Incidental Mutation 'IGL00490:Gramd1b'
| ID |
11132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gramd1b
|
| Ensembl Gene |
ENSMUSG00000040111 |
| Gene Name |
GRAM domain containing 1B |
| Synonyms |
A930008A22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 40221337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 280
(I280F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045682]
[ENSMUST00000118159]
[ENSMUST00000119373]
[ENSMUST00000121357]
[ENSMUST00000165104]
[ENSMUST00000211853]
[ENSMUST00000216821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045682
AA Change: I395F
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: I395F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
226 |
N/A |
INTRINSIC |
|
GRAM
|
240 |
307 |
1.54e-28 |
SMART |
|
low complexity region
|
375 |
385 |
N/A |
INTRINSIC |
|
Pfam:DUF4782
|
519 |
667 |
1.6e-38 |
PFAM |
|
low complexity region
|
696 |
710 |
N/A |
INTRINSIC |
|
transmembrane domain
|
768 |
790 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118159
AA Change: I211F
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: I211F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
42 |
N/A |
INTRINSIC |
|
GRAM
|
56 |
123 |
1.54e-28 |
SMART |
|
low complexity region
|
191 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
526 |
N/A |
INTRINSIC |
|
transmembrane domain
|
584 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119373
AA Change: I278F
|
| SMART Domains |
Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: I278F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
|
GRAM
|
126 |
193 |
1.54e-28 |
SMART |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
596 |
N/A |
INTRINSIC |
|
transmembrane domain
|
654 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121357
AA Change: I247F
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: I247F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
78 |
N/A |
INTRINSIC |
|
GRAM
|
92 |
159 |
1.54e-28 |
SMART |
|
low complexity region
|
227 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137454
AA Change: I5F
|
| SMART Domains |
Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: I5F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4782
|
130 |
278 |
2.3e-39 |
PFAM |
|
low complexity region
|
307 |
321 |
N/A |
INTRINSIC |
|
transmembrane domain
|
379 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165104
AA Change: I395F
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: I395F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
226 |
N/A |
INTRINSIC |
|
GRAM
|
240 |
307 |
1.54e-28 |
SMART |
|
low complexity region
|
375 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
710 |
N/A |
INTRINSIC |
|
transmembrane domain
|
768 |
790 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211853
AA Change: I280F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216821
AA Change: I251F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,224,189 (GRCm39) |
Y326C |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Gramd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00575:Gramd1b
|
APN |
9 |
40,238,707 (GRCm39) |
splice site |
probably benign |
|
|
IGL01596:Gramd1b
|
APN |
9 |
40,214,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01810:Gramd1b
|
APN |
9 |
40,227,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Gramd1b
|
APN |
9 |
40,227,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02206:Gramd1b
|
APN |
9 |
40,211,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02626:Gramd1b
|
APN |
9 |
40,209,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02723:Gramd1b
|
APN |
9 |
40,218,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03192:Gramd1b
|
APN |
9 |
40,218,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2288:Gramd1b
|
UTSW |
9 |
40,218,101 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Gramd1b
|
UTSW |
9 |
40,366,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0038:Gramd1b
|
UTSW |
9 |
40,228,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Gramd1b
|
UTSW |
9 |
40,228,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Gramd1b
|
UTSW |
9 |
40,219,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Gramd1b
|
UTSW |
9 |
40,228,117 (GRCm39) |
splice site |
probably null |
|
|
R1637:Gramd1b
|
UTSW |
9 |
40,215,834 (GRCm39) |
splice site |
probably null |
|
|
R1782:Gramd1b
|
UTSW |
9 |
40,324,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Gramd1b
|
UTSW |
9 |
40,217,765 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3620:Gramd1b
|
UTSW |
9 |
40,366,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3943:Gramd1b
|
UTSW |
9 |
40,442,340 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4613:Gramd1b
|
UTSW |
9 |
40,219,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Gramd1b
|
UTSW |
9 |
40,227,128 (GRCm39) |
splice site |
probably null |
|
|
R4808:Gramd1b
|
UTSW |
9 |
40,215,645 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5407:Gramd1b
|
UTSW |
9 |
40,366,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6209:Gramd1b
|
UTSW |
9 |
40,244,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Gramd1b
|
UTSW |
9 |
40,219,702 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7103:Gramd1b
|
UTSW |
9 |
40,312,902 (GRCm39) |
missense |
unknown |
|
|
R7185:Gramd1b
|
UTSW |
9 |
40,244,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7352:Gramd1b
|
UTSW |
9 |
40,219,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Gramd1b
|
UTSW |
9 |
40,238,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Gramd1b
|
UTSW |
9 |
40,312,911 (GRCm39) |
missense |
unknown |
|
|
R8272:Gramd1b
|
UTSW |
9 |
40,215,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8474:Gramd1b
|
UTSW |
9 |
40,287,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8690:Gramd1b
|
UTSW |
9 |
40,215,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Gramd1b
|
UTSW |
9 |
40,215,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9493:Gramd1b
|
UTSW |
9 |
40,217,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9648:Gramd1b
|
UTSW |
9 |
40,244,793 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation