Incidental Mutation 'R0076:Galntl5'
ID |
63978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Galntl5
|
Ensembl Gene |
ENSMUSG00000028938 |
Gene Name |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 |
Synonyms |
1700021B12Rik |
MMRRC Submission |
038363-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0076 (G1)
|
Quality Score |
107 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
25386458-25425295 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 25391070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030778
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030778]
[ENSMUST00000114965]
|
AlphaFold |
Q9D4M9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030778
|
SMART Domains |
Protein: ENSMUSP00000030778 Gene: ENSMUSG00000028938
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
115 |
365 |
4.1e-10 |
PFAM |
Pfam:Glycos_transf_2
|
118 |
304 |
4.2e-30 |
PFAM |
Pfam:Glyco_tranf_2_2
|
118 |
383 |
1.7e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
277 |
349 |
2.2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114965
|
SMART Domains |
Protein: ENSMUSP00000110616 Gene: ENSMUSG00000028938
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:Glyco_tranf_2_3
|
82 |
332 |
1.8e-10 |
PFAM |
Pfam:Glycos_transf_2
|
85 |
271 |
3.3e-28 |
PFAM |
Pfam:Glyco_tranf_2_2
|
85 |
350 |
8.1e-8 |
PFAM |
Pfam:Glyco_transf_7C
|
244 |
316 |
2.4e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158217
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
PHENOTYPE: Male heterozygous mice for this allele were infertile due to decreased sperm motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
Other mutations in Galntl5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Galntl5
|
APN |
5 |
25,400,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01637:Galntl5
|
APN |
5 |
25,394,823 (GRCm39) |
splice site |
probably benign |
|
IGL02126:Galntl5
|
APN |
5 |
25,394,839 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02136:Galntl5
|
APN |
5 |
25,425,060 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02836:Galntl5
|
APN |
5 |
25,391,237 (GRCm39) |
missense |
probably benign |
|
R0411:Galntl5
|
UTSW |
5 |
25,425,172 (GRCm39) |
missense |
probably benign |
0.20 |
R1376:Galntl5
|
UTSW |
5 |
25,391,286 (GRCm39) |
missense |
probably benign |
0.16 |
R1376:Galntl5
|
UTSW |
5 |
25,391,286 (GRCm39) |
missense |
probably benign |
0.16 |
R1686:Galntl5
|
UTSW |
5 |
25,415,432 (GRCm39) |
missense |
probably benign |
0.16 |
R1724:Galntl5
|
UTSW |
5 |
25,425,120 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1899:Galntl5
|
UTSW |
5 |
25,403,530 (GRCm39) |
nonsense |
probably null |
|
R2213:Galntl5
|
UTSW |
5 |
25,422,527 (GRCm39) |
missense |
probably benign |
0.13 |
R2215:Galntl5
|
UTSW |
5 |
25,403,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R2425:Galntl5
|
UTSW |
5 |
25,425,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R3811:Galntl5
|
UTSW |
5 |
25,391,178 (GRCm39) |
missense |
probably benign |
0.19 |
R3812:Galntl5
|
UTSW |
5 |
25,391,178 (GRCm39) |
missense |
probably benign |
0.19 |
R4072:Galntl5
|
UTSW |
5 |
25,403,478 (GRCm39) |
nonsense |
probably null |
|
R4660:Galntl5
|
UTSW |
5 |
25,408,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Galntl5
|
UTSW |
5 |
25,403,461 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5844:Galntl5
|
UTSW |
5 |
25,391,091 (GRCm39) |
intron |
probably benign |
|
R6267:Galntl5
|
UTSW |
5 |
25,391,163 (GRCm39) |
missense |
probably benign |
|
R6296:Galntl5
|
UTSW |
5 |
25,391,163 (GRCm39) |
missense |
probably benign |
|
R6896:Galntl5
|
UTSW |
5 |
25,394,947 (GRCm39) |
critical splice donor site |
probably null |
|
R7138:Galntl5
|
UTSW |
5 |
25,394,842 (GRCm39) |
missense |
probably benign |
0.13 |
R7256:Galntl5
|
UTSW |
5 |
25,400,298 (GRCm39) |
missense |
probably benign |
0.00 |
R9044:Galntl5
|
UTSW |
5 |
25,415,326 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9147:Galntl5
|
UTSW |
5 |
25,415,353 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9148:Galntl5
|
UTSW |
5 |
25,415,353 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9488:Galntl5
|
UTSW |
5 |
25,415,437 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Galntl5
|
UTSW |
5 |
25,408,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCACAGACTCACTTGCGCTC -3'
(R):5'- CAGGTTCATCTGCATCCGACTTACC -3'
Sequencing Primer
(F):5'- GCAAGGACTTTAAATTATGCTGCC -3'
(R):5'- GCATCCGACTTACCATGAGTG -3'
|
Posted On |
2013-08-06 |