Incidental Mutation 'R1342:B3gnt9'
| ID |
247301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B3gnt9
|
| Ensembl Gene |
ENSMUSG00000069920 |
| Gene Name |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 |
| Synonyms |
B3gnt9-ps |
| MMRRC Submission |
039407-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1342 (G1)
|
| Quality Score |
64 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105979270-105981785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105980956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 144
(E144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034359]
[ENSMUST00000034361]
[ENSMUST00000093217]
[ENSMUST00000124113]
[ENSMUST00000136822]
[ENSMUST00000161745]
[ENSMUST00000141957]
[ENSMUST00000144762]
|
| AlphaFold |
Q8VI16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034359
|
| SMART Domains |
Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRADD_N
|
51 |
161 |
2.9e-49 |
PFAM |
|
DEATH
|
203 |
303 |
1.14e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034361
|
| SMART Domains |
Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
15 |
407 |
1.7e-161 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093217
AA Change: E144G
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133023
Gene: ENSMUSG00000069920
AA Change: E144G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
132 |
331 |
1e-40 |
PFAM |
|
Pfam:Fringe
|
212 |
335 |
3.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124113
|
| SMART Domains |
Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
13 |
120 |
1.9e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136239
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136822
AA Change: E144G
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130840
Gene: ENSMUSG00000069920
AA Change: E144G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
132 |
331 |
1e-40 |
PFAM |
|
Pfam:Fringe
|
212 |
335 |
3.6e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161745
AA Change: E144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125145
Gene: ENSMUSG00000069920
AA Change: E144G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141957
|
| SMART Domains |
Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0183
|
13 |
161 |
2.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144762
|
| SMART Domains |
Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1F2H|A
|
1 |
50 |
7e-23 |
PDB |
|
SCOP:d1f3va_
|
8 |
50 |
4e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.6436 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,465,894 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
G |
T |
3: 97,113,042 (GRCm39) |
Q1138K |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,231 (GRCm39) |
|
probably benign |
Het |
| Ccl4 |
A |
G |
11: 83,554,402 (GRCm39) |
|
probably benign |
Het |
| Cdc73 |
A |
G |
1: 143,578,230 (GRCm39) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,593,283 (GRCm39) |
L1140* |
probably null |
Het |
| Chd4 |
C |
A |
6: 125,074,151 (GRCm39) |
P8Q |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,175,351 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
G |
A |
1: 24,262,701 (GRCm39) |
|
probably null |
Het |
| Colgalt1 |
C |
T |
8: 72,070,804 (GRCm39) |
T232I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,939,974 (GRCm39) |
D1640G |
probably damaging |
Het |
| Dot1l |
T |
G |
10: 80,621,859 (GRCm39) |
C504G |
probably benign |
Het |
| Gm9892 |
T |
C |
8: 52,649,458 (GRCm39) |
T212A |
probably benign |
Het |
| Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,200,809 (GRCm39) |
D350G |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,419,210 (GRCm39) |
I1144V |
probably benign |
Het |
| Ipo7 |
A |
T |
7: 109,629,011 (GRCm39) |
N94Y |
possibly damaging |
Het |
| Irag1 |
T |
A |
7: 110,487,252 (GRCm39) |
M699L |
probably benign |
Het |
| Mapkbp1 |
C |
A |
2: 119,829,015 (GRCm39) |
A57D |
possibly damaging |
Het |
| Mmd |
T |
A |
11: 90,167,676 (GRCm39) |
I235N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Palld |
A |
G |
8: 61,975,916 (GRCm39) |
|
probably null |
Het |
| Parp4 |
G |
A |
14: 56,827,854 (GRCm39) |
E202K |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,732,191 (GRCm39) |
|
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,952,042 (GRCm39) |
|
probably null |
Het |
| Pdgfrb |
T |
A |
18: 61,198,952 (GRCm39) |
L370* |
probably null |
Het |
| Phf2 |
A |
T |
13: 48,957,953 (GRCm39) |
S1020R |
unknown |
Het |
| Pik3r4 |
T |
A |
9: 105,528,100 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
C |
A |
9: 108,929,720 (GRCm39) |
P192Q |
possibly damaging |
Het |
| Ppil3 |
A |
T |
1: 58,480,037 (GRCm39) |
I46N |
probably damaging |
Het |
| Prr14l |
A |
C |
5: 32,987,604 (GRCm39) |
C630W |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,723 (GRCm39) |
I341V |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,581,148 (GRCm39) |
K2895E |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,447,435 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,362,790 (GRCm39) |
T10A |
probably damaging |
Het |
| Ss18 |
A |
G |
18: 14,769,595 (GRCm39) |
Y321H |
unknown |
Het |
| Sspo |
A |
G |
6: 48,438,569 (GRCm39) |
N1546D |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,888,925 (GRCm39) |
L923F |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in B3gnt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0687:B3gnt9
|
UTSW |
8 |
105,981,415 (GRCm39) |
start gained |
probably benign |
|
|
R2378:B3gnt9
|
UTSW |
8 |
105,981,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:B3gnt9
|
UTSW |
8 |
105,980,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4931:B3gnt9
|
UTSW |
8 |
105,980,876 (GRCm39) |
missense |
probably benign |
|
|
R5007:B3gnt9
|
UTSW |
8 |
105,981,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:B3gnt9
|
UTSW |
8 |
105,981,230 (GRCm39) |
missense |
probably benign |
|
|
R6440:B3gnt9
|
UTSW |
8 |
105,980,531 (GRCm39) |
splice site |
probably null |
|
|
R7159:B3gnt9
|
UTSW |
8 |
105,981,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7558:B3gnt9
|
UTSW |
8 |
105,981,304 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8341:B3gnt9
|
UTSW |
8 |
105,980,497 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9568:B3gnt9
|
UTSW |
8 |
105,980,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:B3gnt9
|
UTSW |
8 |
105,981,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCGAAAGCCCAGAGCAGAATG -3'
(R):5'- CTGGAGCTGAGGTTAGAAGCTGAAC -3'
Sequencing Primer
(F):5'- AATGTCTGCATAAGCTCGGC -3'
(R):5'- GCTTACGCTGCTGCTCAG -3'
|
| Posted On |
2014-11-05 |
Incidental Mutation