Incidental Mutation 'R0173:Csgalnact1'
| ID |
23717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csgalnact1
|
| Ensembl Gene |
ENSMUSG00000036356 |
| Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Synonyms |
CSGalNAcT-1, 4732435N03Rik |
| MMRRC Submission |
038445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68913681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 175
(R175C)
|
| 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: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
AA Change: R175C
| 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: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
AA Change: R175C
| 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: R175C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
AA Change: R175C
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.1%
|
| Validation Efficiency |
96% (64/67) |
| 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 |
|---|
| A330008L17Rik |
G |
A |
8: 100,148,286 (GRCm39) |
|
noncoding transcript |
Het |
| Akt1s1 |
C |
T |
7: 44,502,284 (GRCm39) |
P95S |
possibly damaging |
Het |
| Ambra1 |
T |
C |
2: 91,640,564 (GRCm39) |
|
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,861 (GRCm39) |
W269R |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,136,125 (GRCm39) |
M69V |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,783,314 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,965,744 (GRCm39) |
M2074T |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,351,928 (GRCm39) |
P1592S |
probably damaging |
Het |
| Dtx1 |
A |
G |
5: 120,820,818 (GRCm39) |
|
probably benign |
Het |
| Elmod3 |
T |
C |
6: 72,554,571 (GRCm39) |
D154G |
probably damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,789 (GRCm39) |
D103G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,765,710 (GRCm39) |
D377G |
probably damaging |
Het |
| Gramd1c |
C |
T |
16: 43,818,196 (GRCm39) |
R328K |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,074,806 (GRCm39) |
S312P |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,328,343 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
C |
3: 40,629,776 (GRCm39) |
|
probably null |
Het |
| Lnpk |
T |
C |
2: 74,381,409 (GRCm39) |
K118R |
probably damaging |
Het |
| Lzts3 |
A |
C |
2: 130,476,688 (GRCm39) |
*587G |
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,896,855 (GRCm39) |
|
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp23 |
G |
T |
4: 155,735,222 (GRCm39) |
R374S |
possibly damaging |
Het |
| Morc3 |
G |
A |
16: 93,629,094 (GRCm39) |
|
probably null |
Het |
| Mymk |
C |
T |
2: 26,952,262 (GRCm39) |
A161T |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,133,859 (GRCm39) |
S3375G |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,745 (GRCm39) |
D255G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,852,400 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
| Nus1 |
A |
G |
10: 52,294,094 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or5b118 |
A |
T |
19: 13,449,065 (GRCm39) |
I244F |
probably benign |
Het |
| Or7g17 |
A |
G |
9: 18,768,325 (GRCm39) |
I135V |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,785,542 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
T |
A |
17: 15,764,275 (GRCm39) |
D835V |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,764,297 (GRCm39) |
W828R |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,582,969 (GRCm39) |
S244P |
probably benign |
Het |
| Psmd4 |
A |
T |
3: 94,940,234 (GRCm39) |
L159H |
probably damaging |
Het |
| Qprt |
C |
T |
7: 126,707,543 (GRCm39) |
G215E |
probably damaging |
Het |
| Rab3gap2 |
C |
A |
1: 184,982,104 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,652,411 (GRCm39) |
D300G |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,001,605 (GRCm39) |
N894K |
probably benign |
Het |
| Rgma |
C |
T |
7: 73,067,302 (GRCm39) |
R280W |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rundc3a |
T |
A |
11: 102,289,071 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,318,075 (GRCm39) |
D496E |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,363,437 (GRCm39) |
Y936C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,159,564 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,194,705 (GRCm39) |
D154N |
probably benign |
Het |
| Slc48a1 |
A |
T |
15: 97,688,555 (GRCm39) |
H131L |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,048,848 (GRCm39) |
N311D |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Srrm2 |
C |
A |
17: 24,034,103 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
A |
T |
4: 33,226,117 (GRCm39) |
S122C |
probably damaging |
Het |
| Suclg2 |
G |
C |
6: 95,452,154 (GRCm39) |
|
probably benign |
Het |
| Tbpl1 |
A |
T |
10: 22,583,523 (GRCm39) |
L149* |
probably null |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,782,363 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,847 (GRCm39) |
R645* |
probably null |
Het |
| Ubqln4 |
T |
A |
3: 88,462,686 (GRCm39) |
D50E |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,919 (GRCm39) |
S1227P |
probably damaging |
Het |
| Vipas39 |
A |
G |
12: 87,297,285 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps26b |
G |
A |
9: 26,924,101 (GRCm39) |
T214I |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,717 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACATGCTCAGGCTCTGGGATAC -3'
(R):5'- AAAGATGGCTACCAAGCGGTGC -3'
Sequencing Primer
(F):5'- CTCAGGCTCTGGGATACTTTAG -3'
(R):5'- CAGCATCGTAACTATGTGAATAGCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation