Incidental Mutation 'IGL02207:Csgalnact1'
| ID |
284551 |
| 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: 0.069)
|
| Stock # |
IGL02207
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,992,993 (GRCm39) |
E702G |
probably damaging |
Het |
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Agap3 |
A |
T |
5: 24,704,934 (GRCm39) |
T660S |
probably benign |
Het |
| Amotl2 |
A |
T |
9: 102,601,896 (GRCm39) |
E380V |
probably damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,853,736 (GRCm39) |
E58G |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,120,906 (GRCm39) |
A713V |
probably benign |
Het |
| B4galt2 |
T |
C |
4: 117,738,718 (GRCm39) |
D33G |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,658,639 (GRCm39) |
S212T |
probably benign |
Het |
| Ccl26 |
A |
G |
5: 135,592,224 (GRCm39) |
Y38H |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,202,261 (GRCm39) |
S339C |
probably benign |
Het |
| Cd55 |
A |
G |
1: 130,380,156 (GRCm39) |
V274A |
possibly damaging |
Het |
| Cenpw |
T |
G |
10: 30,074,577 (GRCm39) |
|
probably null |
Het |
| Cert1 |
T |
C |
13: 96,761,300 (GRCm39) |
|
probably null |
Het |
| Chrnb4 |
T |
C |
9: 54,942,500 (GRCm39) |
D258G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,819 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
C |
A |
7: 26,381,180 (GRCm39) |
R59L |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,446,343 (GRCm39) |
T194K |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,684,111 (GRCm39) |
I733V |
possibly damaging |
Het |
| Elmod2 |
T |
C |
8: 84,048,135 (GRCm39) |
Y109C |
probably benign |
Het |
| Eps15 |
C |
T |
4: 109,161,945 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,412 (GRCm39) |
V1937A |
probably benign |
Het |
| Fdx2 |
T |
A |
9: 20,979,415 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
T |
3: 93,127,435 (GRCm39) |
I2116F |
unknown |
Het |
| Gm15091 |
A |
G |
X: 148,760,462 (GRCm39) |
D424G |
possibly damaging |
Het |
| Gm16380 |
T |
A |
9: 53,791,823 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,311,947 (GRCm39) |
V60M |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,911,214 (GRCm39) |
R1044K |
probably damaging |
Het |
| H2-D1 |
T |
A |
17: 35,482,390 (GRCm39) |
S37T |
possibly damaging |
Het |
| Havcr1 |
C |
T |
11: 46,669,403 (GRCm39) |
A294V |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,135,023 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,274,572 (GRCm39) |
Y748C |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,627,326 (GRCm39) |
T242A |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,536 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
T |
2: 109,127,052 (GRCm39) |
I329L |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,758,979 (GRCm39) |
I957F |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,757,051 (GRCm39) |
I282T |
possibly damaging |
Het |
| Lamb1 |
T |
G |
12: 31,379,434 (GRCm39) |
V1768G |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,350,257 (GRCm39) |
L939* |
probably null |
Het |
| Nfe2l2 |
A |
G |
2: 75,508,869 (GRCm39) |
L122P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,103,431 (GRCm39) |
M270V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,097,190 (GRCm39) |
Y870C |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,287,927 (GRCm39) |
M71V |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,583 (GRCm39) |
H201R |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,510 (GRCm39) |
I212M |
probably benign |
Het |
| Or11g2 |
G |
A |
14: 50,856,015 (GRCm39) |
G112D |
probably damaging |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,876,628 (GRCm39) |
T99A |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,741 (GRCm39) |
M536K |
probably benign |
Het |
| Pdyn |
A |
T |
2: 129,530,438 (GRCm39) |
L77H |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,290,837 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,229,091 (GRCm39) |
E1105G |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,443,525 (GRCm39) |
D743E |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,444,712 (GRCm39) |
V188I |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,204,028 (GRCm39) |
V72A |
possibly damaging |
Het |
| Shld1 |
A |
T |
2: 132,533,866 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
G |
A |
17: 43,972,575 (GRCm39) |
R104W |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,704,640 (GRCm39) |
D394G |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,936,158 (GRCm39) |
I309N |
possibly damaging |
Het |
| Snx29 |
T |
G |
16: 11,556,216 (GRCm39) |
M407R |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,662,363 (GRCm39) |
|
probably null |
Het |
| Syn1 |
T |
C |
X: 20,731,376 (GRCm39) |
Q321R |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,905,091 (GRCm39) |
D602V |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,523,323 (GRCm39) |
I1585F |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,410,785 (GRCm39) |
|
probably benign |
Het |
| Trav6-2 |
G |
A |
14: 52,904,889 (GRCm39) |
V8M |
possibly damaging |
Het |
| Unc119b |
A |
G |
5: 115,272,813 (GRCm39) |
S53P |
probably benign |
Het |
| Vmp1 |
T |
A |
11: 86,498,019 (GRCm39) |
I299F |
possibly damaging |
Het |
| Xpot |
T |
C |
10: 121,449,485 (GRCm39) |
Y194C |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,345,525 (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 |
|
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 |
|
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 |
Incidental Mutation