Incidental Mutation 'R2425:Galntl5'
| ID |
250143 |
| 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 |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
25386458-25425295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25425079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 366
(K366E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030778]
[ENSMUST00000045737]
[ENSMUST00000066954]
[ENSMUST00000114965]
|
| AlphaFold |
Q9D4M9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030778
AA Change: K399E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030778
Gene: ENSMUSG00000028938
AA Change: K399E
| 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 damaging
Transcript: ENSMUST00000114965
AA Change: K366E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110616
Gene: ENSMUSG00000028938
AA Change: K366E
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
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 |
|
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 |
|
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'- TCAAGCTTTCCTAGAAGATGGAAG -3'
(R):5'- ATGCTCCAGATTTGTCCTGTG -3'
Sequencing Primer
(F):5'- ACAAGAGGAAAGAGCAATTTTATTCC -3'
(R):5'- CCAGATTTGTCCTGTGGTGCG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation