Incidental Mutation 'R6600:Gramd1c'
| ID |
525218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd1c
|
| Ensembl Gene |
ENSMUSG00000036292 |
| Gene Name |
GRAM domain containing 1C |
| Synonyms |
4921521N14Rik |
| MMRRC Submission |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43800713-43883708 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 43860482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 72
(R72*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214098]
|
| AlphaFold |
Q8CI52 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000214098
AA Change: R72*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216149
|
| Meta Mutation Damage Score |
0.9713 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACGC |
ACGCGC |
5: 138,645,710 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| Bcl6b |
A |
T |
11: 70,119,954 (GRCm39) |
L11Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,591 (GRCm39) |
C110R |
probably damaging |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,569 (GRCm39) |
S658F |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 141,965,039 (GRCm39) |
R126G |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly 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 |
|
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 |
|
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'- CCGGAAGAAACCATGAGCTC -3'
(R):5'- ACAGGGATGGCTTCTGAAGTG -3'
Sequencing Primer
(F):5'- AGGTCAGAAATCACTGTTCCCTGG -3'
(R):5'- GTTCATGGGTCTTTCATATAAGGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation