Incidental Mutation 'R1099:Egflam'
| ID |
97981 |
| 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 |
039173-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1099 (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 7281903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 411
(V411A)
|
| 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: V411A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: V411A
| 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: V411A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: V411A
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abca7 |
G |
T |
10: 79,849,577 (GRCm39) |
E1921* |
probably null |
Het |
| Acnat2 |
G |
A |
4: 49,380,484 (GRCm39) |
T298I |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,860 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
A |
8: 18,749,149 (GRCm39) |
T323S |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,784,810 (GRCm39) |
K299R |
probably damaging |
Het |
| Armc2 |
G |
T |
10: 41,793,183 (GRCm39) |
Q814K |
probably benign |
Het |
| Atp9b |
A |
C |
18: 80,901,841 (GRCm39) |
I263S |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,599,478 (GRCm39) |
I276T |
probably damaging |
Het |
| Casp12 |
T |
A |
9: 5,352,204 (GRCm39) |
H135Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,225 (GRCm39) |
I621V |
probably benign |
Het |
| Cd160 |
G |
A |
3: 96,713,156 (GRCm39) |
A36V |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,954,153 (GRCm39) |
C315S |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,084,634 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
A |
2: 3,226,354 (GRCm39) |
S371T |
probably benign |
Het |
| Hspbap1 |
T |
G |
16: 35,645,314 (GRCm39) |
F333C |
probably damaging |
Het |
| Ky |
G |
C |
9: 102,414,923 (GRCm39) |
W278C |
probably damaging |
Het |
| Lrig3 |
T |
A |
10: 125,842,883 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
A |
T |
4: 132,974,439 (GRCm39) |
S580C |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,254,790 (GRCm39) |
T219A |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,148,156 (GRCm39) |
I789V |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,727 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
G |
5: 118,061,460 (GRCm39) |
T929A |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,558 (GRCm39) |
F237S |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,503 (GRCm39) |
S300T |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,716,874 (GRCm39) |
N541S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,373,173 (GRCm39) |
S2321P |
probably damaging |
Het |
| Prdm8 |
T |
G |
5: 98,331,361 (GRCm39) |
I71S |
probably damaging |
Het |
| Prkg1 |
A |
C |
19: 30,549,012 (GRCm39) |
S654R |
probably benign |
Het |
| Psmf1 |
A |
T |
2: 151,560,590 (GRCm39) |
H260Q |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,422,513 (GRCm39) |
I179N |
possibly damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,867 (GRCm39) |
K1681E |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,351,241 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
A |
16: 90,059,986 (GRCm39) |
I37F |
unknown |
Het |
| Sema4c |
A |
G |
1: 36,591,191 (GRCm39) |
S383P |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,564,764 (GRCm39) |
D178E |
probably benign |
Het |
| Slc2a5 |
A |
G |
4: 150,226,636 (GRCm39) |
N366S |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,715,760 (GRCm39) |
N465S |
probably benign |
Het |
| Tbc1d9b |
C |
A |
11: 50,037,135 (GRCm39) |
D261E |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,724,675 (GRCm39) |
T359S |
probably damaging |
Het |
| Thap3 |
T |
C |
4: 152,067,788 (GRCm39) |
M97V |
probably benign |
Het |
| Thg1l |
T |
A |
11: 45,844,988 (GRCm39) |
Q88L |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,657 (GRCm39) |
T849A |
probably benign |
Het |
| Tomm70a |
G |
T |
16: 56,963,180 (GRCm39) |
D400Y |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,961,000 (GRCm39) |
I177V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,074,661 (GRCm39) |
I533M |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,380,545 (GRCm39) |
Y2285N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,596,836 (GRCm39) |
P3859S |
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 |
|
|
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 |
|
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'- GCTGTGAACCTGAGCATTGTGAAC -3'
(R):5'- AGCCCCTGATCTCAAGGGTAGAAG -3'
Sequencing Primer
(F):5'- AGCATTGTGAACGCGCC -3'
(R):5'- AAGCTAAGTGCTACTGGCTAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation