Incidental Mutation 'R1299:Gramd1c'
ID |
158263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd1c
|
Ensembl Gene |
ENSMUSG00000036292 |
Gene Name |
GRAM domain containing 1C |
Synonyms |
4921521N14Rik |
MMRRC Submission |
039365-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1299 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
43800713-43883708 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 43803865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036174]
[ENSMUST00000036321]
[ENSMUST00000114677]
[ENSMUST00000165648]
[ENSMUST00000179565]
[ENSMUST00000214098]
[ENSMUST00000231700]
[ENSMUST00000232055]
|
AlphaFold |
Q8CI52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036174
|
SMART Domains |
Protein: ENSMUSP00000036739 Gene: ENSMUSG00000036292
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: ENSMUST00000036321
|
SMART Domains |
Protein: ENSMUSP00000044744 Gene: ENSMUSG00000036304
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
175 |
378 |
3.8e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114677
|
SMART Domains |
Protein: ENSMUSP00000110325 Gene: ENSMUSG00000036292
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: ENSMUST00000165648
|
SMART Domains |
Protein: ENSMUSP00000128650 Gene: ENSMUSG00000036304
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
transmembrane domain
|
82 |
99 |
N/A |
INTRINSIC |
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
transmembrane domain
|
132 |
151 |
N/A |
INTRINSIC |
transmembrane domain
|
161 |
180 |
N/A |
INTRINSIC |
Pfam:zf-DHHC
|
244 |
378 |
8.4e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179565
|
SMART Domains |
Protein: ENSMUSP00000137426 Gene: ENSMUSG00000036292
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232055
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,244,821 (GRCm39) |
L2228P |
possibly damaging |
Het |
Acnat1 |
T |
A |
4: 49,450,925 (GRCm39) |
E62V |
possibly damaging |
Het |
Adam7 |
A |
G |
14: 68,763,748 (GRCm39) |
|
probably benign |
Het |
Ate1 |
A |
T |
7: 130,106,485 (GRCm39) |
V292D |
probably damaging |
Het |
Cbx8 |
T |
C |
11: 118,931,676 (GRCm39) |
M1V |
probably null |
Het |
Cdc73 |
T |
C |
1: 143,575,019 (GRCm39) |
D58G |
probably benign |
Het |
Cgnl1 |
G |
A |
9: 71,628,994 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Fam133b |
T |
C |
5: 3,604,626 (GRCm39) |
|
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,803,638 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gpr142 |
A |
T |
11: 114,695,185 (GRCm39) |
Y50F |
probably benign |
Het |
Gypa |
G |
A |
8: 81,223,382 (GRCm39) |
V53I |
unknown |
Het |
H2-DMb2 |
T |
C |
17: 34,369,561 (GRCm39) |
V235A |
probably benign |
Het |
Igkv10-94 |
T |
C |
6: 68,681,482 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
C |
7: 125,451,195 (GRCm39) |
M1109L |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,315,419 (GRCm39) |
Y484C |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,795,456 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
G |
A |
2: 119,845,885 (GRCm39) |
C412Y |
probably damaging |
Het |
Mblac2 |
C |
A |
13: 81,859,845 (GRCm39) |
C65* |
probably null |
Het |
Or5b104 |
T |
A |
19: 13,072,494 (GRCm39) |
N173Y |
possibly damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,946 (GRCm39) |
I211T |
probably benign |
Het |
Parn |
G |
A |
16: 13,482,593 (GRCm39) |
T85M |
probably benign |
Het |
Pcdhb22 |
T |
C |
18: 37,653,643 (GRCm39) |
S704P |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,427,827 (GRCm39) |
F942L |
possibly damaging |
Het |
Prox1 |
G |
T |
1: 189,879,140 (GRCm39) |
|
probably benign |
Het |
Prss55 |
A |
T |
14: 64,319,147 (GRCm39) |
I70N |
probably damaging |
Het |
Slc25a13 |
C |
T |
6: 6,113,937 (GRCm39) |
|
probably null |
Het |
Smarca2 |
T |
C |
19: 26,749,011 (GRCm39) |
|
probably null |
Het |
Smarcc2 |
C |
A |
10: 128,297,247 (GRCm39) |
N46K |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,703,769 (GRCm39) |
Y22F |
probably benign |
Het |
Tgfbr1 |
T |
A |
4: 47,396,587 (GRCm39) |
|
probably null |
Het |
Xpr1 |
A |
C |
1: 155,292,949 (GRCm39) |
I11S |
probably damaging |
Het |
Zfp354b |
A |
C |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
Zfp882 |
A |
G |
8: 72,667,317 (GRCm39) |
E88G |
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 |
IGL03325:Gramd1c
|
APN |
16 |
43,825,868 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGAGAACCTGCCCATTCACA -3'
(R):5'- TTTGTAGTCCAGGCTGCCCCAT -3'
Sequencing Primer
(F):5'- CCAACATCACTATGGAATCTTGGAG -3'
(R):5'- TCCAATCACAACAGACTCTATGGTG -3'
|
Posted On |
2014-02-18 |