Incidental Mutation 'R7193:Gbe1'
| ID |
559745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gbe1
|
| Ensembl Gene |
ENSMUSG00000022707 |
| Gene Name |
1,4-alpha-glucan branching enzyme 1 |
| Synonyms |
2310045H19Rik, D16Ertd536e, 2810426P10Rik |
| MMRRC Submission |
045334-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
70110837-70366604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70292258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 530
(L530P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023393]
[ENSMUST00000163832]
[ENSMUST00000170464]
[ENSMUST00000171132]
|
| AlphaFold |
Q9D6Y9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023393
AA Change: L530P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CBM_48
|
75 |
161 |
9.4e-17 |
PFAM |
|
Pfam:Alpha-amylase
|
218 |
336 |
1.1e-17 |
PFAM |
|
Pfam:Alpha-amylase_C
|
603 |
698 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163832
AA Change: L530P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CBM_48
|
75 |
161 |
6e-19 |
PFAM |
|
Pfam:Alpha-amylase
|
220 |
337 |
5.9e-14 |
PFAM |
|
Pfam:Alpha-amylase_C
|
603 |
698 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170464
AA Change: L530P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CBM_48
|
75 |
161 |
9.4e-17 |
PFAM |
|
Pfam:Alpha-amylase
|
218 |
336 |
1.1e-17 |
PFAM |
|
Pfam:Alpha-amylase_C
|
603 |
698 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171132
AA Change: L530P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: L530P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
9 |
N/A |
INTRINSIC |
|
Pfam:CBM_48
|
75 |
161 |
1.8e-17 |
PFAM |
|
Pfam:Alpha-amylase
|
218 |
338 |
2.7e-18 |
PFAM |
|
Pfam:Alpha-amylase_C
|
603 |
650 |
4.1e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Chemically induced(1)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
| Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
| Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,947,111 (GRCm39) |
T201A |
probably benign |
Het |
| Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
| Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
| Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,526,612 (GRCm39) |
E661G |
probably damaging |
Het |
| Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
| Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,007,512 (GRCm39) |
H625Q |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
| Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
| Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,645,929 (GRCm39) |
V318M |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
probably benign |
Het |
|
| Other mutations in Gbe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Gbe1
|
APN |
16 |
70,198,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01783:Gbe1
|
APN |
16 |
70,275,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Gbe1
|
APN |
16 |
70,231,546 (GRCm39) |
splice site |
probably benign |
|
|
IGL02635:Gbe1
|
APN |
16 |
70,365,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Gbe1
|
APN |
16 |
70,357,983 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03331:Gbe1
|
APN |
16 |
70,230,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03138:Gbe1
|
UTSW |
16 |
70,325,951 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4515001:Gbe1
|
UTSW |
16 |
70,238,004 (GRCm39) |
nonsense |
probably null |
|
|
R0044:Gbe1
|
UTSW |
16 |
70,358,020 (GRCm39) |
nonsense |
probably null |
|
|
R0044:Gbe1
|
UTSW |
16 |
70,358,020 (GRCm39) |
nonsense |
probably null |
|
|
R0131:Gbe1
|
UTSW |
16 |
70,157,740 (GRCm39) |
splice site |
probably benign |
|
|
R0178:Gbe1
|
UTSW |
16 |
70,275,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Gbe1
|
UTSW |
16 |
70,280,802 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1036:Gbe1
|
UTSW |
16 |
70,325,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Gbe1
|
UTSW |
16 |
70,178,738 (GRCm39) |
intron |
probably benign |
|
|
R1759:Gbe1
|
UTSW |
16 |
70,284,929 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1780:Gbe1
|
UTSW |
16 |
70,292,212 (GRCm39) |
nonsense |
probably null |
|
|
R1998:Gbe1
|
UTSW |
16 |
70,365,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Gbe1
|
UTSW |
16 |
70,325,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Gbe1
|
UTSW |
16 |
70,325,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Gbe1
|
UTSW |
16 |
70,233,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:Gbe1
|
UTSW |
16 |
70,233,909 (GRCm39) |
splice site |
probably null |
|
|
R2434:Gbe1
|
UTSW |
16 |
70,238,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4114:Gbe1
|
UTSW |
16 |
70,280,715 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4528:Gbe1
|
UTSW |
16 |
70,275,225 (GRCm39) |
missense |
probably benign |
|
|
R4736:Gbe1
|
UTSW |
16 |
70,292,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Gbe1
|
UTSW |
16 |
70,275,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Gbe1
|
UTSW |
16 |
70,325,763 (GRCm39) |
splice site |
probably null |
|
|
R6222:Gbe1
|
UTSW |
16 |
70,325,900 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6527:Gbe1
|
UTSW |
16 |
70,230,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6770:Gbe1
|
UTSW |
16 |
70,198,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6770:Gbe1
|
UTSW |
16 |
70,111,153 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6941:Gbe1
|
UTSW |
16 |
70,230,444 (GRCm39) |
small deletion |
probably benign |
|
|
R7232:Gbe1
|
UTSW |
16 |
70,233,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7343:Gbe1
|
UTSW |
16 |
70,157,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7810:Gbe1
|
UTSW |
16 |
70,324,085 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7822:Gbe1
|
UTSW |
16 |
70,230,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7876:Gbe1
|
UTSW |
16 |
70,238,059 (GRCm39) |
missense |
probably benign |
|
|
R8319:Gbe1
|
UTSW |
16 |
70,284,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8487:Gbe1
|
UTSW |
16 |
70,233,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8958:Gbe1
|
UTSW |
16 |
70,275,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Gbe1
|
UTSW |
16 |
70,324,059 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9231:Gbe1
|
UTSW |
16 |
70,284,989 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9358:Gbe1
|
UTSW |
16 |
70,238,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9429:Gbe1
|
UTSW |
16 |
70,292,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9562:Gbe1
|
UTSW |
16 |
70,198,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9565:Gbe1
|
UTSW |
16 |
70,198,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCCGCATTCACCTCAATG -3'
(R):5'- CCAAACCAGTTGCTTAACACATTG -3'
Sequencing Primer
(F):5'- CGCATTCACCTCAATGGGTTGG -3'
(R):5'- CCAGTTGCTTAACACATTGATATTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation