Incidental Mutation 'R3812:Galntl5'
| ID |
274100 |
| 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 |
040768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3812 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25386458-25425295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25391178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 26
(F26L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030778]
[ENSMUST00000114965]
|
| AlphaFold |
Q9D4M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030778
AA Change: F26L
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: F26L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (28/28) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,407,469 (GRCm39) |
M1082V |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,706 (GRCm39) |
S137P |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,905,151 (GRCm39) |
I45V |
probably benign |
Het |
| Fbxw28 |
C |
A |
9: 109,167,598 (GRCm39) |
C53F |
possibly damaging |
Het |
| Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
| Lcmt2 |
G |
A |
2: 120,969,187 (GRCm39) |
A632V |
probably benign |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,543,284 (GRCm39) |
N180S |
possibly damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,149,118 (GRCm39) |
W242R |
probably benign |
Het |
| Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
| Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,735,332 (GRCm39) |
Y151H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Polm |
A |
G |
11: 5,779,512 (GRCm39) |
F429L |
possibly damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,216,067 (GRCm39) |
T105A |
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,675,000 (GRCm39) |
C449S |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,517 (GRCm39) |
F2820Y |
possibly damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,717 (GRCm39) |
S40P |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,810,326 (GRCm39) |
L906Q |
probably damaging |
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 |
|
|
R0076:Galntl5
|
UTSW |
5 |
25,391,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- GGATGTTGATCCTATACATGTGTGAAG -3'
(R):5'- GAAACATCACAATTTGTCCCTGG -3'
Sequencing Primer
(F):5'- CATGTGTGAAGAATTTTCGTGATAG -3'
(R):5'- CCCTGGATATAATTCAGATTTCCCAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation