Incidental Mutation 'R3900:Elfn1'
ID |
308927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elfn1
|
Ensembl Gene |
ENSMUSG00000048988 |
Gene Name |
leucine rich repeat and fibronectin type III, extracellular 1 |
Synonyms |
A930017N06Rik |
MMRRC Submission |
041607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R3900 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
139893698-139960477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 139957719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 241
(R241H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050519]
|
AlphaFold |
Q8C8T7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050519
AA Change: R241H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053869 Gene: ENSMUSG00000048988 AA Change: R241H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRR
|
83 |
106 |
3.24e0 |
SMART |
LRR
|
109 |
130 |
9.22e0 |
SMART |
LRR
|
131 |
154 |
4.2e0 |
SMART |
LRR
|
155 |
178 |
6.78e1 |
SMART |
LRRCT
|
190 |
240 |
4.49e-4 |
SMART |
low complexity region
|
268 |
288 |
N/A |
INTRINSIC |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
Blast:FN3
|
314 |
389 |
1e-27 |
BLAST |
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
transmembrane domain
|
418 |
440 |
N/A |
INTRINSIC |
low complexity region
|
441 |
463 |
N/A |
INTRINSIC |
low complexity region
|
632 |
652 |
N/A |
INTRINSIC |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198608
|
Meta Mutation Damage Score |
0.1157 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (45/46) |
MGI Phenotype |
PHENOTYPE: Homozygous mutants display impaired coordination, hyperactivity, lower anxiety-related response, and increased susceptibility to induced seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
AI182371 |
T |
C |
2: 34,975,228 (GRCm39) |
I334V |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
Bcl6 |
T |
G |
16: 23,796,304 (GRCm39) |
E41A |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
Slc22a18 |
C |
A |
7: 143,033,507 (GRCm39) |
A86E |
probably damaging |
Het |
Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
probably damaging |
Het |
|
Other mutations in Elfn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1969:Elfn1
|
UTSW |
5 |
139,958,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Elfn1
|
UTSW |
5 |
139,959,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Elfn1
|
UTSW |
5 |
139,958,114 (GRCm39) |
missense |
probably benign |
|
R3898:Elfn1
|
UTSW |
5 |
139,957,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R4284:Elfn1
|
UTSW |
5 |
139,958,069 (GRCm39) |
nonsense |
probably null |
|
R4416:Elfn1
|
UTSW |
5 |
139,957,949 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4575:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
R4576:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
R4578:Elfn1
|
UTSW |
5 |
139,957,808 (GRCm39) |
missense |
probably benign |
|
R4617:Elfn1
|
UTSW |
5 |
139,957,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R4729:Elfn1
|
UTSW |
5 |
139,959,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R4857:Elfn1
|
UTSW |
5 |
139,958,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Elfn1
|
UTSW |
5 |
139,957,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R5456:Elfn1
|
UTSW |
5 |
139,958,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R6463:Elfn1
|
UTSW |
5 |
139,958,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R6841:Elfn1
|
UTSW |
5 |
139,958,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R6925:Elfn1
|
UTSW |
5 |
139,957,440 (GRCm39) |
missense |
probably benign |
0.02 |
R7224:Elfn1
|
UTSW |
5 |
139,958,228 (GRCm39) |
missense |
probably benign |
0.00 |
R7465:Elfn1
|
UTSW |
5 |
139,957,842 (GRCm39) |
missense |
probably benign |
0.34 |
R8171:Elfn1
|
UTSW |
5 |
139,957,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Elfn1
|
UTSW |
5 |
139,957,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R8454:Elfn1
|
UTSW |
5 |
139,957,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R9381:Elfn1
|
UTSW |
5 |
139,959,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9655:Elfn1
|
UTSW |
5 |
139,958,964 (GRCm39) |
missense |
possibly damaging |
0.58 |
V7732:Elfn1
|
UTSW |
5 |
139,957,194 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Elfn1
|
UTSW |
5 |
139,958,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCATGAATCGCATCCAGC -3'
(R):5'- GGAGAAGCACTCGTCATCAG -3'
Sequencing Primer
(F):5'- TGAATCGCATCCAGCAGCTG -3'
(R):5'- ACTCGTCATCAGCGCAG -3'
|
Posted On |
2015-04-17 |