Incidental Mutation 'R5723:Gramd1a'
ID |
452321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd1a
|
Ensembl Gene |
ENSMUSG00000001248 |
Gene Name |
GRAM domain containing 1A |
Synonyms |
1300003M23Rik, D7Bwg0611e |
MMRRC Submission |
043341-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R5723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30833908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 506
(W506R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000186634]
|
AlphaFold |
Q8VEF1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001280
AA Change: W506R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248 AA Change: W506R
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
Pfam:DUF4782
|
372 |
520 |
7.3e-37 |
PFAM |
low complexity region
|
531 |
542 |
N/A |
INTRINSIC |
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
transmembrane domain
|
606 |
628 |
N/A |
INTRINSIC |
low complexity region
|
707 |
719 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085636
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
2.54e-29 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
Pfam:DUF4782
|
372 |
500 |
1.1e-28 |
PFAM |
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
transmembrane domain
|
572 |
594 |
N/A |
INTRINSIC |
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186634
|
SMART Domains |
Protein: ENSMUSP00000140195 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
GRAM
|
93 |
160 |
8.9e-32 |
SMART |
low complexity region
|
342 |
360 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188032
|
Predicted Effect |
unknown
Transcript: ENSMUST00000202814
AA Change: W68R
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220635
|
Meta Mutation Damage Score |
0.9607 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
Abcg2 |
C |
T |
6: 58,655,336 (GRCm39) |
Q109* |
probably null |
Het |
Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
C9 |
T |
A |
15: 6,516,297 (GRCm39) |
Y367N |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
Krt16 |
A |
G |
11: 100,139,272 (GRCm39) |
Y149H |
probably damaging |
Het |
Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,434,769 (GRCm39) |
S666G |
probably null |
Het |
Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,763 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gramd1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01315:Gramd1a
|
APN |
7 |
30,841,993 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01627:Gramd1a
|
APN |
7 |
30,839,221 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01684:Gramd1a
|
APN |
7 |
30,838,330 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01793:Gramd1a
|
APN |
7 |
30,833,838 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01986:Gramd1a
|
APN |
7 |
30,833,434 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02029:Gramd1a
|
APN |
7 |
30,832,249 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02060:Gramd1a
|
APN |
7 |
30,829,996 (GRCm39) |
nonsense |
probably null |
|
IGL02569:Gramd1a
|
APN |
7 |
30,829,932 (GRCm39) |
unclassified |
probably benign |
|
IGL02606:Gramd1a
|
APN |
7 |
30,833,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02715:Gramd1a
|
APN |
7 |
30,835,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Gramd1a
|
APN |
7 |
30,839,271 (GRCm39) |
nonsense |
probably null |
|
PIT4377001:Gramd1a
|
UTSW |
7 |
30,843,095 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4618001:Gramd1a
|
UTSW |
7 |
30,832,021 (GRCm39) |
missense |
probably benign |
0.00 |
R0179:Gramd1a
|
UTSW |
7 |
30,841,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0330:Gramd1a
|
UTSW |
7 |
30,837,679 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0628:Gramd1a
|
UTSW |
7 |
30,842,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Gramd1a
|
UTSW |
7 |
30,837,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1421:Gramd1a
|
UTSW |
7 |
30,842,291 (GRCm39) |
missense |
probably damaging |
0.98 |
R1430:Gramd1a
|
UTSW |
7 |
30,832,211 (GRCm39) |
missense |
probably damaging |
0.97 |
R1682:Gramd1a
|
UTSW |
7 |
30,842,325 (GRCm39) |
splice site |
probably null |
|
R1703:Gramd1a
|
UTSW |
7 |
30,838,959 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1822:Gramd1a
|
UTSW |
7 |
30,841,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R2308:Gramd1a
|
UTSW |
7 |
30,839,215 (GRCm39) |
missense |
probably damaging |
0.97 |
R3861:Gramd1a
|
UTSW |
7 |
30,835,365 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4184:Gramd1a
|
UTSW |
7 |
30,831,940 (GRCm39) |
intron |
probably benign |
|
R4908:Gramd1a
|
UTSW |
7 |
30,838,292 (GRCm39) |
missense |
probably benign |
0.27 |
R4978:Gramd1a
|
UTSW |
7 |
30,832,213 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5927:Gramd1a
|
UTSW |
7 |
30,839,246 (GRCm39) |
missense |
probably benign |
0.33 |
R6466:Gramd1a
|
UTSW |
7 |
30,843,221 (GRCm39) |
missense |
probably benign |
|
R6838:Gramd1a
|
UTSW |
7 |
30,833,929 (GRCm39) |
missense |
probably benign |
0.30 |
R7034:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
R7036:Gramd1a
|
UTSW |
7 |
30,832,181 (GRCm39) |
critical splice donor site |
probably null |
|
R7867:Gramd1a
|
UTSW |
7 |
30,842,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Gramd1a
|
UTSW |
7 |
30,843,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8783:Gramd1a
|
UTSW |
7 |
30,832,220 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9147:Gramd1a
|
UTSW |
7 |
30,837,606 (GRCm39) |
unclassified |
probably benign |
|
R9485:Gramd1a
|
UTSW |
7 |
30,829,963 (GRCm39) |
missense |
unknown |
|
Z1186:Gramd1a
|
UTSW |
7 |
30,843,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCTTTTCTGCCTTGGCG -3'
(R):5'- GCCCCAAATCAATGGCAGTTATAG -3'
Sequencing Primer
(F):5'- CGAGTTCTCGATCTGAGGGAC -3'
(R):5'- GAGACCCCTAAAGTGTGATTTAAGTG -3'
|
Posted On |
2017-01-03 |