Incidental Mutation 'R8300:Egflam'
| ID |
639223 |
| 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 |
067788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7283932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| 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: D269G
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: D269G
| 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: D269G
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: D269G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
G |
9: 21,437,561 (GRCm39) |
M1V |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,353,123 (GRCm39) |
N773I |
possibly damaging |
Het |
| Adh7 |
A |
G |
3: 137,929,825 (GRCm39) |
E167G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,804,555 (GRCm39) |
D622V |
|
Het |
| Asf1b |
T |
A |
8: 84,695,805 (GRCm39) |
F149I |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,515,996 (GRCm39) |
V179A |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,498,597 (GRCm39) |
A430V |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,717 (GRCm39) |
Q1944L |
|
Het |
| Camkk1 |
T |
C |
11: 72,918,266 (GRCm39) |
V158A |
probably benign |
Het |
| Ccdc152 |
T |
C |
15: 3,327,634 (GRCm39) |
T48A |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,841,301 (GRCm39) |
M116L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,804,692 (GRCm39) |
G12R |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,941,671 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,011,385 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,285 (GRCm39) |
V238E |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,286 (GRCm39) |
V238I |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,198,333 (GRCm39) |
M276L |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,672 (GRCm39) |
S222P |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,342,687 (GRCm39) |
R64Q |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,857,689 (GRCm39) |
K622M |
probably damaging |
Het |
| Gm10220 |
T |
C |
5: 26,322,818 (GRCm39) |
E198G |
probably damaging |
Het |
| Gm1527 |
A |
T |
3: 28,980,744 (GRCm39) |
N615Y |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,307,140 (GRCm39) |
H308R |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,766,790 (GRCm39) |
I261T |
probably damaging |
Het |
| Gsg1 |
T |
G |
6: 135,214,580 (GRCm39) |
T310P |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,926,775 (GRCm39) |
S1075G |
probably null |
Het |
| Hyal6 |
A |
G |
6: 24,734,087 (GRCm39) |
T7A |
probably benign |
Het |
| Ighv1-59 |
T |
G |
12: 115,298,987 (GRCm39) |
Q22H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,643 (GRCm39) |
M1853K |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,762 (GRCm39) |
I237T |
probably benign |
Het |
| Mccc1 |
A |
T |
3: 36,017,753 (GRCm39) |
M649K |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,692,352 (GRCm39) |
D399G |
|
Het |
| Obscn |
T |
C |
11: 58,933,896 (GRCm39) |
K5323E |
probably benign |
Het |
| Or6p1 |
T |
A |
1: 174,258,100 (GRCm39) |
Y35* |
probably null |
Het |
| Paics |
T |
C |
5: 77,109,253 (GRCm39) |
V196A |
probably damaging |
Het |
| Pced1a |
C |
A |
2: 130,266,157 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
A |
T |
2: 28,352,435 (GRCm39) |
Y109* |
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,928,711 (GRCm39) |
V848A |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,618,118 (GRCm39) |
N92K |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,571 (GRCm39) |
I152N |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,319,967 (GRCm39) |
M442T |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,301,942 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,399,773 (GRCm39) |
K220R |
probably benign |
Het |
| Qrich2 |
G |
T |
11: 116,347,175 (GRCm39) |
D1216E |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,838,833 (GRCm39) |
|
silent |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,874,835 (GRCm39) |
R252Q |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,211,397 (GRCm39) |
H117R |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,456 (GRCm39) |
D206G |
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,854,792 (GRCm39) |
V1302M |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,139,374 (GRCm39) |
E780G |
possibly damaging |
Het |
| Snrpg |
T |
A |
6: 86,353,558 (GRCm39) |
V46E |
probably damaging |
Het |
| Spef1l |
A |
T |
7: 139,557,091 (GRCm39) |
I98N |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,058 (GRCm39) |
Q953L |
noncoding transcript |
Het |
| Stard9 |
C |
T |
2: 120,535,250 (GRCm39) |
L3836F |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,137 (GRCm39) |
M619K |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf9 |
C |
T |
4: 151,017,556 (GRCm39) |
T137M |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,289,565 (GRCm39) |
E626* |
probably null |
Het |
| Trio |
G |
T |
15: 27,855,108 (GRCm39) |
H750Q |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,070,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,347 (GRCm39) |
I451V |
probably benign |
Het |
| Zfp930 |
A |
T |
8: 69,680,998 (GRCm39) |
N230I |
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 |
|
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 |
|
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'- ACAGCCTGCTAGGAAACTCC -3'
(R):5'- TGCATGTACGACAATGCCATATTTC -3'
Sequencing Primer
(F):5'- GAAACTCCTTAGCACTAATTTATGCC -3'
(R):5'- ACGACAATGCCATATTTCATAAAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation