Incidental Mutation 'R4605:Extl1'
| ID |
500695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl1
|
| Ensembl Gene |
ENSMUSG00000028838 |
| Gene Name |
exostosin-like glycosyltransferase 1 |
| Synonyms |
D430033M16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134087145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 471
(V471A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
|
| AlphaFold |
Q9JKV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030643
AA Change: V471A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: V471A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
87 |
329 |
2.1e-38 |
PFAM |
|
Pfam:Glyco_transf_64
|
412 |
652 |
1.7e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142730
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
| Other mutations in Extl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Extl1
|
APN |
4 |
134,085,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Extl1
|
APN |
4 |
134,086,514 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03040:Extl1
|
APN |
4 |
134,087,940 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Extl1
|
UTSW |
4 |
134,085,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0566:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0575:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0941:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0943:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0988:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0989:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0990:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1022:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1035:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1344:Extl1
|
UTSW |
4 |
134,086,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1495:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1699:Extl1
|
UTSW |
4 |
134,091,894 (GRCm39) |
nonsense |
probably null |
|
|
R1750:Extl1
|
UTSW |
4 |
134,089,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Extl1
|
UTSW |
4 |
134,098,449 (GRCm39) |
missense |
probably benign |
|
|
R1883:Extl1
|
UTSW |
4 |
134,091,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2143:Extl1
|
UTSW |
4 |
134,098,355 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2144:Extl1
|
UTSW |
4 |
134,098,355 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2155:Extl1
|
UTSW |
4 |
134,090,491 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4298:Extl1
|
UTSW |
4 |
134,084,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Extl1
|
UTSW |
4 |
134,098,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4606:Extl1
|
UTSW |
4 |
134,098,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4787:Extl1
|
UTSW |
4 |
134,091,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Extl1
|
UTSW |
4 |
134,087,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5776:Extl1
|
UTSW |
4 |
134,085,083 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6216:Extl1
|
UTSW |
4 |
134,090,441 (GRCm39) |
missense |
probably benign |
|
|
R6392:Extl1
|
UTSW |
4 |
134,091,945 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6674:Extl1
|
UTSW |
4 |
134,085,438 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7218:Extl1
|
UTSW |
4 |
134,087,080 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7779:Extl1
|
UTSW |
4 |
134,087,908 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7779:Extl1
|
UTSW |
4 |
134,085,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Extl1
|
UTSW |
4 |
134,091,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Extl1
|
UTSW |
4 |
134,098,929 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8472:Extl1
|
UTSW |
4 |
134,098,603 (GRCm39) |
missense |
probably benign |
|
|
R8977:Extl1
|
UTSW |
4 |
134,086,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9079:Extl1
|
UTSW |
4 |
134,089,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Extl1
|
UTSW |
4 |
134,085,332 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGCTATTACTTGACGTTTTAC -3'
(R):5'- TGGCCTTTAGAGCCAAAGGG -3'
Sequencing Primer
(F):5'- GACTTGGAGGGAACTTGCC -3'
(R):5'- GGAAACTATCACCTAGGCTTGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation