Incidental Mutation 'R3439:Glb1l'
| ID |
267300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l
|
| Ensembl Gene |
ENSMUSG00000026200 |
| Gene Name |
galactosidase, beta 1-like |
| Synonyms |
4833408P15Rik |
| MMRRC Submission |
040657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R3439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75174880-75187457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75179264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 222
(C222S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113623]
[ENSMUST00000145459]
[ENSMUST00000155716]
[ENSMUST00000152233]
[ENSMUST00000185448]
|
| AlphaFold |
Q8VC60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113623
AA Change: C222S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: C222S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
34 |
351 |
4.1e-123 |
PFAM |
|
Pfam:Glyco_hydro_42
|
48 |
209 |
6.6e-12 |
PFAM |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145459
|
| SMART Domains |
Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
1e-9 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146713
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155716
AA Change: C222S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: C222S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
34 |
351 |
4.2e-125 |
PFAM |
|
Pfam:Glyco_hydro_42
|
48 |
209 |
6.6e-12 |
PFAM |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152233
|
| SMART Domains |
Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
6e-11 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
Blast:ANK
|
515 |
545 |
2e-9 |
BLAST |
|
ANK
|
556 |
585 |
6.81e-3 |
SMART |
|
coiled coil region
|
628 |
681 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186173
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185448
|
| SMART Domains |
Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
34 |
188 |
1.6e-71 |
PFAM |
|
Pfam:Glyco_hydro_42
|
48 |
188 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189663
|
| Meta Mutation Damage Score |
0.6502 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
C |
A |
15: 10,381,511 (GRCm39) |
P255Q |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,790,508 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,873,322 (GRCm39) |
Y2458H |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,992 (GRCm39) |
T1779A |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Helq |
T |
C |
5: 100,946,170 (GRCm39) |
E57G |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,528,017 (GRCm39) |
T191A |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Med13 |
T |
C |
11: 86,176,123 (GRCm39) |
D1624G |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,860 (GRCm39) |
V218A |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,640,615 (GRCm39) |
S314P |
probably benign |
Het |
| Nwd2 |
G |
A |
5: 63,961,895 (GRCm39) |
R493H |
probably benign |
Het |
| Or4f58 |
T |
C |
2: 111,851,792 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,759 (GRCm39) |
H55L |
possibly damaging |
Het |
| Palm |
C |
T |
10: 79,652,618 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,752 (GRCm39) |
E1115G |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,096,359 (GRCm39) |
F577L |
probably benign |
Het |
| Rnpepl1 |
A |
T |
1: 92,844,662 (GRCm39) |
T385S |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,081 (GRCm39) |
I35F |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,365,187 (GRCm39) |
S623N |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,354,700 (GRCm39) |
E1380G |
unknown |
Het |
| Tet2 |
G |
T |
3: 133,172,592 (GRCm39) |
A1890D |
possibly damaging |
Het |
| Tfr2 |
G |
T |
5: 137,572,913 (GRCm39) |
V215F |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwde |
T |
A |
6: 13,208,374 (GRCm39) |
L169F |
probably damaging |
Het |
|
| Other mutations in Glb1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Glb1l
|
APN |
1 |
75,177,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01477:Glb1l
|
APN |
1 |
75,185,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Glb1l
|
UTSW |
1 |
75,185,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Glb1l
|
UTSW |
1 |
75,176,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Glb1l
|
UTSW |
1 |
75,176,245 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1842:Glb1l
|
UTSW |
1 |
75,177,104 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2508:Glb1l
|
UTSW |
1 |
75,178,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2920:Glb1l
|
UTSW |
1 |
75,185,834 (GRCm39) |
missense |
probably benign |
|
|
R4096:Glb1l
|
UTSW |
1 |
75,186,084 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R4517:Glb1l
|
UTSW |
1 |
75,185,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Glb1l
|
UTSW |
1 |
75,176,994 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4851:Glb1l
|
UTSW |
1 |
75,185,528 (GRCm39) |
unclassified |
probably benign |
|
|
R4859:Glb1l
|
UTSW |
1 |
75,176,963 (GRCm39) |
splice site |
probably benign |
|
|
R4951:Glb1l
|
UTSW |
1 |
75,185,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Glb1l
|
UTSW |
1 |
75,178,051 (GRCm39) |
missense |
probably benign |
|
|
R6519:Glb1l
|
UTSW |
1 |
75,177,700 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6693:Glb1l
|
UTSW |
1 |
75,185,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:Glb1l
|
UTSW |
1 |
75,179,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6833:Glb1l
|
UTSW |
1 |
75,178,397 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6834:Glb1l
|
UTSW |
1 |
75,178,397 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7068:Glb1l
|
UTSW |
1 |
75,179,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Glb1l
|
UTSW |
1 |
75,179,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Glb1l
|
UTSW |
1 |
75,178,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Glb1l
|
UTSW |
1 |
75,176,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Glb1l
|
UTSW |
1 |
75,177,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9538:Glb1l
|
UTSW |
1 |
75,178,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCACATTGTCAGCTGC -3'
(R):5'- GCATTCAGGTATGACTGGGAAG -3'
Sequencing Primer
(F):5'- TGGTCACATTGTCAGCTGCAAAAG -3'
(R):5'- GCTGGCCACGAGACATAGTAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation