Incidental Mutation 'R5471:Gcnt2'
| ID |
433833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcnt2
|
| Ensembl Gene |
ENSMUSG00000021360 |
| Gene Name |
glucosaminyl (N-acetyl) transferase 2 (I blood group) |
| Synonyms |
5330430K10Rik, IGnTB, IGnT, IGnTA, IGnTC |
| MMRRC Submission |
043032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R5471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41013417-41114368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41014195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 122
(Y122C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110191]
|
| AlphaFold |
P97402 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110191
AA Change: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105820
Gene: ENSMUSG00000021360
AA Change: Y122C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
95 |
357 |
5.2e-61 |
PFAM |
|
low complexity region
|
377 |
386 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9007 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
| Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
| Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
| Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
| Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
| Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
| Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
| Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
| Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
| Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
| Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
| Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
| Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
| Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
| Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
| Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
| Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
| Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
| Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
| Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
| Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
| Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
| Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
| Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
| Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
| Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
probably benign |
Het |
|
| Other mutations in Gcnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01523:Gcnt2
|
APN |
13 |
41,041,339 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01693:Gcnt2
|
APN |
13 |
41,041,549 (GRCm39) |
missense |
probably benign |
|
|
IGL02506:Gcnt2
|
APN |
13 |
41,040,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03184:Gcnt2
|
APN |
13 |
41,041,660 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB001:Gcnt2
|
UTSW |
13 |
41,072,040 (GRCm39) |
nonsense |
probably null |
|
|
BB011:Gcnt2
|
UTSW |
13 |
41,072,040 (GRCm39) |
nonsense |
probably null |
|
|
PIT4472001:Gcnt2
|
UTSW |
13 |
41,071,413 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0358:Gcnt2
|
UTSW |
13 |
41,014,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0734:Gcnt2
|
UTSW |
13 |
41,013,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1863:Gcnt2
|
UTSW |
13 |
41,014,577 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3103:Gcnt2
|
UTSW |
13 |
41,072,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3156:Gcnt2
|
UTSW |
13 |
41,014,654 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3893:Gcnt2
|
UTSW |
13 |
41,013,922 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4134:Gcnt2
|
UTSW |
13 |
41,041,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Gcnt2
|
UTSW |
13 |
41,041,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Gcnt2
|
UTSW |
13 |
41,041,666 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4422:Gcnt2
|
UTSW |
13 |
41,014,001 (GRCm39) |
nonsense |
probably null |
|
|
R4599:Gcnt2
|
UTSW |
13 |
41,040,966 (GRCm39) |
missense |
probably benign |
|
|
R4618:Gcnt2
|
UTSW |
13 |
41,111,670 (GRCm39) |
nonsense |
probably null |
|
|
R4908:Gcnt2
|
UTSW |
13 |
41,014,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Gcnt2
|
UTSW |
13 |
41,071,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5291:Gcnt2
|
UTSW |
13 |
41,072,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Gcnt2
|
UTSW |
13 |
41,014,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5463:Gcnt2
|
UTSW |
13 |
41,071,650 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5472:Gcnt2
|
UTSW |
13 |
41,107,055 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5493:Gcnt2
|
UTSW |
13 |
41,107,076 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5586:Gcnt2
|
UTSW |
13 |
41,014,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Gcnt2
|
UTSW |
13 |
41,071,675 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6244:Gcnt2
|
UTSW |
13 |
41,014,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Gcnt2
|
UTSW |
13 |
41,072,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Gcnt2
|
UTSW |
13 |
41,041,032 (GRCm39) |
frame shift |
probably null |
|
|
R7077:Gcnt2
|
UTSW |
13 |
41,013,896 (GRCm39) |
missense |
probably benign |
|
|
R7432:Gcnt2
|
UTSW |
13 |
41,040,688 (GRCm39) |
intron |
probably benign |
|
|
R7474:Gcnt2
|
UTSW |
13 |
41,111,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Gcnt2
|
UTSW |
13 |
41,041,157 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7599:Gcnt2
|
UTSW |
13 |
41,014,343 (GRCm39) |
nonsense |
probably null |
|
|
R7678:Gcnt2
|
UTSW |
13 |
41,107,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7806:Gcnt2
|
UTSW |
13 |
41,071,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Gcnt2
|
UTSW |
13 |
41,014,338 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7909:Gcnt2
|
UTSW |
13 |
41,013,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7924:Gcnt2
|
UTSW |
13 |
41,072,040 (GRCm39) |
nonsense |
probably null |
|
|
R8110:Gcnt2
|
UTSW |
13 |
41,071,198 (GRCm39) |
start gained |
probably benign |
|
|
R8287:Gcnt2
|
UTSW |
13 |
41,014,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Gcnt2
|
UTSW |
13 |
41,072,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8956:Gcnt2
|
UTSW |
13 |
41,041,204 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9225:Gcnt2
|
UTSW |
13 |
41,014,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Gcnt2
|
UTSW |
13 |
41,041,732 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Gcnt2
|
UTSW |
13 |
41,072,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTGCAGATGTTCAGTG -3'
(R):5'- CTTGGAGGCCACCAGATCTTTC -3'
Sequencing Primer
(F):5'- GGGAGAGTTTTTATACAGCGGAC -3'
(R):5'- CATGCAGTTCAGATCAGCTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation