Incidental Mutation 'R4036:Metrn'
ID |
313731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Metrn
|
Ensembl Gene |
ENSMUSG00000002274 |
Gene Name |
meteorin, glial cell differentiation regulator |
Synonyms |
1810034B16Rik |
MMRRC Submission |
040963-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R4036 (G1)
|
Quality Score |
155 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26013545-26016019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26013984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 281
(T281A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002344]
[ENSMUST00000072735]
[ENSMUST00000095500]
[ENSMUST00000165838]
|
AlphaFold |
Q8C1Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002344
AA Change: T281A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002344 Gene: ENSMUSG00000002274 AA Change: T281A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072735
|
SMART Domains |
Protein: ENSMUSP00000072518 Gene: ENSMUSG00000057411
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
SCOP:d1f3la_
|
65 |
141 |
2e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095500
|
SMART Domains |
Protein: ENSMUSP00000093155 Gene: ENSMUSG00000071202
Domain | Start | End | E-Value | Type |
Pfam:DUF4472
|
63 |
190 |
5.5e-23 |
PFAM |
coiled coil region
|
364 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165838
AA Change: T281A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127275 Gene: ENSMUSG00000002274 AA Change: T281A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
Het |
|
Other mutations in Metrn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0008:Metrn
|
UTSW |
17 |
26,015,479 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0280:Metrn
|
UTSW |
17 |
26,014,109 (GRCm39) |
missense |
probably benign |
0.08 |
R0729:Metrn
|
UTSW |
17 |
26,015,202 (GRCm39) |
splice site |
probably benign |
|
R1523:Metrn
|
UTSW |
17 |
26,013,951 (GRCm39) |
makesense |
probably null |
|
R2119:Metrn
|
UTSW |
17 |
26,014,197 (GRCm39) |
missense |
probably benign |
0.03 |
R2146:Metrn
|
UTSW |
17 |
26,015,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R4037:Metrn
|
UTSW |
17 |
26,013,984 (GRCm39) |
missense |
probably benign |
|
R4038:Metrn
|
UTSW |
17 |
26,013,984 (GRCm39) |
missense |
probably benign |
|
R4230:Metrn
|
UTSW |
17 |
26,015,915 (GRCm39) |
unclassified |
probably benign |
|
R5074:Metrn
|
UTSW |
17 |
26,015,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Metrn
|
UTSW |
17 |
26,015,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Metrn
|
UTSW |
17 |
26,014,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5744:Metrn
|
UTSW |
17 |
26,014,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Metrn
|
UTSW |
17 |
26,014,384 (GRCm39) |
missense |
probably benign |
0.17 |
R8108:Metrn
|
UTSW |
17 |
26,014,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGACCATGACTACAGTGGC -3'
(R):5'- ACACTGCCACTGTTCAAGG -3'
Sequencing Primer
(F):5'- ACCATGACTACAGTGGCTGGTATG -3'
(R):5'- CCACTGTTCAAGGAAGGGAGCTC -3'
|
Posted On |
2015-04-30 |