Incidental Mutation 'R1376:Galntl5'
| ID |
186250 |
| 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 |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25386458-25425295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25391286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 62
(V62F)
|
| 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: V62F
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: V62F
| 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
AA Change: V29F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: V29F
| 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: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
| Validation Efficiency |
100% (29/29) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GCTCAAGGGGTAAGGCAAGGACTTT -3'
(R):5'- ACTGAGTTCCGGGTATCATATGTCCAT -3'
Sequencing Primer
(F):5'- GCAAGGACTTTAAATTATGCTGCC -3'
(R):5'- CCGGGTATCATATGTCCATACATGAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation