Incidental Mutation 'IGL02437:Csgalnact1'
ID |
293334 |
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 # |
IGL02437
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abca16 |
T |
G |
7: 120,132,952 (GRCm39) |
C1294G |
probably benign |
Het |
Abca7 |
T |
A |
10: 79,844,223 (GRCm39) |
S1410T |
probably damaging |
Het |
Abhd12 |
T |
C |
2: 150,676,289 (GRCm39) |
D356G |
probably benign |
Het |
BC004004 |
T |
C |
17: 29,517,671 (GRCm39) |
L295P |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,824,595 (GRCm39) |
S215G |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,965,521 (GRCm39) |
M1109I |
probably benign |
Het |
Brat1 |
C |
T |
5: 140,698,563 (GRCm39) |
A245V |
possibly damaging |
Het |
Cask |
G |
A |
X: 13,403,860 (GRCm39) |
T16I |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,789,342 (GRCm39) |
|
probably null |
Het |
Cibar2 |
T |
C |
8: 120,901,525 (GRCm39) |
E60G |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,327,817 (GRCm39) |
I541F |
probably damaging |
Het |
Clnk |
C |
T |
5: 38,931,909 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
T |
A |
11: 101,077,677 (GRCm39) |
I1113N |
probably damaging |
Het |
Cyp26a1 |
T |
C |
19: 37,686,943 (GRCm39) |
S132P |
probably benign |
Het |
Cyp4f13 |
G |
T |
17: 33,149,582 (GRCm39) |
H85N |
probably benign |
Het |
Dcaf15 |
C |
T |
8: 84,828,445 (GRCm39) |
G215D |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,134,101 (GRCm39) |
T500A |
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,231,546 (GRCm39) |
|
probably benign |
Het |
Gli2 |
T |
A |
1: 118,763,733 (GRCm39) |
I1473F |
probably damaging |
Het |
Gm5129 |
A |
T |
5: 29,940,861 (GRCm39) |
|
probably benign |
Het |
Hdgf |
C |
T |
3: 87,821,792 (GRCm39) |
R168C |
probably damaging |
Het |
Heph |
A |
G |
X: 95,516,633 (GRCm39) |
T342A |
probably benign |
Het |
Kdelr3 |
T |
C |
15: 79,409,988 (GRCm39) |
Y158H |
probably damaging |
Het |
Lamb3 |
C |
T |
1: 193,010,253 (GRCm39) |
R289C |
probably damaging |
Het |
Leng8 |
C |
T |
7: 4,145,092 (GRCm39) |
A164V |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,194,889 (GRCm39) |
T1337A |
probably benign |
Het |
Mast3 |
C |
A |
8: 71,233,202 (GRCm39) |
R316L |
possibly damaging |
Het |
Nampt |
A |
G |
12: 32,880,215 (GRCm39) |
Y36C |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,975,264 (GRCm39) |
|
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,558 (GRCm39) |
D354G |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,461,254 (GRCm39) |
R2494W |
probably damaging |
Het |
Nt5c1a |
A |
G |
4: 123,108,034 (GRCm39) |
N239S |
probably benign |
Het |
Ogfr |
A |
G |
2: 180,231,329 (GRCm39) |
E19G |
possibly damaging |
Het |
Or11h4b |
A |
T |
14: 50,918,657 (GRCm39) |
S145T |
probably benign |
Het |
Or4c58 |
A |
G |
2: 89,675,128 (GRCm39) |
L63P |
probably damaging |
Het |
Pcna |
A |
T |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
Pdia3 |
T |
A |
2: 121,264,129 (GRCm39) |
V326E |
probably damaging |
Het |
Phf8 |
T |
A |
X: 150,414,356 (GRCm39) |
L1002Q |
possibly damaging |
Het |
Rhobtb2 |
T |
C |
14: 70,033,365 (GRCm39) |
E535G |
probably damaging |
Het |
Rusc2 |
G |
T |
4: 43,415,545 (GRCm39) |
D284Y |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,491 (GRCm39) |
Y212C |
probably benign |
Het |
Sash3 |
C |
A |
X: 47,247,672 (GRCm39) |
Q169K |
probably benign |
Het |
Scyl1 |
C |
T |
19: 5,816,224 (GRCm39) |
G324S |
probably damaging |
Het |
Sec62 |
G |
A |
3: 30,872,996 (GRCm39) |
G360R |
unknown |
Het |
Sis |
T |
C |
3: 72,826,947 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,285,578 (GRCm39) |
I338N |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,058,030 (GRCm39) |
D264G |
probably damaging |
Het |
Tgm3 |
G |
T |
2: 129,871,961 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
T |
G |
15: 80,764,658 (GRCm39) |
L720R |
probably damaging |
Het |
Tspyl4 |
A |
T |
10: 34,174,228 (GRCm39) |
Q240L |
probably damaging |
Het |
Tube1 |
G |
A |
10: 39,016,846 (GRCm39) |
V80I |
probably damaging |
Het |
Uap1l1 |
C |
T |
2: 25,253,945 (GRCm39) |
V304M |
probably damaging |
Het |
Wtap |
T |
C |
17: 13,186,620 (GRCm39) |
N309S |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,315,621 (GRCm39) |
D1285G |
probably benign |
Het |
Zscan20 |
G |
A |
4: 128,482,210 (GRCm39) |
T484I |
probably damaging |
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 |
IGL02215: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 |
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 |