Incidental Mutation 'R9079:Extl1'
| ID |
689891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl1
|
| Ensembl Gene |
ENSMUSG00000028838 |
| Gene Name |
exostosin-like glycosyltransferase 1 |
| Synonyms |
D430033M16Rik |
| MMRRC Submission |
068899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R9079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134089975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 378
(N378Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
|
| AlphaFold |
Q9JKV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030643
AA Change: N378Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: N378Y
| 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 |
|
| Meta Mutation Damage Score |
0.7562 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (51/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
A |
T |
15: 57,989,223 (GRCm39) |
S212R |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,112,816 (GRCm39) |
V1213E |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,598,153 (GRCm39) |
D531G |
probably damaging |
Het |
| Cd1d1 |
T |
A |
3: 86,906,197 (GRCm39) |
Y26F |
probably benign |
Het |
| Cep83 |
T |
C |
10: 94,564,541 (GRCm39) |
F160S |
possibly damaging |
Het |
| Cfap61 |
G |
T |
2: 145,781,859 (GRCm39) |
V31F |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,291,914 (GRCm39) |
S3304P |
probably benign |
Het |
| Eif4b |
T |
A |
15: 102,003,177 (GRCm39) |
D549E |
unknown |
Het |
| Fbxo4 |
C |
T |
15: 3,998,388 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
C |
A |
3: 85,579,590 (GRCm39) |
G872* |
probably null |
Het |
| G430095P16Rik |
A |
T |
8: 85,453,412 (GRCm39) |
H133L |
unknown |
Het |
| Gm8138 |
A |
T |
14: 43,272,502 (GRCm39) |
N104K |
|
Het |
| Gzma |
A |
G |
13: 113,232,858 (GRCm39) |
F78S |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,923,190 (GRCm39) |
S400P |
possibly damaging |
Het |
| Hnrnpm |
G |
T |
17: 33,868,775 (GRCm39) |
R551S |
probably damaging |
Het |
| Htr5b |
T |
A |
1: 121,455,816 (GRCm39) |
T35S |
probably benign |
Het |
| Jak3 |
A |
C |
8: 72,131,898 (GRCm39) |
E158A |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
C |
A |
4: 74,277,738 (GRCm39) |
D797E |
probably benign |
Het |
| Klhl31 |
T |
A |
9: 77,558,151 (GRCm39) |
V289E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,593 (GRCm39) |
S1398P |
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,235,473 (GRCm39) |
|
probably benign |
Het |
| Mrps28 |
A |
G |
3: 8,867,308 (GRCm39) |
*187Q |
probably null |
Het |
| Myh7b |
G |
A |
2: 155,465,174 (GRCm39) |
V677I |
probably damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,383,033 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
A |
7: 44,199,430 (GRCm39) |
E440D |
possibly damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,989 (GRCm39) |
V255A |
probably damaging |
Het |
| Or6c207 |
A |
T |
10: 129,104,466 (GRCm39) |
M242K |
possibly damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,731 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,750,769 (GRCm39) |
I13N |
probably benign |
Het |
| Osbpl9 |
A |
T |
4: 108,920,644 (GRCm39) |
V543D |
possibly damaging |
Het |
| Pcgf6 |
T |
C |
19: 47,039,053 (GRCm39) |
E69G |
possibly damaging |
Het |
| Piezo2 |
A |
G |
18: 63,157,537 (GRCm39) |
L2391P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,393 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,915,637 (GRCm39) |
R1069H |
probably benign |
Het |
| Ro60 |
A |
C |
1: 143,641,519 (GRCm39) |
L314R |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
A |
T |
16: 31,787,718 (GRCm39) |
I635N |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,484,241 (GRCm39) |
K126M |
possibly damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,042,150 (GRCm39) |
R476S |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,677,454 (GRCm39) |
R127S |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,056,308 (GRCm39) |
S394P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,950,966 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Trio |
T |
C |
15: 27,733,023 (GRCm39) |
I2953V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,632,734 (GRCm39) |
F14107L |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,895,120 (GRCm39) |
|
probably benign |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,979 (GRCm39) |
L290F |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,602 (GRCm39) |
M272V |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,640 (GRCm39) |
N343Y |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,076,403 (GRCm39) |
W45R |
|
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 |
|
R4605:Extl1
|
UTSW |
4 |
134,087,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
X0020:Extl1
|
UTSW |
4 |
134,085,332 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGGATAGCGACCTTTGCTG -3'
(R):5'- TAGTAGTCATCTCCGCCCAC -3'
Sequencing Primer
(F):5'- ATAGCGACCTTTGCTGGGGAAC -3'
(R):5'- GCCCACATCCTTCTCTTTAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation