Incidental Mutation 'R5977:Egflam'
| ID |
481217 |
| 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 |
044159-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5977 (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 A
at 7347726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 68
(Y68F)
|
| 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: Y68F
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055599
Gene: ENSMUSG00000042961
AA Change: Y68F
| 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: Y68F
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094238
Gene: ENSMUSG00000042961
AA Change: Y68F
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,451,106 (GRCm39) |
R446S |
probably damaging |
Het |
| 2900092C05Rik |
A |
T |
7: 12,288,664 (GRCm39) |
H159L |
probably benign |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,838 (GRCm39) |
V291I |
probably damaging |
Het |
| A2ml1 |
A |
G |
6: 128,558,085 (GRCm39) |
Y24H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,583,678 (GRCm39) |
|
probably null |
Het |
| Ankrd52 |
C |
T |
10: 128,218,566 (GRCm39) |
H351Y |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,035,748 (GRCm39) |
A588S |
probably benign |
Het |
| Arl15 |
T |
G |
13: 114,070,645 (GRCm39) |
V80G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,904,628 (GRCm39) |
I532T |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,910,031 (GRCm39) |
C1475R |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,253,719 (GRCm39) |
R394Q |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,697 (GRCm39) |
I254T |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,803,447 (GRCm39) |
T827A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,749,571 (GRCm39) |
V421A |
possibly damaging |
Het |
| Cped1 |
T |
C |
6: 22,254,607 (GRCm39) |
V1000A |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,797,076 (GRCm39) |
Y282* |
probably null |
Het |
| Cryl1 |
G |
T |
14: 57,620,236 (GRCm39) |
T43K |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 127,952,827 (GRCm39) |
P92L |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,474,444 (GRCm39) |
|
probably null |
Het |
| Dhrs7b |
C |
T |
11: 60,743,328 (GRCm39) |
R187* |
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,190,451 (GRCm39) |
T88A |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,411,707 (GRCm39) |
E305G |
possibly damaging |
Het |
| Dscaml1 |
A |
C |
9: 45,632,596 (GRCm39) |
N1154T |
probably benign |
Het |
| Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,603 (GRCm39) |
V382A |
probably damaging |
Het |
| Gm18358 |
A |
G |
7: 84,739,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3443 |
T |
G |
19: 21,534,960 (GRCm39) |
I75S |
probably benign |
Het |
| Gpr182 |
C |
A |
10: 127,586,748 (GRCm39) |
V68F |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,604 (GRCm39) |
M1651K |
possibly damaging |
Het |
| Hey1 |
A |
T |
3: 8,731,418 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
A |
C |
12: 114,909,829 (GRCm39) |
V31G |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,459,692 (GRCm39) |
V450A |
probably damaging |
Het |
| Kbtbd4 |
T |
G |
2: 90,736,487 (GRCm39) |
V166G |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,197 (GRCm39) |
N294S |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,099,720 (GRCm39) |
K61E |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,350,104 (GRCm39) |
S616P |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,973,866 (GRCm39) |
L1292P |
probably damaging |
Het |
| Nek8 |
C |
T |
11: 78,058,651 (GRCm39) |
V550M |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,159,721 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
G |
A |
11: 49,231,592 (GRCm39) |
V78M |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,572 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Papln |
G |
A |
12: 83,831,143 (GRCm39) |
W1099* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
| Prss39 |
T |
G |
1: 34,541,783 (GRCm39) |
C287G |
probably damaging |
Het |
| Pyroxd2 |
A |
G |
19: 42,723,911 (GRCm39) |
V338A |
probably damaging |
Het |
| Rab19 |
T |
A |
6: 39,360,860 (GRCm39) |
F3I |
probably benign |
Het |
| Relt |
A |
G |
7: 100,512,355 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,977,193 (GRCm39) |
H647L |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,513,689 (GRCm39) |
C327Y |
probably damaging |
Het |
| Sec14l4 |
A |
C |
11: 3,990,055 (GRCm39) |
Q118P |
possibly damaging |
Het |
| Shisa9 |
C |
G |
16: 12,085,292 (GRCm39) |
D300E |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,740,580 (GRCm39) |
|
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,002,393 (GRCm39) |
T305A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,784,889 (GRCm39) |
V1104A |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
| Unc119b |
A |
G |
5: 115,268,612 (GRCm39) |
V91A |
probably benign |
Het |
| Uvssa |
A |
G |
5: 33,547,204 (GRCm39) |
K257E |
probably damaging |
Het |
| Vmn1r199 |
A |
C |
13: 22,567,416 (GRCm39) |
M237L |
probably benign |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,417 (GRCm39) |
R26W |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,143 (GRCm39) |
F264L |
probably damaging |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,464 (GRCm39) |
W285* |
probably null |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,541 (GRCm39) |
S145T |
possibly damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,604,115 (GRCm39) |
N764K |
probably benign |
Het |
| Wdr5b |
T |
G |
16: 35,862,374 (GRCm39) |
H164Q |
probably damaging |
Het |
| Zcchc7 |
G |
A |
4: 44,894,982 (GRCm39) |
V236I |
possibly damaging |
Het |
| Zfp729b |
G |
A |
13: 67,739,740 (GRCm39) |
R842C |
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 |
|
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'- CCCAATGAGATAAGGGAGACTTAACC -3'
(R):5'- GTGAGTCTTCATCTGTGAGCAG -3'
Sequencing Primer
(F):5'- TAACCTATGCAGGAGATATACATGG -3'
(R):5'- TCATCTGTGAGCAGTCAGATC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation