Incidental Mutation 'R6143:Csgalnact1'
| ID |
488679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csgalnact1
|
| Ensembl Gene |
ENSMUSG00000036356 |
| Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Synonyms |
CSGalNAcT-1, 4732435N03Rik |
| MMRRC Submission |
044290-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68826202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 372
(N372I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078350]
[ENSMUST00000130214]
|
| AlphaFold |
Q8BJQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078350
AA Change: N372I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: N372I
| 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 |
noncoding transcript
Transcript: ENSMUST00000124929
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130214
AA Change: N372I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: N372I
| 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: ENSMUST00000139265
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
| Abcd2 |
A |
T |
15: 91,075,150 (GRCm39) |
V221E |
possibly damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
| Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
| Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
| Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
| Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
| Cep162 |
C |
A |
9: 87,094,904 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
| Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
| Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
| Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
| Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,291,872 (GRCm39) |
H214Y |
probably damaging |
Het |
| Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
| Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
| Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
| Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
| Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
| Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
| Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
| Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
| Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
| Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,447 (GRCm39) |
R648W |
probably damaging |
Het |
| Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
| Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
| Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
| Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
| Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
| Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Vmn2r118 |
G |
T |
17: 55,899,871 (GRCm39) |
L678I |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACAAGACAGAGTTCCAG -3'
(R):5'- CTCCTAGAGCTGCCAATTTCAG -3'
Sequencing Primer
(F):5'- ACAGAGTTCCAGAGTTAGTGTGCC -3'
(R):5'- GAGCTGCCAATTTCAGAAACTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation