Incidental Mutation 'R2920:Glb1l'
| ID |
255451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l
|
| Ensembl Gene |
ENSMUSG00000026200 |
| Gene Name |
galactosidase, beta 1-like |
| Synonyms |
4833408P15Rik |
| MMRRC Submission |
040505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75174880-75187457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75185834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 31
(E31D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027401]
[ENSMUST00000113623]
[ENSMUST00000123825]
[ENSMUST00000155716]
[ENSMUST00000185448]
[ENSMUST00000144355]
[ENSMUST00000188460]
[ENSMUST00000189698]
[ENSMUST00000191108]
|
| AlphaFold |
Q8VC60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027401
|
| SMART Domains |
Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
290 |
3.3e-47 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
290 |
3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113623
AA Change: E31D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: E31D
| 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 |
probably benign
Transcript: ENSMUST00000123825
|
| SMART Domains |
Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
122 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155716
AA Change: E31D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: E31D
| 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 |
probably benign
Transcript: ENSMUST00000185448
AA Change: E31D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: E31D
| 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 |
unknown
Transcript: ENSMUST00000186173
AA Change: E25D
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144355
|
| SMART Domains |
Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
122 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188460
|
| SMART Domains |
Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
172 |
1e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189698
|
| SMART Domains |
Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
203 |
1.1e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191108
|
| SMART Domains |
Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
20 |
186 |
8.6e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
184 |
2.1e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
| Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
| Cops7a |
A |
G |
6: 124,939,325 (GRCm39) |
V108A |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
| Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
| Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
| Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
| Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
| Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
| Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
| Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
| Pak6 |
A |
T |
2: 118,524,488 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
| Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,241,369 (GRCm39) |
L215P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,098 (GRCm39) |
V60A |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
| Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
possibly 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 |
|
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 |
|
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'- AAGTCAGTTTTCCTGGGGAAC -3'
(R):5'- CTGTCCCAGGTAAACCCAAAGG -3'
Sequencing Primer
(F):5'- GAACCCCATTCTAAGGAAGAGG -3'
(R):5'- AAAGGGTCGGACTGTCTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation