAG -3'
(R):5'- GTCCACATGCTTGCGTCAGTAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation