Incidental Mutation 'R8818:Gramd1b'
| ID |
672870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gramd1b
|
| Ensembl Gene |
ENSMUSG00000040111 |
| Gene Name |
GRAM domain containing 1B |
| Synonyms |
A930008A22Rik |
| MMRRC Submission |
068651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R8818 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40215780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 690
(I690K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048126
(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: I690K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: I690K
| 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: I506K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112417
Gene: ENSMUSG00000040111
AA Change: I506K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
AA Change: I573K
| 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: I542K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112564
Gene: ENSMUSG00000040111
AA Change: I542K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000116871
Gene: ENSMUSG00000040111
AA Change: I300K
| 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 |
probably benign
Transcript: ENSMUST00000165104
AA Change: I690K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: I690K
| 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: ENSMUST00000211853
AA Change: I575K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216821
AA Change: I546K
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,584,627 (GRCm39) |
V345A |
probably damaging |
Het |
| Anxa6 |
T |
G |
11: 54,902,578 (GRCm39) |
N52T |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,841,938 (GRCm39) |
H496Y |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,872,765 (GRCm39) |
E771G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,347 (GRCm39) |
T189A |
possibly damaging |
Het |
| Becn1 |
A |
T |
11: 101,186,230 (GRCm39) |
S125T |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 37,050,697 (GRCm39) |
M3011R |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,900,484 (GRCm39) |
M283V |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,771,323 (GRCm39) |
F35S |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,477 (GRCm39) |
I515N |
probably damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,068 (GRCm39) |
Y247C |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,240,899 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,874,764 (GRCm39) |
N4034Y |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,599 (GRCm39) |
I891V |
possibly damaging |
Het |
| Eid3 |
A |
G |
10: 82,703,441 (GRCm39) |
N301D |
probably damaging |
Het |
| Fbrs |
C |
A |
7: 127,078,694 (GRCm39) |
D108E |
unknown |
Het |
| Fbxw14 |
A |
C |
9: 109,116,071 (GRCm39) |
|
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,474 (GRCm39) |
T519A |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Gpr3 |
C |
A |
4: 132,938,538 (GRCm39) |
V45L |
possibly damaging |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Kcnj4 |
C |
A |
15: 79,369,920 (GRCm39) |
R20L |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,305,989 (GRCm39) |
I319V |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,221,892 (GRCm39) |
E135D |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,291,270 (GRCm39) |
Y602N |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,027 (GRCm39) |
L6* |
probably null |
Het |
| Naa35 |
C |
T |
13: 59,748,761 (GRCm39) |
T131M |
probably damaging |
Het |
| Nucb2 |
T |
A |
7: 116,121,136 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,062 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,078 (GRCm39) |
C179F |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,837 (GRCm39) |
T586I |
probably benign |
Het |
| Ppcs |
A |
T |
4: 119,279,330 (GRCm39) |
L74Q |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,216 (GRCm39) |
V677D |
probably benign |
Het |
| Psg27 |
C |
T |
7: 18,294,337 (GRCm39) |
G357S |
probably damaging |
Het |
| Ptgdr2 |
A |
G |
19: 10,918,380 (GRCm39) |
N299S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,353,762 (GRCm39) |
I39F |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,901,651 (GRCm39) |
S907R |
possibly damaging |
Het |
| Rnf170 |
T |
G |
8: 26,629,043 (GRCm39) |
D172E |
probably benign |
Het |
| Rnf31 |
C |
A |
14: 55,832,396 (GRCm39) |
Q273K |
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,983,336 (GRCm39) |
S93T |
probably damaging |
Het |
| Rsad1 |
A |
T |
11: 94,439,100 (GRCm39) |
V120D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,441 (GRCm39) |
A1870T |
probably damaging |
Het |
| Serpina10 |
T |
G |
12: 103,595,063 (GRCm39) |
D52A |
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,261,055 (GRCm39) |
I115T |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,920,543 (GRCm39) |
M426K |
probably benign |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
G |
7: 27,063,592 (GRCm39) |
E2283A |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,633,877 (GRCm39) |
C740R |
probably damaging |
Het |
| Tpgs2 |
A |
T |
18: 25,291,365 (GRCm39) |
V33E |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,592,823 (GRCm39) |
I116T |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,955,952 (GRCm39) |
N1138I |
possibly damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vamp9 |
A |
T |
5: 100,089,094 (GRCm39) |
N120Y |
probably damaging |
Het |
| Zswim9 |
G |
T |
7: 12,994,456 (GRCm39) |
Q567K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATACCTGCCACGTGCTTG -3'
(R):5'- AGGGCATGTGTTTTAGCAAGC -3'
Sequencing Primer
(F):5'- CCACGTGCTTGATCCTGTGG -3'
(R):5'- GGCTTCAAAAATACTTTGGCATGGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation