Incidental Mutation 'IGL02215:Csgalnact1'
ID |
284849 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csgalnact1
|
Ensembl Gene |
ENSMUSG00000036356 |
Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
Synonyms |
CSGalNAcT-1, 4732435N03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
IGL02215
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 68854144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 219
(G219V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078350]
[ENSMUST00000130214]
[ENSMUST00000136060]
|
AlphaFold |
Q8BJQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078350
AA Change: G219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077459 Gene: ENSMUSG00000036356 AA Change: G219V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:CHGN
|
55 |
505 |
3.5e-85 |
PFAM |
Pfam:Glyco_tranf_2_2
|
263 |
478 |
3.2e-10 |
PFAM |
Pfam:Glyco_transf_7C
|
409 |
478 |
1.7e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130214
AA Change: G219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119817 Gene: ENSMUSG00000036356 AA Change: G219V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:CHGN
|
71 |
505 |
1.1e-59 |
PFAM |
Pfam:Glyco_tranf_2_2
|
263 |
478 |
3.6e-10 |
PFAM |
Pfam:Glyco_transf_7C
|
405 |
478 |
3.4e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136060
AA Change: G219V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116134 Gene: ENSMUSG00000036356 AA Change: G219V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:CHGN
|
66 |
300 |
1.6e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length, short limbs, and abnormal cartilage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
Smg5 |
T |
C |
3: 88,260,305 (GRCm39) |
S632P |
possibly damaging |
Het |
Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Csgalnact1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02015:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02025:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02037:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02059:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02074:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02079:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02080:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02094:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02127:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02128:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02157:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02158:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02201:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02206:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02207:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02214:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02229:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02243:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02247:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02248:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02250:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02389:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02394:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02397:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02400:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02404:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02405:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02406:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02428:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02436:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02438:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02472:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02474:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02475:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02529:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02530:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02531:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02543:Csgalnact1
|
APN |
8 |
68,913,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02620:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02625:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02671:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02674:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02685:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02697:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02698:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Csgalnact1
|
APN |
8 |
68,854,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02985:Csgalnact1
|
APN |
8 |
68,913,695 (GRCm39) |
missense |
probably benign |
0.02 |
R0173:Csgalnact1
|
UTSW |
8 |
68,913,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Csgalnact1
|
UTSW |
8 |
68,811,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Csgalnact1
|
UTSW |
8 |
68,826,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1873:Csgalnact1
|
UTSW |
8 |
68,854,036 (GRCm39) |
missense |
probably benign |
0.02 |
R1955:Csgalnact1
|
UTSW |
8 |
68,825,319 (GRCm39) |
missense |
probably benign |
|
R2421:Csgalnact1
|
UTSW |
8 |
68,914,160 (GRCm39) |
missense |
probably benign |
0.42 |
R3195:Csgalnact1
|
UTSW |
8 |
68,913,737 (GRCm39) |
frame shift |
probably null |
|
R3196:Csgalnact1
|
UTSW |
8 |
68,913,737 (GRCm39) |
frame shift |
probably null |
|
R3951:Csgalnact1
|
UTSW |
8 |
68,913,914 (GRCm39) |
missense |
probably benign |
|
R4304:Csgalnact1
|
UTSW |
8 |
68,825,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4989:Csgalnact1
|
UTSW |
8 |
68,913,623 (GRCm39) |
missense |
probably benign |
0.01 |
R5133:Csgalnact1
|
UTSW |
8 |
68,913,623 (GRCm39) |
missense |
probably benign |
0.01 |
R5134:Csgalnact1
|
UTSW |
8 |
68,913,623 (GRCm39) |
missense |
probably benign |
0.01 |
R5503:Csgalnact1
|
UTSW |
8 |
68,914,125 (GRCm39) |
missense |
probably damaging |
0.98 |
R5812:Csgalnact1
|
UTSW |
8 |
68,854,036 (GRCm39) |
missense |
probably benign |
0.02 |
R6143:Csgalnact1
|
UTSW |
8 |
68,826,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:Csgalnact1
|
UTSW |
8 |
68,811,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Csgalnact1
|
UTSW |
8 |
68,913,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Csgalnact1
|
UTSW |
8 |
68,913,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R7023:Csgalnact1
|
UTSW |
8 |
68,811,081 (GRCm39) |
missense |
probably benign |
|
R8318:Csgalnact1
|
UTSW |
8 |
68,913,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R8446:Csgalnact1
|
UTSW |
8 |
68,913,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R8519:Csgalnact1
|
UTSW |
8 |
68,854,105 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8674:Csgalnact1
|
UTSW |
8 |
68,826,268 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8782:Csgalnact1
|
UTSW |
8 |
68,811,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9210:Csgalnact1
|
UTSW |
8 |
68,914,241 (GRCm39) |
start gained |
probably benign |
|
R9619:Csgalnact1
|
UTSW |
8 |
68,854,006 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Csgalnact1
|
UTSW |
8 |
68,853,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |