Incidental Mutation 'IGL02136:Galntl5'
| ID |
281345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galntl5
|
| Ensembl Gene |
ENSMUSG00000028938 |
| Gene Name |
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 |
| Synonyms |
1700021B12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
25386458-25425295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25425060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 392
(S392R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030778]
[ENSMUST00000045737]
[ENSMUST00000066954]
[ENSMUST00000114965]
|
| AlphaFold |
Q9D4M9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030778
AA Change: S392R
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: S392R
| 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: ENSMUST00000045737
|
| SMART Domains |
Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
151 |
386 |
5.3e-9 |
PFAM |
|
Pfam:Glycos_transf_2
|
154 |
337 |
3.7e-33 |
PFAM |
|
Pfam:Glyco_transf_7C
|
315 |
383 |
2.1e-9 |
PFAM |
|
RICIN
|
476 |
607 |
7.09e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066954
|
| SMART Domains |
Protein: ENSMUSP00000068775
Gene: ENSMUSG00000054116
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114965
AA Change: S359R
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: S359R
| 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: ENSMUST00000196213
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,286,301 (GRCm39) |
T2511K |
probably damaging |
Het |
| Acta2 |
T |
A |
19: 34,229,230 (GRCm39) |
D53V |
probably damaging |
Het |
| Banf1 |
G |
A |
19: 5,415,098 (GRCm39) |
A71V |
probably benign |
Het |
| Cacng5 |
A |
T |
11: 107,772,557 (GRCm39) |
I97N |
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,315,415 (GRCm39) |
E69V |
probably damaging |
Het |
| Cracr2a |
T |
C |
6: 127,606,893 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,085,149 (GRCm39) |
R845G |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,747,945 (GRCm39) |
N949S |
possibly damaging |
Het |
| Eprs1 |
T |
G |
1: 185,117,180 (GRCm39) |
W408G |
probably damaging |
Het |
| Fgf14 |
G |
A |
14: 124,217,784 (GRCm39) |
P240S |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,798,989 (GRCm39) |
A2E |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,988,873 (GRCm39) |
*221Q |
probably null |
Het |
| Gcsam |
T |
A |
16: 45,430,896 (GRCm39) |
M1K |
probably null |
Het |
| Ksr2 |
A |
G |
5: 117,754,959 (GRCm39) |
N351S |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,693 (GRCm39) |
V503A |
probably damaging |
Het |
| Myl12a |
T |
A |
17: 71,303,851 (GRCm39) |
K9* |
probably null |
Het |
| Ncapg2 |
A |
T |
12: 116,424,203 (GRCm39) |
M1129L |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,855,708 (GRCm39) |
S10P |
possibly damaging |
Het |
| Or8k41 |
T |
C |
2: 86,313,809 (GRCm39) |
I92M |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,531,336 (GRCm39) |
K1691E |
possibly damaging |
Het |
| Pdk4 |
A |
T |
6: 5,486,715 (GRCm39) |
M353K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,345,839 (GRCm39) |
W2730R |
probably damaging |
Het |
| Pkn2 |
T |
A |
3: 142,559,351 (GRCm39) |
K58I |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,001 (GRCm39) |
|
probably null |
Het |
| Prkcq |
T |
C |
2: 11,265,479 (GRCm39) |
F399L |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 22,972,821 (GRCm39) |
V244M |
probably damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,868,659 (GRCm39) |
F361L |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,064,252 (GRCm39) |
L1168I |
possibly damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,075 (GRCm39) |
H107R |
probably benign |
Het |
| Serpinb3a |
T |
A |
1: 106,974,015 (GRCm39) |
M299L |
probably benign |
Het |
| Slfn8 |
G |
A |
11: 82,894,291 (GRCm39) |
Q783* |
probably null |
Het |
| Smc3 |
T |
C |
19: 53,624,147 (GRCm39) |
I721T |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,407,103 (GRCm38) |
|
probably benign |
Het |
| Uvssa |
T |
A |
5: 33,549,192 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r107 |
G |
T |
17: 20,595,168 (GRCm39) |
V574L |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation