Incidental Mutation 'R2973:Ugt8a'
| ID |
255269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt8a
|
| Ensembl Gene |
ENSMUSG00000032854 |
| Gene Name |
UDP galactosyltransferase 8A |
| Synonyms |
Ugt8, Cgt, mCerGT |
| MMRRC Submission |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.804)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
125658920-125732268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125708957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 51
(H51R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057944]
[ENSMUST00000198610]
|
| AlphaFold |
Q64676 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057944
AA Change: H51R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: H51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
21 |
510 |
4.2e-121 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
326 |
437 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196481
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198610
AA Change: H51R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: H51R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
21 |
510 |
4.2e-121 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
326 |
437 |
6.4e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
|
| Other mutations in Ugt8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ugt8a
|
APN |
3 |
125,708,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01934:Ugt8a
|
APN |
3 |
125,708,424 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02435:Ugt8a
|
APN |
3 |
125,660,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03050:Ugt8a
|
UTSW |
3 |
125,669,139 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0041:Ugt8a
|
UTSW |
3 |
125,708,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0453:Ugt8a
|
UTSW |
3 |
125,708,606 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1314:Ugt8a
|
UTSW |
3 |
125,665,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Ugt8a
|
UTSW |
3 |
125,709,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1566:Ugt8a
|
UTSW |
3 |
125,669,207 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1770:Ugt8a
|
UTSW |
3 |
125,667,852 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2126:Ugt8a
|
UTSW |
3 |
125,669,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2972:Ugt8a
|
UTSW |
3 |
125,708,957 (GRCm39) |
missense |
probably benign |
|
|
R3547:Ugt8a
|
UTSW |
3 |
125,661,031 (GRCm39) |
nonsense |
probably null |
|
|
R3906:Ugt8a
|
UTSW |
3 |
125,708,631 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3907:Ugt8a
|
UTSW |
3 |
125,708,631 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4032:Ugt8a
|
UTSW |
3 |
125,667,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5235:Ugt8a
|
UTSW |
3 |
125,661,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Ugt8a
|
UTSW |
3 |
125,669,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6790:Ugt8a
|
UTSW |
3 |
125,665,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6937:Ugt8a
|
UTSW |
3 |
125,709,250 (GRCm39) |
start gained |
probably benign |
|
|
R7298:Ugt8a
|
UTSW |
3 |
125,709,065 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8730:Ugt8a
|
UTSW |
3 |
125,732,105 (GRCm39) |
start gained |
probably benign |
|
|
R9211:Ugt8a
|
UTSW |
3 |
125,661,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9385:Ugt8a
|
UTSW |
3 |
125,665,263 (GRCm39) |
missense |
probably benign |
|
|
R9649:Ugt8a
|
UTSW |
3 |
125,708,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9666:Ugt8a
|
UTSW |
3 |
125,708,957 (GRCm39) |
missense |
probably benign |
|
|
R9762:Ugt8a
|
UTSW |
3 |
125,708,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCCAACCATCATGTCAC -3'
(R):5'- TTTTGAATGGCCACCCTCTATAATG -3'
Sequencing Primer
(F):5'- GTTGCCAACCATCATGTCACAATTC -3'
(R):5'- ATGGCCACCCTCTATAATGTTCTAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation