Incidental Mutation 'R2330:Gramd1c'
| ID |
245854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd1c
|
| Ensembl Gene |
ENSMUSG00000036292 |
| Gene Name |
GRAM domain containing 1C |
| Synonyms |
4921521N14Rik |
| MMRRC Submission |
040321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2330 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43800713-43883708 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43803566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 616
(N616D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150056
(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
AA Change: N411D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: N411D
| 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
AA Change: N411D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: N411D
| 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
AA Change: N411D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: N411D
| 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: N616D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232055
|
| Meta Mutation Damage Score |
0.0622 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
A |
G |
2: 168,481,849 (GRCm39) |
S958P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,705,372 (GRCm39) |
V594A |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,540,939 (GRCm39) |
I2396T |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,528,300 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dnaja3 |
T |
A |
16: 4,507,880 (GRCm39) |
D127E |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,424,224 (GRCm39) |
L332P |
probably damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,833 (GRCm39) |
C90S |
unknown |
Het |
| Hmcn1 |
A |
G |
1: 150,528,429 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,291,641 (GRCm39) |
Q3378K |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,019,337 (GRCm39) |
|
probably null |
Het |
| Mex3c |
G |
A |
18: 73,706,799 (GRCm39) |
V229I |
probably damaging |
Het |
| Micall2 |
C |
G |
5: 139,703,270 (GRCm39) |
G189R |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,809 (GRCm39) |
H433R |
probably benign |
Het |
| Or2t45 |
A |
T |
11: 58,669,825 (GRCm39) |
S291C |
probably damaging |
Het |
| Or4c12 |
T |
C |
2: 89,774,297 (GRCm39) |
N54S |
probably benign |
Het |
| Or6c5 |
C |
T |
10: 129,074,908 (GRCm39) |
Q297* |
probably null |
Het |
| Pml |
A |
T |
9: 58,141,854 (GRCm39) |
V326E |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,366,378 (GRCm39) |
M219K |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,470,312 (GRCm39) |
I65N |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,821,816 (GRCm39) |
L17P |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,963 (GRCm39) |
K296E |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,949 (GRCm39) |
Q19R |
probably benign |
Het |
| Tgm6 |
A |
C |
2: 129,985,162 (GRCm39) |
D344A |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,775,509 (GRCm39) |
I517T |
probably damaging |
Het |
| Zfp831 |
T |
A |
2: 174,489,882 (GRCm39) |
Y1216* |
probably null |
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 |
|
R1299:Gramd1c
|
UTSW |
16 |
43,803,865 (GRCm39) |
unclassified |
probably benign |
|
|
R1389:Gramd1c
|
UTSW |
16 |
43,811,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCACTGAGTGAGAGAATAGCG -3'
(R):5'- ACCTGCTATATCTTGTCATACACAC -3'
Sequencing Primer
(F):5'- CTGAGTGAGAGAATAGCGTGAACC -3'
(R):5'- GTCATACACACTTAGTTCCCCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation