Incidental Mutation 'R8264:Glce'
| ID |
639733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glce
|
| Ensembl Gene |
ENSMUSG00000032252 |
| Gene Name |
glucuronyl C5-epimerase |
| Synonyms |
Hsepi, C130034A12Rik, heparan sulfate-glucuronic acid C5-epimerase, 1110017N23Rik |
| MMRRC Submission |
067689-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8264 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61964526-62029891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61967712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 480
(F480L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034785]
[ENSMUST00000185675]
|
| AlphaFold |
Q9EPS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034785
AA Change: F480L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: F480L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:C5-epim_C
|
417 |
608 |
1.5e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185675
AA Change: F480L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: F480L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:C5-epim_C
|
417 |
608 |
6.1e-81 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die immediately after birth showing severe developmental defects including renal agenesis, lung abnormalities, and skeletal malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,543 (GRCm39) |
C911S |
probably damaging |
Het |
| Abcc4 |
T |
A |
14: 118,832,254 (GRCm39) |
N792I |
possibly damaging |
Het |
| Acacb |
A |
T |
5: 114,345,427 (GRCm39) |
H960L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,873 (GRCm39) |
T162A |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,364,392 (GRCm39) |
S18G |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,300 (GRCm39) |
I348N |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,016,648 (GRCm39) |
R12Q |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,795,971 (GRCm39) |
S136P |
possibly damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,357 (GRCm39) |
M2896K |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,148,755 (GRCm39) |
T215A |
probably damaging |
Het |
| Esyt2 |
A |
C |
12: 116,329,540 (GRCm39) |
Q699H |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,979,393 (GRCm39) |
T204A |
possibly damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,362,339 (GRCm39) |
S294P |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Galnt10 |
A |
G |
11: 57,673,032 (GRCm39) |
I463V |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,506,709 (GRCm39) |
V11A |
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,593 (GRCm39) |
T191A |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,323,086 (GRCm39) |
|
silent |
Het |
| Izumo4 |
G |
T |
10: 80,538,572 (GRCm39) |
G8V |
|
Het |
| Klk1b5 |
T |
A |
7: 43,869,454 (GRCm39) |
L178H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,343,218 (GRCm39) |
N85D |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,721 (GRCm39) |
I116R |
possibly damaging |
Het |
| Lpar5 |
T |
A |
6: 125,058,465 (GRCm39) |
V62D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,528 (GRCm39) |
I303F |
|
Het |
| Mymk |
A |
G |
2: 26,957,868 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
G |
A |
15: 25,800,195 (GRCm39) |
V1424M |
probably damaging |
Het |
| Myof |
T |
G |
19: 37,909,881 (GRCm39) |
Q1528P |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 27,006,038 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,884,738 (GRCm39) |
Y500N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,538 (GRCm39) |
D180G |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,543 (GRCm39) |
Y835C |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,030 (GRCm39) |
E95G |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,138 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pnn |
C |
T |
12: 59,119,363 (GRCm39) |
H649Y |
unknown |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,508 (GRCm39) |
Q764* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,175,370 (GRCm39) |
M1762K |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 51,980,290 (GRCm39) |
A496T |
noncoding transcript |
Het |
| Rnase13 |
A |
T |
14: 52,159,914 (GRCm39) |
V75D |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,881,537 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
C |
G |
1: 36,591,966 (GRCm39) |
G266R |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,376 (GRCm39) |
D87V |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,290 (GRCm39) |
Y421C |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,271,867 (GRCm39) |
V188A |
probably benign |
Het |
| Srms |
A |
G |
2: 180,854,343 (GRCm39) |
Y75H |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,077 (GRCm39) |
G208S |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,072,390 (GRCm39) |
S2646P |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,042,330 (GRCm39) |
I1130V |
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,954,689 (GRCm39) |
K18E |
possibly damaging |
Het |
| Unc5b |
G |
T |
10: 60,604,113 (GRCm39) |
T827K |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,302,969 (GRCm39) |
T1672S |
possibly damaging |
Het |
|
| Other mutations in Glce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Glce
|
APN |
9 |
61,967,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Glce
|
APN |
9 |
61,967,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02093:Glce
|
APN |
9 |
61,977,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Glce
|
APN |
9 |
61,977,883 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02243:Glce
|
APN |
9 |
61,977,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Glce
|
APN |
9 |
61,967,344 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0004:Glce
|
UTSW |
9 |
61,975,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Glce
|
UTSW |
9 |
61,968,282 (GRCm39) |
missense |
probably benign |
|
|
R1204:Glce
|
UTSW |
9 |
61,977,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1436:Glce
|
UTSW |
9 |
61,977,292 (GRCm39) |
splice site |
probably null |
|
|
R1475:Glce
|
UTSW |
9 |
61,968,210 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1622:Glce
|
UTSW |
9 |
61,977,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1712:Glce
|
UTSW |
9 |
61,977,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Glce
|
UTSW |
9 |
61,977,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2060:Glce
|
UTSW |
9 |
61,968,228 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4424:Glce
|
UTSW |
9 |
61,967,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Glce
|
UTSW |
9 |
61,975,777 (GRCm39) |
missense |
probably benign |
|
|
R5350:Glce
|
UTSW |
9 |
61,967,587 (GRCm39) |
nonsense |
probably null |
|
|
R5569:Glce
|
UTSW |
9 |
61,977,485 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5666:Glce
|
UTSW |
9 |
61,967,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Glce
|
UTSW |
9 |
61,967,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Glce
|
UTSW |
9 |
61,977,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Glce
|
UTSW |
9 |
61,967,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Glce
|
UTSW |
9 |
61,967,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Glce
|
UTSW |
9 |
61,977,716 (GRCm39) |
nonsense |
probably null |
|
|
R7549:Glce
|
UTSW |
9 |
61,968,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Glce
|
UTSW |
9 |
61,977,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7965:Glce
|
UTSW |
9 |
61,968,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Glce
|
UTSW |
9 |
61,967,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8743:Glce
|
UTSW |
9 |
61,968,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9048:Glce
|
UTSW |
9 |
61,967,413 (GRCm39) |
nonsense |
probably null |
|
|
X0057:Glce
|
UTSW |
9 |
61,967,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTACAAGGACCTTGCTTC -3'
(R):5'- TTGCTGCAAGTGACTGGCTAG -3'
Sequencing Primer
(F):5'- AAGGACCTTGCTTCTTTCCCAAG -3'
(R):5'- TGACTGGCTAGTGAGGAACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation