Incidental Mutation 'R2134:Egflam'
ID |
233669 |
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 |
040137-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2134 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 7263760 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 730
(C730Y)
|
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: C730Y
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000055599 Gene: ENSMUSG00000042961 AA Change: C730Y
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: C730Y
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000094238 Gene: ENSMUSG00000042961 AA Change: C730Y
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
T |
11: 109,921,743 (GRCm39) |
V1437E |
probably null |
Het |
Adam12 |
G |
A |
7: 133,614,017 (GRCm39) |
R80* |
probably null |
Het |
Adgrb3 |
G |
T |
1: 25,133,038 (GRCm39) |
F479L |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,582,485 (GRCm39) |
V1165E |
possibly damaging |
Het |
Atm |
C |
T |
9: 53,379,264 (GRCm39) |
|
probably null |
Het |
Atp11c |
A |
G |
X: 59,322,143 (GRCm39) |
Y593H |
probably damaging |
Het |
Btnl1 |
A |
G |
17: 34,604,608 (GRCm39) |
D463G |
possibly damaging |
Het |
Cdc34b |
T |
G |
11: 94,633,252 (GRCm39) |
W151G |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,538,660 (GRCm39) |
S500P |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,390,839 (GRCm39) |
N998D |
probably benign |
Het |
Ces2e |
T |
A |
8: 105,659,171 (GRCm39) |
|
probably null |
Het |
Chd7 |
A |
G |
4: 8,753,147 (GRCm39) |
Q548R |
probably damaging |
Het |
Chfr |
T |
A |
5: 110,292,627 (GRCm39) |
|
probably null |
Het |
Clu |
A |
G |
14: 66,212,290 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
A |
G |
17: 58,714,717 (GRCm39) |
D1235G |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,943,860 (GRCm39) |
S1205G |
probably benign |
Het |
Ddx47 |
G |
T |
6: 134,992,313 (GRCm39) |
E113* |
probably null |
Het |
Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,623,065 (GRCm39) |
N3553K |
possibly damaging |
Het |
Fam83b |
T |
C |
9: 76,398,298 (GRCm39) |
Y935C |
probably damaging |
Het |
Fam83g |
A |
G |
11: 61,594,510 (GRCm39) |
I681M |
probably benign |
Het |
Fastk |
T |
C |
5: 24,650,139 (GRCm39) |
R3G |
probably damaging |
Het |
Fxr1 |
A |
T |
3: 34,112,196 (GRCm39) |
E367D |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,518,677 (GRCm39) |
D261G |
probably damaging |
Het |
Gm5617 |
T |
C |
9: 48,407,117 (GRCm39) |
S84P |
possibly damaging |
Het |
Hecw1 |
C |
T |
13: 14,552,285 (GRCm39) |
E104K |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,680,422 (GRCm39) |
K265R |
possibly damaging |
Het |
Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
A |
2: 69,341,411 (GRCm39) |
D923V |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
Map1s |
T |
G |
8: 71,366,526 (GRCm39) |
V477G |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,358,708 (GRCm39) |
L542P |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,395 (GRCm39) |
Y562* |
probably null |
Het |
Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
Mylk |
A |
T |
16: 34,806,846 (GRCm39) |
D1697V |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,015,014 (GRCm39) |
F79I |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,228,848 (GRCm39) |
|
probably benign |
Het |
Pde9a |
A |
G |
17: 31,605,284 (GRCm39) |
Y6C |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,934,509 (GRCm39) |
I1808N |
probably damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,800,167 (GRCm39) |
T537S |
probably benign |
Het |
Ppp2r2a |
A |
G |
14: 67,253,924 (GRCm39) |
F415L |
possibly damaging |
Het |
Rabgap1 |
C |
T |
2: 37,453,499 (GRCm39) |
R976* |
probably null |
Het |
Rbfox3 |
T |
C |
11: 118,387,842 (GRCm39) |
H195R |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
Sdhaf4 |
T |
A |
1: 24,044,634 (GRCm39) |
R16S |
probably benign |
Het |
Slc17a1 |
G |
T |
13: 24,059,658 (GRCm39) |
G130* |
probably null |
Het |
Slc6a1 |
G |
T |
6: 114,278,977 (GRCm39) |
A23S |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,926,704 (GRCm39) |
I541V |
probably damaging |
Het |
Spock1 |
T |
A |
13: 57,583,952 (GRCm39) |
Q321L |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,271 (GRCm39) |
V53A |
possibly damaging |
Het |
Thrb |
T |
C |
14: 18,033,487 (GRCm38) |
F403L |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Uqcrfs1 |
T |
C |
13: 30,724,787 (GRCm39) |
K251R |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,792,085 (GRCm39) |
E57G |
possibly damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,737 (GRCm39) |
Y581F |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,874,909 (GRCm39) |
V1866A |
probably benign |
Het |
Washc5 |
A |
T |
15: 59,241,083 (GRCm39) |
F84Y |
probably damaging |
Het |
Yars1 |
T |
A |
4: 129,090,992 (GRCm39) |
Y28* |
probably null |
Het |
Zfp638 |
A |
G |
6: 83,905,964 (GRCm39) |
Y43C |
probably damaging |
Het |
Zfp750 |
T |
A |
11: 121,404,758 (GRCm39) |
H39L |
probably damaging |
Het |
Zfr2 |
C |
A |
10: 81,078,735 (GRCm39) |
S322R |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,771,450 (GRCm39) |
D1644G |
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 |
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'- AGCCAGGAACAGGTGTTTGG -3'
(R):5'- CAGTGATGTAGTCTGCACACAC -3'
Sequencing Primer
(F):5'- CAGGTGTTTGGAGAACTAGACTG -3'
(R):5'- GTGATGTAGTCTGCACACACATTCAG -3'
|
Posted On |
2014-10-01 |