Incidental Mutation 'R0038:Gramd1b'
| ID |
18588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd1b
|
| Ensembl Gene |
ENSMUSG00000040111 |
| Gene Name |
GRAM domain containing 1B |
| Synonyms |
A930008A22Rik |
| MMRRC Submission |
038332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0038 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40228822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 252
(T252M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045682]
[ENSMUST00000118159]
[ENSMUST00000119373]
[ENSMUST00000121357]
[ENSMUST00000211853]
[ENSMUST00000165104]
[ENSMUST00000216821]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045682
AA Change: T252M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: T252M
| 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 |
probably damaging
Transcript: ENSMUST00000118159
AA Change: T68M
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: T68M
| 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 |
probably damaging
Transcript: ENSMUST00000119373
AA Change: T135M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: T135M
| 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 damaging
Transcript: ENSMUST00000121357
AA Change: T104M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: T104M
| 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 |
noncoding transcript
Transcript: ENSMUST00000137189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153029
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211853
AA Change: T137M
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165104
AA Change: T252M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: T252M
| 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: ENSMUST00000216821
AA Change: T108M
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.2079 |
| Coding Region Coverage |
- 1x: 83.6%
- 3x: 76.1%
- 10x: 58.6%
- 20x: 40.4%
|
| Validation Efficiency |
91% (67/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,896 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
| Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
| Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
| Krtap9-5 |
G |
A |
11: 99,839,428 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,272 (GRCm39) |
E723V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
| Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
| Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation