Incidental Mutation 'R6476:Csgalnact1'
ID |
516789 |
Institutional Source |
Beutler Lab
|
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 # |
R6476 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68913762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 148
(S148C)
|
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: S148C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077459 Gene: ENSMUSG00000036356 AA Change: S148C
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: S148C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119817 Gene: ENSMUSG00000036356 AA Change: S148C
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 |
noncoding transcript
Transcript: ENSMUST00000132076
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136060
AA Change: S148C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116134 Gene: ENSMUSG00000036356 AA Change: S148C
Domain | Start | End | E-Value | Type |
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
Pfam:CHGN
|
66 |
300 |
1.6e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211871
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,699 (GRCm39) |
V126A |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,259,691 (GRCm39) |
Q336R |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,578,753 (GRCm39) |
T6A |
probably benign |
Het |
Arhgap33 |
A |
G |
7: 30,223,837 (GRCm39) |
S731P |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,338,693 (GRCm39) |
P23R |
probably damaging |
Het |
Atf7 |
T |
C |
15: 102,502,147 (GRCm39) |
D3G |
probably benign |
Het |
Caps2 |
A |
G |
10: 112,011,465 (GRCm39) |
T30A |
possibly damaging |
Het |
Ccdc15 |
A |
T |
9: 37,253,715 (GRCm39) |
I191N |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,607,917 (GRCm39) |
S180T |
possibly damaging |
Het |
Chd1 |
G |
A |
17: 17,601,250 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,709,534 (GRCm39) |
N1887K |
unknown |
Het |
Dnah14 |
A |
G |
1: 181,572,333 (GRCm39) |
E2888G |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,281,364 (GRCm39) |
Y2808* |
probably null |
Het |
Dock10 |
A |
C |
1: 80,518,959 (GRCm39) |
L1254* |
probably null |
Het |
Eml2 |
T |
C |
7: 18,930,236 (GRCm39) |
V511A |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,741,971 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,977,755 (GRCm39) |
D601Y |
probably damaging |
Het |
Farsa |
A |
G |
8: 85,583,809 (GRCm39) |
E49G |
probably damaging |
Het |
Fzd7 |
A |
G |
1: 59,523,154 (GRCm39) |
M346V |
probably damaging |
Het |
Gatd3a |
T |
C |
10: 78,003,347 (GRCm39) |
N102D |
probably damaging |
Het |
Glg1 |
A |
C |
8: 111,926,806 (GRCm39) |
S170A |
possibly damaging |
Het |
Gpx3 |
A |
T |
11: 54,798,025 (GRCm39) |
I54F |
probably damaging |
Het |
H6pd |
G |
A |
4: 150,067,184 (GRCm39) |
H401Y |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,560,457 (GRCm39) |
S28P |
probably damaging |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Krt9 |
A |
T |
11: 100,081,640 (GRCm39) |
D296E |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,571,518 (GRCm39) |
T237I |
probably benign |
Het |
Lnx1 |
A |
G |
5: 74,768,541 (GRCm39) |
V349A |
possibly damaging |
Het |
Map3k6 |
A |
T |
4: 132,977,397 (GRCm39) |
S915C |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,034,717 (GRCm39) |
A510S |
possibly damaging |
Het |
Mettl14 |
A |
G |
3: 123,167,686 (GRCm39) |
I224T |
probably damaging |
Het |
Mme |
T |
C |
3: 63,251,056 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
A |
3: 55,912,227 (GRCm39) |
T1187S |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,138,154 (GRCm39) |
T444A |
possibly damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,657 (GRCm39) |
L200P |
possibly damaging |
Het |
Npc1 |
G |
T |
18: 12,334,751 (GRCm39) |
S667* |
probably null |
Het |
Nscme3l |
A |
C |
19: 5,553,253 (GRCm39) |
I176S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,218 (GRCm39) |
V212I |
probably benign |
Het |
Or1l8 |
T |
A |
2: 36,817,595 (GRCm39) |
H177L |
possibly damaging |
Het |
Or4c109 |
T |
A |
2: 88,817,721 (GRCm39) |
D275V |
probably benign |
Het |
Or51d1 |
T |
A |
7: 102,348,310 (GRCm39) |
N288K |
possibly damaging |
Het |
Or5g9 |
T |
A |
2: 85,551,928 (GRCm39) |
Y60N |
probably damaging |
Het |
Pds5a |
A |
C |
5: 65,791,630 (GRCm39) |
I773R |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,964,839 (GRCm39) |
|
probably null |
Het |
Plscr4 |
A |
T |
9: 92,372,819 (GRCm39) |
M314L |
probably benign |
Het |
Polr2m |
A |
G |
9: 71,390,752 (GRCm39) |
V46A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,424,923 (GRCm39) |
M174L |
possibly damaging |
Het |
Sec31a |
A |
T |
5: 100,534,008 (GRCm39) |
F521I |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,011,071 (GRCm39) |
N47S |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,989,971 (GRCm39) |
S312G |
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,448,750 (GRCm39) |
D431E |
probably benign |
Het |
Slc34a1 |
C |
A |
13: 23,996,569 (GRCm39) |
H25N |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 94,567,191 (GRCm39) |
F87L |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,065,456 (GRCm39) |
S54T |
possibly damaging |
Het |
Spata6 |
T |
C |
4: 111,632,020 (GRCm39) |
S144P |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,077,595 (GRCm39) |
N132D |
probably benign |
Het |
Ssu2 |
C |
T |
6: 112,351,793 (GRCm39) |
G311S |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,104,531 (GRCm39) |
Q6328L |
possibly damaging |
Het |
Tie1 |
T |
C |
4: 118,330,062 (GRCm39) |
T1054A |
possibly damaging |
Het |
Tnfaip6 |
T |
G |
2: 51,942,328 (GRCm39) |
D212E |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,909,166 (GRCm39) |
T1442A |
probably damaging |
Het |
Trim35 |
C |
T |
14: 66,546,244 (GRCm39) |
T337M |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,498,489 (GRCm39) |
V413A |
probably benign |
Het |
Vmn1r19 |
C |
G |
6: 57,381,578 (GRCm39) |
Q44E |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,246 (GRCm39) |
D61G |
probably benign |
Het |
Zfp266 |
G |
T |
9: 20,410,577 (GRCm39) |
H533Q |
probably damaging |
Het |
Zfp689 |
T |
C |
7: 127,043,896 (GRCm39) |
S245G |
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 |
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 |
68,913,761 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGCCAACCTTCTATGAAGTCTG -3'
(R):5'- CTAAAGGATGAACTGCAGGCAC -3'
Sequencing Primer
(F):5'- AACCTTCTATGAAGTCTGCAGCTG -3'
(R):5'- ACGCAGTGAGCAGTTCC -3'
|
Posted On |
2018-05-21 |