Incidental Mutation 'R3196:Csgalnact1'
| ID |
267648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csgalnact1
|
| Ensembl Gene |
ENSMUSG00000036356 |
| Gene Name |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
| Synonyms |
CSGalNAcT-1, 4732435N03Rik |
| MMRRC Submission |
040617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3196 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
68809433-69187798 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TGG to TG
at 68913737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078350]
[ENSMUST00000130214]
[ENSMUST00000136060]
|
| AlphaFold |
Q8BJQ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078350
|
| SMART Domains |
Protein: ENSMUSP00000077459
Gene: ENSMUSG00000036356
| 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 null
Transcript: ENSMUST00000130214
|
| SMART Domains |
Protein: ENSMUSP00000119817
Gene: ENSMUSG00000036356
| 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 null
Transcript: ENSMUST00000136060
|
| SMART Domains |
Protein: ENSMUSP00000116134
Gene: ENSMUSG00000036356
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
| Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
| Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,373,933 (GRCm39) |
I858V |
probably damaging |
Het |
| Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
| Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
| Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
| Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,663 (GRCm39) |
N219S |
probably benign |
Het |
| Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
| Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
| Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,477,174 (GRCm39) |
|
probably null |
Het |
| Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
| Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
| Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
| Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,937,125 (GRCm39) |
D483E |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
| Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
| Wac |
T |
A |
18: 7,917,568 (GRCm39) |
V346E |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
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 |
|
|
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'- CATGCCAACCTTCTATGAAGTC -3'
(R):5'- CTAAAGGATGAACTGCAGGCAC -3'
Sequencing Primer
(F):5'- AACCTTCTATGAAGTCTGCAGCTG -3'
(R):5'- AGTGAGCAGTTCCGCAGTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation