Incidental Mutation 'R1655:Csgalnact1'
| ID |
189033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csgalnact1
|
| Ensembl Gene |
ENSMUSG00000036356 |
| Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Synonyms |
CSGalNAcT-1, 4732435N03Rik |
| MMRRC Submission |
039691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68826341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 326
(I326F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078350]
[ENSMUST00000130214]
|
| AlphaFold |
Q8BJQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078350
AA Change: I326F
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: I326F
| 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 |
possibly damaging
Transcript: ENSMUST00000130214
AA Change: I326F
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: I326F
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
T |
14: 55,797,790 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm39) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,645,028 (GRCm39) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,231 (GRCm39) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,222,436 (GRCm39) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,379,792 (GRCm39) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,414,386 (GRCm39) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,248,524 (GRCm39) |
M313K |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,080,543 (GRCm39) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 182,868,568 (GRCm39) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,364,680 (GRCm39) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,182,715 (GRCm39) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,321,657 (GRCm39) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,700,357 (GRCm39) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,752,786 (GRCm39) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 57,942,596 (GRCm39) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,011,467 (GRCm39) |
V2189A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,846,535 (GRCm39) |
N1076Y |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,214 (GRCm39) |
I934T |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,229,558 (GRCm39) |
Q472L |
possibly damaging |
Het |
| Gimap5 |
G |
T |
6: 48,730,110 (GRCm39) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,651,892 (GRCm39) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,601,881 (GRCm39) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,940 (GRCm39) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,084 (GRCm39) |
V3814A |
probably benign |
Het |
| Hoatz |
A |
T |
9: 50,994,921 (GRCm39) |
I136N |
probably damaging |
Het |
| Ifna7 |
A |
G |
4: 88,734,897 (GRCm39) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,714,335 (GRCm39) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,277,646 (GRCm39) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,174 (GRCm39) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,905 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 74,980,412 (GRCm39) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,008,201 (GRCm39) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 146,961,726 (GRCm39) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,461,940 (GRCm39) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,574,241 (GRCm39) |
|
probably null |
Het |
| Nlrp4a |
A |
T |
7: 26,149,076 (GRCm39) |
I228F |
possibly damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,196 (GRCm39) |
S157G |
probably benign |
Het |
| Or5c1 |
A |
G |
2: 37,221,951 (GRCm39) |
Y64C |
probably damaging |
Het |
| Or5p59 |
A |
T |
7: 107,702,671 (GRCm39) |
I52F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,424 (GRCm39) |
V297A |
possibly damaging |
Het |
| Paxx |
T |
C |
2: 25,350,328 (GRCm39) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,376,490 (GRCm39) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,223,561 (GRCm39) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,654,353 (GRCm39) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,483,788 (GRCm39) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,952,798 (GRCm39) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,172,296 (GRCm39) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,531,347 (GRCm39) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,142,487 (GRCm39) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,440,808 (GRCm39) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,801,693 (GRCm39) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,077,926 (GRCm39) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,231 (GRCm39) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 38,970,129 (GRCm39) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,973,942 (GRCm39) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,148,204 (GRCm39) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,703,311 (GRCm39) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,761 (GRCm39) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 15,875,060 (GRCm39) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,029,449 (GRCm39) |
I103V |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,831,648 (GRCm39) |
Y346* |
probably null |
Het |
| Tg |
T |
G |
15: 66,700,417 (GRCm39) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,545,616 (GRCm39) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,745,076 (GRCm39) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,711,915 (GRCm39) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,325,051 (GRCm39) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,396,240 (GRCm39) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,836 (GRCm39) |
V709A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAAGTGACTCTCAGTCCTGAGC -3'
(R):5'- ACCCTGGTGGTGTCTATTCAGTCTG -3'
Sequencing Primer
(F):5'- ACATCAGAGTGGACTGTACAC -3'
(R):5'- GGTGTCTATTCAGTCTGGCTACTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation