Incidental Mutation 'R3620:Gramd1b'
| ID |
268600 |
| 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: 0.125)
|
| Stock # |
R3620 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
40204529-40442679 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40366842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 42
(R42L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045682]
[ENSMUST00000119373]
[ENSMUST00000165104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045682
AA Change: R42L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000048126
Gene: ENSMUSG00000040111
AA Change: R42L
| 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: ENSMUST00000119373
|
| SMART Domains |
Protein: ENSMUSP00000112489
Gene: ENSMUSG00000040111
| 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 |
noncoding transcript
Transcript: ENSMUST00000129940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165104
AA Change: R42L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000130050
Gene: ENSMUSG00000040111
AA Change: R42L
| 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 |
|
| Meta Mutation Damage Score |
0.1327 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
| Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACCTACCTGCTTTCAC -3'
(R):5'- TTGATCTACTGGCAGGCTCG -3'
Sequencing Primer
(F):5'- GCAGGAAGCGTTTTCGGC -3'
(R):5'- TCCCGCTGAACGTGAGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation