Incidental Mutation 'IGL03325:Gramd1c'
ID |
416609 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gramd1c
|
Ensembl Gene |
ENSMUSG00000036292 |
Gene Name |
GRAM domain containing 1C |
Synonyms |
4921521N14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03325
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
43800713-43883708 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43825868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 303
(Y303N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036174]
[ENSMUST00000114677]
[ENSMUST00000179565]
[ENSMUST00000214098]
|
AlphaFold |
Q8CI52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036174
AA Change: Y98N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000036739 Gene: ENSMUSG00000036292 AA Change: Y98N
Domain | Start | End | E-Value | Type |
Pfam:DUF4782
|
124 |
272 |
6.8e-38 |
PFAM |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114677
AA Change: Y98N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000110325 Gene: ENSMUSG00000036292 AA Change: Y98N
Domain | Start | End | E-Value | Type |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179565
AA Change: Y98N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000137426 Gene: ENSMUSG00000036292 AA Change: Y98N
Domain | Start | End | E-Value | Type |
low complexity region
|
304 |
314 |
N/A |
INTRINSIC |
transmembrane domain
|
350 |
372 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214098
AA Change: Y303N
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,844,422 (GRCm39) |
R870C |
possibly damaging |
Het |
Abcf2 |
A |
T |
5: 24,779,210 (GRCm39) |
L113I |
probably damaging |
Het |
Abi1 |
C |
T |
2: 22,861,240 (GRCm39) |
R106Q |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,036,324 (GRCm39) |
V1645A |
probably benign |
Het |
Ccdc198 |
A |
T |
14: 49,481,277 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
G |
A |
7: 25,175,912 (GRCm39) |
A94V |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,173,168 (GRCm39) |
T2515I |
probably damaging |
Het |
Gm5800 |
T |
C |
14: 51,951,983 (GRCm39) |
Y93C |
probably benign |
Het |
Gnl1 |
A |
G |
17: 36,299,548 (GRCm39) |
D573G |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,645,229 (GRCm39) |
M105T |
probably benign |
Het |
Heatr9 |
A |
G |
11: 83,404,085 (GRCm39) |
|
probably null |
Het |
Iigp1c |
T |
A |
18: 60,378,883 (GRCm39) |
Y139* |
probably null |
Het |
Itih2 |
T |
C |
2: 10,111,546 (GRCm39) |
D464G |
probably damaging |
Het |
Jcad |
T |
C |
18: 4,673,902 (GRCm39) |
Y555H |
probably benign |
Het |
Krtap19-3 |
A |
T |
16: 88,674,609 (GRCm39) |
*88R |
probably null |
Het |
Mrps11 |
T |
C |
7: 78,440,453 (GRCm39) |
F114S |
probably damaging |
Het |
Nat8 |
A |
T |
6: 85,807,875 (GRCm39) |
V86E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,569,158 (GRCm39) |
T555A |
probably benign |
Het |
Or6c3 |
A |
T |
10: 129,309,474 (GRCm39) |
K304N |
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,049,948 (GRCm39) |
T10I |
possibly damaging |
Het |
Prss16 |
A |
G |
13: 22,187,417 (GRCm39) |
V409A |
possibly damaging |
Het |
Sema3d |
T |
A |
5: 12,513,189 (GRCm39) |
L53Q |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,582,628 (GRCm39) |
Y696H |
probably damaging |
Het |
Sh2d3c |
C |
T |
2: 32,615,270 (GRCm39) |
A120V |
probably benign |
Het |
Smn1 |
A |
G |
13: 100,264,365 (GRCm39) |
Y32C |
probably damaging |
Het |
Sun2 |
C |
T |
15: 79,622,849 (GRCm39) |
R110Q |
probably benign |
Het |
Tcp11l2 |
T |
G |
10: 84,440,764 (GRCm39) |
D323E |
possibly damaging |
Het |
Tex55 |
A |
T |
16: 38,648,355 (GRCm39) |
S251R |
probably damaging |
Het |
Tnni3k |
A |
T |
3: 154,667,451 (GRCm39) |
S296R |
probably damaging |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,135,869 (GRCm39) |
S2435T |
probably damaging |
Het |
Vmn2r114 |
C |
A |
17: 23,510,652 (GRCm39) |
K609N |
probably damaging |
Het |
|
Other mutations in Gramd1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01622:Gramd1c
|
APN |
16 |
43,811,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01623:Gramd1c
|
APN |
16 |
43,811,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03090:Gramd1c
|
APN |
16 |
43,802,463 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03047:Gramd1c
|
UTSW |
16 |
43,808,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R0173:Gramd1c
|
UTSW |
16 |
43,818,196 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1221:Gramd1c
|
UTSW |
16 |
43,810,227 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1299:Gramd1c
|
UTSW |
16 |
43,803,865 (GRCm39) |
unclassified |
probably benign |
|
R1389:Gramd1c
|
UTSW |
16 |
43,811,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R2330:Gramd1c
|
UTSW |
16 |
43,803,566 (GRCm39) |
missense |
probably benign |
0.00 |
R3760:Gramd1c
|
UTSW |
16 |
43,818,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Gramd1c
|
UTSW |
16 |
43,810,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5032:Gramd1c
|
UTSW |
16 |
43,811,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Gramd1c
|
UTSW |
16 |
43,803,604 (GRCm39) |
missense |
probably benign |
|
R5538:Gramd1c
|
UTSW |
16 |
43,802,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R5859:Gramd1c
|
UTSW |
16 |
43,812,454 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6600:Gramd1c
|
UTSW |
16 |
43,860,482 (GRCm39) |
nonsense |
probably null |
|
R6899:Gramd1c
|
UTSW |
16 |
43,860,505 (GRCm39) |
missense |
probably benign |
0.01 |
R7202:Gramd1c
|
UTSW |
16 |
43,879,584 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7648:Gramd1c
|
UTSW |
16 |
43,810,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7880:Gramd1c
|
UTSW |
16 |
43,812,439 (GRCm39) |
missense |
probably benign |
0.16 |
R9398:Gramd1c
|
UTSW |
16 |
43,833,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Gramd1c
|
UTSW |
16 |
43,807,294 (GRCm39) |
missense |
probably damaging |
0.98 |
R9715:Gramd1c
|
UTSW |
16 |
43,825,840 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9755:Gramd1c
|
UTSW |
16 |
43,803,879 (GRCm39) |
missense |
probably benign |
0.00 |
X0057:Gramd1c
|
UTSW |
16 |
43,803,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |