Incidental Mutation 'R6395:Egflam'
| ID |
514749 |
| 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 # |
R6395 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7261176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 786
(H786R)
|
| 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: H786R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: H786R
| 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: H786R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: H786R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.3%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
C |
A |
2: 113,879,731 (GRCm39) |
E243* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,855,491 (GRCm39) |
I600T |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,058,507 (GRCm39) |
T2330A |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,582,576 (GRCm39) |
M280K |
probably benign |
Het |
| Ccdc117 |
T |
C |
11: 5,484,762 (GRCm39) |
|
probably null |
Het |
| Cct8 |
G |
T |
16: 87,283,364 (GRCm39) |
Y292* |
probably null |
Het |
| Celf1 |
A |
G |
2: 90,834,203 (GRCm39) |
I165V |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,183,429 (GRCm39) |
N453K |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,910,770 (GRCm39) |
I131M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,616,006 (GRCm39) |
I420T |
probably damaging |
Het |
| Cspg4b |
T |
G |
13: 113,506,003 (GRCm39) |
C2377W |
probably damaging |
Het |
| Dact3 |
A |
C |
7: 16,617,086 (GRCm39) |
Q95P |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,056,540 (GRCm39) |
|
probably null |
Het |
| Dock2 |
G |
T |
11: 34,182,874 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,221,771 (GRCm39) |
M2525T |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,759,321 (GRCm39) |
T811A |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,343,106 (GRCm39) |
T148A |
probably damaging |
Het |
| Fsip1 |
A |
C |
2: 118,067,406 (GRCm39) |
S306A |
probably damaging |
Het |
| Gga2 |
A |
T |
7: 121,607,661 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTT |
2: 98,494,152 (GRCm39) |
|
probably benign |
Het |
| Gm9837 |
T |
A |
11: 53,360,885 (GRCm39) |
|
probably benign |
Het |
| Gnl2 |
A |
T |
4: 124,940,058 (GRCm39) |
Q310L |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,701 (GRCm39) |
D53G |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,259,269 (GRCm39) |
D1036E |
probably damaging |
Het |
| Htr3a |
A |
T |
9: 48,811,871 (GRCm39) |
D381E |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,042,400 (GRCm39) |
G106R |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,864,078 (GRCm39) |
T114A |
probably damaging |
Het |
| Ints14 |
A |
G |
9: 64,885,406 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
T |
A |
2: 25,799,251 (GRCm39) |
M906K |
possibly damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lars2 |
A |
G |
9: 123,200,990 (GRCm39) |
Q18R |
probably benign |
Het |
| Mndal |
C |
T |
1: 173,698,999 (GRCm39) |
C222Y |
possibly damaging |
Het |
| Msto1 |
C |
T |
3: 88,812,781 (GRCm39) |
A1854V |
possibly damaging |
Het |
| Musk |
G |
A |
4: 58,286,169 (GRCm39) |
G20R |
probably benign |
Het |
| Or6c215 |
G |
T |
10: 129,638,013 (GRCm39) |
P127Q |
probably damaging |
Het |
| Oxct1 |
G |
T |
15: 4,056,309 (GRCm39) |
S19I |
possibly damaging |
Het |
| Papss2 |
G |
A |
19: 32,641,876 (GRCm39) |
G517D |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,676,918 (GRCm39) |
S1017G |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,242 (GRCm39) |
Q227R |
probably benign |
Het |
| Pdlim5 |
G |
T |
3: 142,020,183 (GRCm39) |
P92Q |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,595 (GRCm39) |
T480I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,583,531 (GRCm39) |
R213G |
possibly damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,189 (GRCm39) |
R146H |
probably benign |
Het |
| Prrc1 |
C |
T |
18: 57,495,619 (GRCm39) |
S32L |
probably null |
Het |
| Prss47 |
C |
T |
13: 65,197,116 (GRCm39) |
V207I |
probably benign |
Het |
| Prtg |
G |
A |
9: 72,819,414 (GRCm39) |
V1136I |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,418,265 (GRCm39) |
M69K |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,436,636 (GRCm39) |
D876E |
probably damaging |
Het |
| Rnasel |
T |
C |
1: 153,637,867 (GRCm39) |
M680T |
probably damaging |
Het |
| Rnf111 |
G |
T |
9: 70,383,692 (GRCm39) |
N80K |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,946,074 (GRCm39) |
C557Y |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,082,710 (GRCm39) |
Y161F |
probably damaging |
Het |
| Serpinb11 |
A |
T |
1: 107,299,781 (GRCm39) |
|
probably null |
Het |
| Sgpl1 |
C |
A |
10: 60,947,936 (GRCm39) |
|
probably null |
Het |
| Slc37a4 |
A |
G |
9: 44,310,576 (GRCm39) |
Y60C |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,015,208 (GRCm39) |
S381P |
probably benign |
Het |
| Slc5a7 |
C |
T |
17: 54,585,849 (GRCm39) |
V323I |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,668,818 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
A |
T |
1: 72,655,716 (GRCm39) |
E665V |
possibly damaging |
Het |
| Specc1 |
C |
A |
11: 62,023,164 (GRCm39) |
N736K |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,495 (GRCm39) |
Y159C |
probably benign |
Het |
| Tex54 |
A |
G |
19: 8,718,462 (GRCm39) |
D68G |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,196,268 (GRCm39) |
I1431V |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,047,414 (GRCm39) |
V671A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,748,931 (GRCm39) |
|
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,188,389 (GRCm39) |
T557A |
possibly damaging |
Het |
| Uri1 |
C |
A |
7: 37,661,974 (GRCm39) |
V446L |
probably benign |
Het |
| Vpreb1b |
C |
T |
16: 17,798,771 (GRCm39) |
R86C |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,331,184 (GRCm39) |
K1231E |
probably benign |
Het |
| Xcr1 |
G |
A |
9: 123,684,854 (GRCm39) |
R303C |
probably damaging |
Het |
| Zfp619 |
C |
A |
7: 39,186,454 (GRCm39) |
A828E |
possibly damaging |
Het |
| Zfp687 |
T |
C |
3: 94,915,049 (GRCm39) |
S1151G |
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 |
|
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 |
|
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'- AGTCCCCATAATTCAGTCTGTGG -3'
(R):5'- GTCGCTTCCAGATACCACAC -3'
Sequencing Primer
(F):5'- ATAATTCAGTCTGTGGCTTCCATG -3'
(R):5'- ACCTCTTCTAAAGGATCAGTCTTCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation