Incidental Mutation 'R1201:Csgalnact2'
| ID |
101366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csgalnact2
|
| Ensembl Gene |
ENSMUSG00000042042 |
| Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 2 |
| Synonyms |
4632415D10Rik, Galnact2 |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
118084413-118116101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118091393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 424
(S424P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049344]
[ENSMUST00000136265]
|
| AlphaFold |
Q8C1F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049344
AA Change: S424P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: S424P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:CHGN
|
53 |
516 |
3e-83 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
273 |
477 |
4.1e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
413 |
489 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125531
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136265
AA Change: S182P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: S182P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHGN
|
2 |
223 |
5.8e-45 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
31 |
223 |
6.5e-9 |
PFAM |
|
Pfam:Glyco_transf_7C
|
170 |
223 |
1.2e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| 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 chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
probably damaging |
Het |
|
| Other mutations in Csgalnact2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Csgalnact2
|
APN |
6 |
118,103,233 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
IGL00955:Csgalnact2
|
APN |
6 |
118,106,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Csgalnact2
|
APN |
6 |
118,103,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01757:Csgalnact2
|
APN |
6 |
118,106,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02687:Csgalnact2
|
APN |
6 |
118,101,376 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02833:Csgalnact2
|
APN |
6 |
118,106,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Csgalnact2
|
UTSW |
6 |
118,101,364 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0206:Csgalnact2
|
UTSW |
6 |
118,091,347 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0761:Csgalnact2
|
UTSW |
6 |
118,103,073 (GRCm39) |
splice site |
probably benign |
|
|
R2106:Csgalnact2
|
UTSW |
6 |
118,086,090 (GRCm39) |
nonsense |
probably null |
|
|
R3773:Csgalnact2
|
UTSW |
6 |
118,103,180 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3900:Csgalnact2
|
UTSW |
6 |
118,097,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Csgalnact2
|
UTSW |
6 |
118,103,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Csgalnact2
|
UTSW |
6 |
118,097,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Csgalnact2
|
UTSW |
6 |
118,103,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Csgalnact2
|
UTSW |
6 |
118,106,215 (GRCm39) |
nonsense |
probably null |
|
|
R7819:Csgalnact2
|
UTSW |
6 |
118,098,050 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9089:Csgalnact2
|
UTSW |
6 |
118,097,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Csgalnact2
|
UTSW |
6 |
118,103,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Csgalnact2
|
UTSW |
6 |
118,105,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCCTTTTGCATAGCACTCAAAC -3'
(R):5'- CCTCAGCTTCAAAGCAGTACAGGAC -3'
Sequencing Primer
(F):5'- GTGGCTGTAACACCTACGAC -3'
(R):5'- AAGTCCTGTGCTCATGCAGATTAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation