Incidental Mutation 'R9216:B3galnt2'
| ID |
699212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3galnt2
|
| Ensembl Gene |
ENSMUSG00000039242 |
| Gene Name |
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 |
| Synonyms |
D230016N13Rik, A930105D20Rik |
| MMRRC Submission |
068958-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14129059-14173688 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14165423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099747]
[ENSMUST00000220681]
[ENSMUST00000221300]
[ENSMUST00000221974]
[ENSMUST00000222110]
[ENSMUST00000223483]
|
| AlphaFold |
Q8BG28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099747
AA Change: V273A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: V273A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
300 |
460 |
2.9e-26 |
PFAM |
|
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220681
AA Change: V54A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221300
AA Change: V273A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221974
AA Change: V273A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223483
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 52,927,668 (GRCm39) |
T193S |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,049 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bag3 |
C |
A |
7: 128,143,923 (GRCm39) |
D306E |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,177,514 (GRCm39) |
P2076S |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,563 (GRCm39) |
L541V |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,820,465 (GRCm39) |
D492V |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,615 (GRCm39) |
S563N |
possibly damaging |
Het |
| Cnn1 |
C |
G |
9: 22,019,474 (GRCm39) |
L281V |
probably benign |
Het |
| Egflam |
G |
A |
15: 7,281,942 (GRCm39) |
T398I |
probably benign |
Het |
| Eif4g2 |
T |
G |
7: 110,673,415 (GRCm39) |
D788A |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,108,546 (GRCm39) |
E66G |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,276,887 (GRCm39) |
D87V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,820,425 (GRCm39) |
D5386V |
probably damaging |
Het |
| Ftl1 |
A |
C |
7: 45,108,959 (GRCm39) |
S33A |
probably benign |
Het |
| Gm21560 |
T |
C |
14: 6,218,338 (GRCm38) |
R47G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,429 (GRCm39) |
C162S |
probably benign |
Het |
| Katnip |
T |
A |
7: 125,471,926 (GRCm39) |
I1531N |
probably damaging |
Het |
| Kremen2 |
C |
T |
17: 23,962,781 (GRCm39) |
A102T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,972 (GRCm39) |
Q480L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,823,188 (GRCm39) |
C1387R |
probably benign |
Het |
| Nmi |
A |
G |
2: 51,846,003 (GRCm39) |
V93A |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,117,397 (GRCm39) |
K484R |
possibly damaging |
Het |
| Olig1 |
T |
C |
16: 91,066,915 (GRCm39) |
S51P |
probably benign |
Het |
| Or6c76 |
A |
T |
10: 129,611,796 (GRCm39) |
R4S |
probably benign |
Het |
| Pah |
G |
T |
10: 87,357,888 (GRCm39) |
V4F |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
A |
T |
5: 94,450,952 (GRCm39) |
N391K |
possibly damaging |
Het |
| Prox1 |
C |
A |
1: 189,892,905 (GRCm39) |
E513D |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,539 (GRCm39) |
N214S |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,108,628 (GRCm39) |
S505G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,801,277 (GRCm39) |
L829H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,304,401 (GRCm39) |
D852E |
|
Het |
| Senp2 |
T |
C |
16: 21,847,344 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
A |
G |
1: 55,051,376 (GRCm39) |
V184A |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,955 (GRCm39) |
T1226A |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,637,692 (GRCm39) |
R406H |
probably damaging |
Het |
| Slc26a4 |
C |
A |
12: 31,578,659 (GRCm39) |
V665L |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,647,611 (GRCm39) |
Y932C |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,936,814 (GRCm39) |
N97I |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,748,504 (GRCm39) |
S4182P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,534,514 (GRCm39) |
S138P |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,292,285 (GRCm39) |
A393T |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,689,229 (GRCm39) |
P19T |
probably benign |
Het |
| Vcl |
T |
G |
14: 21,033,515 (GRCm39) |
L157W |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,703 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,257 (GRCm39) |
M240K |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,112 (GRCm39) |
S154T |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,974,724 (GRCm39) |
N37D |
probably benign |
Het |
| Zfc3h1 |
C |
G |
10: 115,221,528 (GRCm39) |
D142E |
unknown |
Het |
| Zmym6 |
T |
C |
4: 127,002,500 (GRCm39) |
V577A |
probably benign |
Het |
| Zxdc |
C |
A |
6: 90,359,189 (GRCm39) |
T607K |
probably benign |
Het |
|
| Other mutations in B3galnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:B3galnt2
|
APN |
13 |
14,162,016 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01149:B3galnt2
|
APN |
13 |
14,155,270 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01814:B3galnt2
|
APN |
13 |
14,161,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:B3galnt2
|
APN |
13 |
14,171,618 (GRCm39) |
makesense |
probably null |
|
|
R0106:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
|
R0349:B3galnt2
|
UTSW |
13 |
14,166,059 (GRCm39) |
missense |
probably benign |
|
|
R0676:B3galnt2
|
UTSW |
13 |
14,170,378 (GRCm39) |
missense |
probably benign |
|
|
R1522:B3galnt2
|
UTSW |
13 |
14,145,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:B3galnt2
|
UTSW |
13 |
14,166,119 (GRCm39) |
nonsense |
probably null |
|
|
R2035:B3galnt2
|
UTSW |
13 |
14,140,909 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3686:B3galnt2
|
UTSW |
13 |
14,150,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3954:B3galnt2
|
UTSW |
13 |
14,141,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5369:B3galnt2
|
UTSW |
13 |
14,169,010 (GRCm39) |
splice site |
probably null |
|
|
R5435:B3galnt2
|
UTSW |
13 |
14,171,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5564:B3galnt2
|
UTSW |
13 |
14,169,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:B3galnt2
|
UTSW |
13 |
14,169,737 (GRCm39) |
splice site |
probably null |
|
|
R6118:B3galnt2
|
UTSW |
13 |
14,166,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6396:B3galnt2
|
UTSW |
13 |
14,170,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6529:B3galnt2
|
UTSW |
13 |
14,170,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6656:B3galnt2
|
UTSW |
13 |
14,150,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7345:B3galnt2
|
UTSW |
13 |
14,155,065 (GRCm39) |
splice site |
probably null |
|
|
R7439:B3galnt2
|
UTSW |
13 |
14,169,070 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7441:B3galnt2
|
UTSW |
13 |
14,169,070 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7582:B3galnt2
|
UTSW |
13 |
14,165,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:B3galnt2
|
UTSW |
13 |
14,169,077 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8135:B3galnt2
|
UTSW |
13 |
14,145,454 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9229:B3galnt2
|
UTSW |
13 |
14,166,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:B3galnt2
|
UTSW |
13 |
14,170,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:B3galnt2
|
UTSW |
13 |
14,150,136 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCAGTATCTGCTGTAGGGC -3'
(R):5'- AAGAGTCCAACTATGCTTTACTTGC -3'
Sequencing Primer
(F):5'- TGTAGGGCAGGCACCTTG -3'
(R):5'- CACAGCTCAGAATGGCTTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation