Incidental Mutation 'R5931:Egflam'
ID |
461873 |
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 |
044126-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5931 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
7235601-7427876 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 7273338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 579
(T579I)
|
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: T579I
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000055599 Gene: ENSMUSG00000042961 AA Change: T579I
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: T579I
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000094238 Gene: ENSMUSG00000042961 AA Change: T579I
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,896,096 (GRCm39) |
R315W |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,775,356 (GRCm39) |
Y153F |
possibly damaging |
Het |
C4b |
A |
G |
17: 34,948,167 (GRCm39) |
V1644A |
probably damaging |
Het |
Carmil3 |
A |
C |
14: 55,736,397 (GRCm39) |
K654T |
probably damaging |
Het |
Cdh1 |
T |
C |
8: 107,392,964 (GRCm39) |
|
probably null |
Het |
Chrna1 |
C |
T |
2: 73,398,444 (GRCm39) |
V332M |
probably benign |
Het |
Clca3a2 |
A |
C |
3: 144,797,886 (GRCm39) |
V193G |
possibly damaging |
Het |
Cyld |
A |
G |
8: 89,456,470 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
T |
3: 116,317,074 (GRCm39) |
E83D |
possibly damaging |
Het |
Deup1 |
T |
C |
9: 15,472,618 (GRCm39) |
R471G |
possibly damaging |
Het |
Dgcr2 |
T |
A |
16: 17,675,173 (GRCm39) |
I188F |
possibly damaging |
Het |
Dgkg |
G |
A |
16: 22,376,788 (GRCm39) |
R524* |
probably null |
Het |
Dnaaf9 |
G |
A |
2: 130,656,109 (GRCm39) |
T2M |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,453,425 (GRCm39) |
R4399W |
probably damaging |
Het |
Eif2b2 |
C |
T |
12: 85,269,561 (GRCm39) |
T211I |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,883,386 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
C |
G |
19: 29,593,129 (GRCm39) |
A788P |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,317,699 (GRCm39) |
S142P |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,999,250 (GRCm39) |
C351S |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,806,307 (GRCm39) |
S444T |
probably benign |
Het |
Gabra6 |
G |
A |
11: 42,198,268 (GRCm39) |
T384M |
probably benign |
Het |
Gpbp1l1 |
T |
C |
4: 116,447,457 (GRCm39) |
V379A |
probably benign |
Het |
Hook2 |
G |
T |
8: 85,722,375 (GRCm39) |
E305* |
probably null |
Het |
Hoxa3 |
G |
A |
6: 52,149,568 (GRCm39) |
A21V |
probably damaging |
Het |
Hs1bp3 |
C |
A |
12: 8,391,915 (GRCm39) |
P339Q |
probably benign |
Het |
Igha |
T |
A |
12: 113,223,710 (GRCm39) |
T49S |
probably benign |
Het |
Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
Lats2 |
A |
G |
14: 57,933,588 (GRCm39) |
L843P |
probably damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,839 (GRCm39) |
T255A |
probably benign |
Het |
Lpar6 |
A |
G |
14: 73,476,368 (GRCm39) |
I110V |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,998,722 (GRCm39) |
I44V |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
Muc20 |
A |
T |
16: 32,614,944 (GRCm39) |
D144E |
possibly damaging |
Het |
Nphp3 |
T |
A |
9: 103,897,945 (GRCm39) |
D417E |
probably damaging |
Het |
Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
Or8b40 |
A |
G |
9: 38,027,670 (GRCm39) |
I193V |
probably benign |
Het |
Paqr7 |
A |
C |
4: 134,235,031 (GRCm39) |
Y296S |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,087,808 (GRCm39) |
T664S |
probably damaging |
Het |
Pelo |
T |
A |
13: 115,225,379 (GRCm39) |
Y282F |
probably benign |
Het |
Plxna2 |
A |
T |
1: 194,493,178 (GRCm39) |
I1818F |
probably damaging |
Het |
Pnkd |
A |
G |
1: 74,389,833 (GRCm39) |
D319G |
probably benign |
Het |
Pnma8a |
C |
A |
7: 16,694,809 (GRCm39) |
N221K |
probably benign |
Het |
Ppp1cb |
T |
A |
5: 32,640,810 (GRCm39) |
|
probably null |
Het |
Prkca |
T |
G |
11: 107,905,136 (GRCm39) |
I201L |
probably benign |
Het |
Prp2rt |
A |
G |
13: 97,235,705 (GRCm39) |
L14S |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,087,778 (GRCm39) |
R538C |
probably damaging |
Het |
Rph3a |
T |
C |
5: 121,101,936 (GRCm39) |
Q100R |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,972,608 (GRCm39) |
R29* |
probably null |
Het |
Scel |
T |
A |
14: 103,843,060 (GRCm39) |
Y547* |
probably null |
Het |
Sp100 |
C |
T |
1: 85,606,804 (GRCm39) |
P303L |
probably damaging |
Het |
Stk31 |
A |
G |
6: 49,446,236 (GRCm39) |
S958G |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,055,639 (GRCm39) |
V4168E |
probably benign |
Het |
Tenm3 |
A |
T |
8: 49,099,533 (GRCm39) |
S91T |
probably benign |
Het |
Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
Tmem248 |
T |
A |
5: 130,258,349 (GRCm39) |
I14N |
probably damaging |
Het |
Tor3a |
T |
C |
1: 156,484,057 (GRCm39) |
I298V |
probably benign |
Het |
Trim69 |
A |
T |
2: 122,009,075 (GRCm39) |
K378N |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,232,975 (GRCm39) |
P151S |
possibly damaging |
Het |
Uaca |
T |
C |
9: 60,779,294 (GRCm39) |
V1225A |
probably damaging |
Het |
Vps4b |
T |
C |
1: 106,705,065 (GRCm39) |
I343V |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,152,047 (GRCm39) |
T184A |
probably damaging |
Het |
Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
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 |
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'- CTAAGTGCTACAGGAAGGCCAG -3'
(R):5'- AACAAAGAAGCGGGTTCTCC -3'
Sequencing Primer
(F):5'- GCCTGTGATTAGTTTAAAACTCTGG -3'
(R):5'- CCGTTCTGGGAGCTGGTAC -3'
|
Posted On |
2017-02-28 |