Incidental Mutation 'IGL02723:Gramd1b'
| ID |
305059 |
| 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: 0.146)
|
| Stock # |
IGL02723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40218127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 563
(E563G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130050
(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 damaging
Transcript: ENSMUST00000045682
AA Change: E563G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: E563G
| 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: E379G
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: E379G
| 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: E446G
|
| SMART Domains |
Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: E446G
| 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 |
probably benign
Transcript: ENSMUST00000121357
AA Change: E415G
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: E415G
| 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: E173G
|
| SMART Domains |
Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: E173G
| 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 damaging
Transcript: ENSMUST00000165104
AA Change: E563G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: E563G
| 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 |
possibly damaging
Transcript: ENSMUST00000211853
AA Change: E448G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216821
AA Change: E419G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn9 |
A |
T |
8: 125,335,922 (GRCm39) |
|
probably benign |
Het |
| Cchcr1 |
A |
C |
17: 35,841,699 (GRCm39) |
K761Q |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,516,507 (GRCm38) |
N347S |
probably benign |
Het |
| Csk |
G |
T |
9: 57,538,672 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,118,366 (GRCm39) |
K76E |
probably benign |
Het |
| Dpep1 |
G |
A |
8: 123,920,888 (GRCm39) |
A23T |
possibly damaging |
Het |
| Dpp8 |
T |
A |
9: 64,949,549 (GRCm39) |
M98K |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,323,041 (GRCm39) |
N61K |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,738,626 (GRCm39) |
Y364C |
probably damaging |
Het |
| Gfra1 |
A |
G |
19: 58,441,683 (GRCm39) |
S83P |
probably benign |
Het |
| Kcns2 |
G |
T |
15: 34,838,961 (GRCm39) |
W108L |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,015,446 (GRCm39) |
S1009T |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,443,506 (GRCm39) |
R311G |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,456,699 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,388,805 (GRCm39) |
H244R |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,707 (GRCm39) |
K92R |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,500 (GRCm39) |
|
probably benign |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,019,111 (GRCm39) |
I22F |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,171,673 (GRCm39) |
E599G |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,463 (GRCm39) |
S204P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
T |
8: 48,729,938 (GRCm39) |
V1356E |
probably benign |
Het |
| Trpc3 |
T |
A |
3: 36,704,377 (GRCm39) |
I527F |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,059,416 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,205,759 (GRCm39) |
I263L |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,619,893 (GRCm39) |
V1524L |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
| Other mutations in Gramd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Gramd1b
|
APN |
9 |
40,221,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation