Incidental Mutation 'R1842:Egflam'
| ID |
205847 |
| 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 |
039867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1842 (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 7333422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 177
(S177P)
|
| 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: S177P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: S177P
| 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: S177P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: S177P
| 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 |
noncoding transcript
Transcript: ENSMUST00000159726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160273
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.8%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,087,865 (GRCm39) |
N1087K |
probably benign |
Het |
| Abcc3 |
G |
A |
11: 94,250,438 (GRCm39) |
T921I |
probably benign |
Het |
| Abr |
T |
A |
11: 76,399,812 (GRCm39) |
I4F |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,330,812 (GRCm39) |
V25D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,231 (GRCm39) |
M1505K |
probably damaging |
Het |
| Alms1-ps2 |
T |
C |
6: 85,773,231 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
C |
G |
12: 8,061,559 (GRCm39) |
T3347S |
probably damaging |
Het |
| Arhgap27 |
C |
A |
11: 103,230,822 (GRCm39) |
G11W |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,393,605 (GRCm39) |
I106F |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,806 (GRCm39) |
D101V |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,188,324 (GRCm39) |
E566G |
probably benign |
Het |
| Cenpm |
T |
C |
15: 82,123,565 (GRCm39) |
S111G |
probably benign |
Het |
| Cep55 |
A |
G |
19: 38,046,348 (GRCm39) |
I34V |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,585 (GRCm39) |
L190S |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,203,200 (GRCm39) |
N703S |
probably null |
Het |
| E030025P04Rik |
G |
A |
11: 109,030,396 (GRCm39) |
L164F |
unknown |
Het |
| Efcab5 |
A |
G |
11: 77,025,701 (GRCm39) |
V538A |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,775,958 (GRCm39) |
C31S |
probably damaging |
Het |
| Eif2d |
C |
A |
1: 131,098,797 (GRCm39) |
Q532K |
probably damaging |
Het |
| Elf3 |
T |
C |
1: 135,184,531 (GRCm39) |
D175G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,012,129 (GRCm39) |
V449A |
probably damaging |
Het |
| Fam110a |
A |
T |
2: 151,811,954 (GRCm39) |
I272N |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,768,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,058 (GRCm39) |
L132P |
probably damaging |
Het |
| Frg2f1 |
A |
T |
4: 119,388,277 (GRCm39) |
V74D |
possibly damaging |
Het |
| Gad1 |
G |
T |
2: 70,404,597 (GRCm39) |
E162D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,177,104 (GRCm39) |
V444A |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,076 (GRCm39) |
T147I |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,425,602 (GRCm39) |
I276V |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,244 (GRCm39) |
H1314R |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,112,544 (GRCm39) |
I836T |
probably damaging |
Het |
| Hspa5 |
A |
G |
2: 34,665,815 (GRCm39) |
D553G |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,410,631 (GRCm39) |
I194N |
probably damaging |
Het |
| Kansl3 |
A |
G |
1: 36,390,825 (GRCm39) |
V304A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,798 (GRCm39) |
S716L |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,409,337 (GRCm39) |
I1594T |
possibly damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,464,152 (GRCm39) |
D15G |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,686,588 (GRCm39) |
L170P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,037 (GRCm39) |
F1108L |
possibly damaging |
Het |
| Mettl5 |
G |
T |
2: 69,715,686 (GRCm39) |
L6I |
unknown |
Het |
| Mfsd14a |
A |
T |
3: 116,426,057 (GRCm39) |
F447I |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,228,546 (GRCm39) |
I642V |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,851,547 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,258 (GRCm39) |
E723K |
probably damaging |
Het |
| Nsun3 |
A |
T |
16: 62,596,755 (GRCm39) |
L121H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,288 (GRCm39) |
M284K |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,603,242 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
T |
18: 7,223,551 (GRCm39) |
D497E |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,759,601 (GRCm39) |
N8Y |
probably damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,471 (GRCm39) |
M286K |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,912 (GRCm39) |
E288G |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,381 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
G |
A |
7: 88,099,730 (GRCm39) |
E82K |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,675,543 (GRCm39) |
E206V |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,533,668 (GRCm39) |
F295L |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,384,063 (GRCm39) |
V521I |
probably damaging |
Het |
| Sgpp1 |
C |
T |
12: 75,762,982 (GRCm39) |
V400M |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,681,891 (GRCm39) |
S152P |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,709,477 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
T |
C |
13: 59,890,320 (GRCm39) |
Y82C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,513 (GRCm39) |
K640R |
probably benign |
Het |
| Svil |
A |
G |
18: 5,062,373 (GRCm39) |
T898A |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,510 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,447,650 (GRCm39) |
S127P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,649 (GRCm39) |
V493D |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,989,988 (GRCm39) |
V288A |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,558 (GRCm39) |
R2239W |
probably damaging |
Het |
| Zscan2 |
A |
C |
7: 80,525,301 (GRCm39) |
K341Q |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAGCTTGTTGGTAAAGG -3'
(R):5'- AGCTGAGACCACTAGCCAAG -3'
Sequencing Primer
(F):5'- CTCAGGGAGTGGACAGTATCACC -3'
(R):5'- GACCACTAGCCAAGTCTAGTTGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation