Incidental Mutation 'R6713:Glb1l'
| ID |
529191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l
|
| Ensembl Gene |
ENSMUSG00000026200 |
| Gene Name |
galactosidase, beta 1-like |
| Synonyms |
4833408P15Rik |
| MMRRC Submission |
044831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R6713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75174880-75187457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75179061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 253
(H253Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113623]
[ENSMUST00000145459]
[ENSMUST00000155716]
[ENSMUST00000152233]
[ENSMUST00000185448]
|
| AlphaFold |
Q8VC60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113623
AA Change: H253Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: H253Q
| 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 benign
Transcript: ENSMUST00000155716
AA Change: H253Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: H253Q
| 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 |
unknown
Transcript: ENSMUST00000186173
AA Change: H157Q
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189663
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000186148
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000153584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185449
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol10a |
C |
T |
15: 77,373,051 (GRCm39) |
T229M |
possibly damaging |
Het |
| Cdh16 |
G |
A |
8: 105,346,617 (GRCm39) |
Q226* |
probably null |
Het |
| Cemip |
A |
T |
7: 83,592,845 (GRCm39) |
N1227K |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,798,541 (GRCm39) |
V41A |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,847,432 (GRCm39) |
M484K |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,363,190 (GRCm39) |
E775G |
probably damaging |
Het |
| Hipk3 |
C |
T |
2: 104,276,916 (GRCm39) |
V388M |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,232,908 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,453,544 (GRCm39) |
T1491A |
probably benign |
Het |
| Klre1 |
A |
G |
6: 129,559,229 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
T |
4: 129,547,777 (GRCm39) |
L257M |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,515,955 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
C |
A |
3: 65,591,380 (GRCm39) |
A39D |
probably benign |
Het |
| Lins1 |
A |
G |
7: 66,358,230 (GRCm39) |
T122A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,769,350 (GRCm39) |
R516Q |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,255 (GRCm39) |
G72* |
probably null |
Het |
| Mpo |
A |
G |
11: 87,686,194 (GRCm39) |
T115A |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,537 (GRCm39) |
V66A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nags |
C |
A |
11: 102,037,347 (GRCm39) |
A146E |
probably benign |
Het |
| Nkain4 |
C |
T |
2: 180,585,970 (GRCm39) |
G31D |
probably damaging |
Het |
| Or2y1 |
T |
G |
11: 49,385,784 (GRCm39) |
C141W |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,181 (GRCm39) |
H305L |
probably benign |
Het |
| Or5ak24 |
A |
C |
2: 85,260,883 (GRCm39) |
C97G |
probably damaging |
Het |
| Or8a1 |
A |
G |
9: 37,641,560 (GRCm39) |
C240R |
probably damaging |
Het |
| Otud6b |
C |
T |
4: 14,822,739 (GRCm39) |
V122I |
probably benign |
Het |
| Ovca2 |
C |
T |
11: 75,069,569 (GRCm39) |
S18N |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,823,916 (GRCm39) |
S370G |
unknown |
Het |
| Pias2 |
G |
A |
18: 77,153,416 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,128 (GRCm39) |
F263L |
probably damaging |
Het |
| Slc6a17 |
T |
G |
3: 107,378,703 (GRCm39) |
M660L |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,323,638 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,134,089 (GRCm39) |
T937A |
probably benign |
Het |
| Ssh2 |
C |
A |
11: 77,340,259 (GRCm39) |
D470E |
possibly damaging |
Het |
| St8sia1 |
A |
T |
6: 142,775,008 (GRCm39) |
|
probably null |
Het |
| Supt20 |
T |
A |
3: 54,606,022 (GRCm39) |
I36K |
possibly damaging |
Het |
| Tor1aip2 |
T |
A |
1: 155,941,155 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp619 |
G |
T |
7: 39,187,322 (GRCm39) |
K1117N |
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 |
|
|
R3439:Glb1l
|
UTSW |
1 |
75,179,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACATGTTCACACTGGCTCC -3'
(R):5'- TTTGGCCCAGGTCTCTTAAAC -3'
Sequencing Primer
(F):5'- CTAGTCCTTGGGCTACAGCTG -3'
(R):5'- CCCAGGTCTCTTAAACAAGGGTTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation