Incidental Mutation 'R8729:Gramd1a'
ID |
662646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gramd1a
|
Ensembl Gene |
ENSMUSG00000001248 |
Gene Name |
GRAM domain containing 1A |
Synonyms |
1300003M23Rik, D7Bwg0611e |
MMRRC Submission |
068577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R8729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30829552-30855321 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 30843248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 20
(R20L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001280
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001280]
[ENSMUST00000085636]
[ENSMUST00000185514]
[ENSMUST00000186634]
[ENSMUST00000186723]
[ENSMUST00000187679]
|
AlphaFold |
Q8VEF1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001280
AA Change: R20L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000001280 Gene: ENSMUSG00000001248 AA Change: R20L
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 |
possibly damaging
Transcript: ENSMUST00000085636
AA Change: R20L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000082778 Gene: ENSMUSG00000001248 AA Change: R20L
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 |
unknown
Transcript: ENSMUST00000185514
AA Change: R20L
|
SMART Domains |
Protein: ENSMUSP00000139681 Gene: ENSMUSG00000001248 AA Change: R20L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186634
AA Change: R20L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140195 Gene: ENSMUSG00000001248 AA Change: R20L
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 |
|
SMART Domains |
Protein: ENSMUSP00000139709 Gene: ENSMUSG00000001248 AA Change: R101L
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
120 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
Pfam:GRAM
|
174 |
208 |
1e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187679
|
SMART Domains |
Protein: ENSMUSP00000140674 Gene: ENSMUSG00000001248
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
GRAM
|
52 |
119 |
8.9e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206233
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206432
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,468,176 (GRCm39) |
Y148* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,838,428 (GRCm39) |
D1812G |
possibly damaging |
Het |
Ankrd17 |
C |
T |
5: 90,443,452 (GRCm39) |
C405Y |
probably benign |
Het |
Ankrd61 |
A |
G |
5: 143,827,803 (GRCm39) |
Y391H |
probably benign |
Het |
Calcb |
A |
C |
7: 114,319,428 (GRCm39) |
E70A |
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,763,831 (GRCm39) |
K233R |
probably benign |
Het |
Ccz1 |
T |
C |
5: 143,948,310 (GRCm39) |
D115G |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,310,893 (GRCm39) |
L1203* |
probably null |
Het |
Csmd2 |
G |
A |
4: 128,356,638 (GRCm39) |
D1648N |
|
Het |
Csn1s1 |
T |
C |
5: 87,824,998 (GRCm39) |
|
probably null |
Het |
Depp1 |
C |
A |
6: 116,628,762 (GRCm39) |
P35H |
probably damaging |
Het |
Eif2ak3 |
C |
A |
6: 70,821,864 (GRCm39) |
P52Q |
probably benign |
Het |
Galnt18 |
T |
C |
7: 111,119,198 (GRCm39) |
E441G |
probably null |
Het |
Gpat2 |
C |
A |
2: 127,275,739 (GRCm39) |
Q506K |
probably damaging |
Het |
Helz |
G |
T |
11: 107,528,754 (GRCm39) |
|
probably null |
Het |
Hif1a |
A |
G |
12: 73,990,902 (GRCm39) |
N725D |
probably damaging |
Het |
Ighv3-3 |
A |
T |
12: 114,160,252 (GRCm39) |
W53R |
possibly damaging |
Het |
Kat2a |
T |
C |
11: 100,601,337 (GRCm39) |
K331R |
probably benign |
Het |
Klk1b4 |
T |
A |
7: 43,856,884 (GRCm39) |
F3I |
probably damaging |
Het |
Krt78 |
T |
G |
15: 101,855,455 (GRCm39) |
Q785H |
probably damaging |
Het |
Lsm11 |
C |
T |
11: 45,835,727 (GRCm39) |
E5K |
possibly damaging |
Het |
Luzp2 |
A |
G |
7: 54,816,985 (GRCm39) |
K145R |
probably damaging |
Het |
Man2b2 |
T |
C |
5: 36,973,462 (GRCm39) |
T506A |
probably benign |
Het |
Msrb3 |
A |
C |
10: 120,687,974 (GRCm39) |
C34G |
probably null |
Het |
Muc16 |
T |
C |
9: 18,571,346 (GRCm39) |
D391G |
unknown |
Het |
Mybpc2 |
C |
T |
7: 44,155,611 (GRCm39) |
V881M |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,881,851 (GRCm39) |
K31R |
probably damaging |
Het |
Ndnf |
A |
T |
6: 65,680,758 (GRCm39) |
K346* |
probably null |
Het |
Nfs1 |
G |
A |
2: 155,965,727 (GRCm39) |
T118I |
probably benign |
Het |
Niban2 |
T |
A |
2: 32,799,946 (GRCm39) |
L91Q |
probably damaging |
Het |
Nlrp9c |
T |
G |
7: 26,071,428 (GRCm39) |
K893N |
probably benign |
Het |
Nmd3 |
A |
T |
3: 69,655,682 (GRCm39) |
K454N |
possibly damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,523 (GRCm39) |
C179R |
probably damaging |
Het |
Pcdhb9 |
C |
A |
18: 37,535,639 (GRCm39) |
D544E |
possibly damaging |
Het |
Pck1 |
A |
G |
2: 172,997,866 (GRCm39) |
I312V |
probably damaging |
Het |
Pkd2l2 |
G |
A |
18: 34,566,354 (GRCm39) |
V522I |
probably benign |
Het |
Polr3c |
C |
T |
3: 96,634,796 (GRCm39) |
|
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,583,052 (GRCm39) |
H271Q |
probably damaging |
Het |
Rpp21 |
A |
G |
17: 36,566,927 (GRCm39) |
S59P |
probably benign |
Het |
Rxfp4 |
T |
A |
3: 88,559,305 (GRCm39) |
N382I |
unknown |
Het |
Sirt1 |
A |
G |
10: 63,156,705 (GRCm39) |
F642L |
probably damaging |
Het |
Sp2 |
T |
C |
11: 96,852,099 (GRCm39) |
D275G |
possibly damaging |
Het |
Speer4a3 |
A |
G |
5: 26,158,178 (GRCm39) |
V58A |
probably damaging |
Het |
Srp72 |
C |
T |
5: 77,142,005 (GRCm39) |
T414I |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,179,275 (GRCm39) |
M4400L |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,220,376 (GRCm39) |
H156L |
possibly damaging |
Het |
Tbxas1 |
G |
T |
6: 38,978,272 (GRCm39) |
M140I |
probably benign |
Het |
Tcof1 |
G |
T |
18: 60,962,145 (GRCm39) |
P695T |
unknown |
Het |
Tmprss9 |
A |
T |
10: 80,726,177 (GRCm39) |
M476L |
probably benign |
Het |
Trat1 |
A |
T |
16: 48,562,591 (GRCm39) |
I73N |
probably damaging |
Het |
Trp53bp2 |
A |
T |
1: 182,276,587 (GRCm39) |
E856V |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,383,509 (GRCm39) |
|
probably null |
Het |
Ttn |
AC |
A |
2: 76,749,528 (GRCm39) |
|
probably null |
Het |
Twf1 |
T |
C |
15: 94,479,212 (GRCm39) |
N216D |
probably benign |
Het |
Unc80 |
C |
A |
1: 66,647,649 (GRCm39) |
H1530N |
probably benign |
Het |
Vmn1r235 |
A |
T |
17: 21,481,875 (GRCm39) |
M67L |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,767,239 (GRCm39) |
Y753N |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,157,071 (GRCm39) |
N524K |
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 |
R5723:Gramd1a
|
UTSW |
7 |
30,833,908 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CCACCTTACTGTTGCGGATG -3'
(R):5'- AGGGATATTCAGGCCTGCTC -3'
Sequencing Primer
(F):5'- CACCTTACTGTTGCGGATGAAGTTC -3'
(R):5'- TCCATAAATGAGTGGACAGCTGC -3'
|
Posted On |
2021-03-08 |