Incidental Mutation 'I2288:Gramd1b'
ID |
7899 |
Institutional Source |
Beutler Lab
|
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 # |
I2288 (G3)
of strain
633
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40218101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 572
(I572V)
|
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: I572V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048126 Gene: ENSMUSG00000040111 AA Change: I572V
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 benign
Transcript: ENSMUST00000118159
AA Change: I388V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000112417 Gene: ENSMUSG00000040111 AA Change: I388V
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 benign
Transcript: ENSMUST00000119373
AA Change: I455V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112489 Gene: ENSMUSG00000040111 AA Change: I455V
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: I424V
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112564 Gene: ENSMUSG00000040111 AA Change: I424V
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 |
probably benign
Transcript: ENSMUST00000137454
AA Change: I182V
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116871 Gene: ENSMUSG00000040111 AA Change: I182V
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 |
possibly damaging
Transcript: ENSMUST00000211853
AA Change: I457V
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165104
AA Change: I572V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130050 Gene: ENSMUSG00000040111 AA Change: I572V
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 benign
Transcript: ENSMUST00000216821
AA Change: I428V
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.1025 |
Coding Region Coverage |
|
Validation Efficiency |
71% (138/195) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
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 |
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 |
2012-11-13 |