Incidental Mutation 'R6674:Extl1'
| ID |
527211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl1
|
| Ensembl Gene |
ENSMUSG00000028838 |
| Gene Name |
exostosin-like glycosyltransferase 1 |
| Synonyms |
D430033M16Rik |
| MMRRC Submission |
044794-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R6674 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134085438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 560
(T560A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
[ENSMUST00000081094]
[ENSMUST00000105872]
[ENSMUST00000105874]
|
| AlphaFold |
Q9JKV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030643
AA Change: T560A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: T560A
| 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 |
probably benign
Transcript: ENSMUST00000081094
|
| SMART Domains |
Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105872
|
| SMART Domains |
Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105874
|
| SMART Domains |
Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
70 |
277 |
3.4e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142730
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
T |
C |
19: 45,963,437 (GRCm39) |
E92G |
probably benign |
Het |
| Cluh |
A |
G |
11: 74,557,053 (GRCm39) |
H1005R |
probably damaging |
Het |
| Coro2b |
C |
T |
9: 62,339,709 (GRCm39) |
R13H |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,232,344 (GRCm39) |
N698K |
probably benign |
Het |
| Dusp12 |
G |
A |
1: 170,707,317 (GRCm39) |
T257I |
probably benign |
Het |
| Esf1 |
T |
A |
2: 139,962,726 (GRCm39) |
K782* |
probably null |
Het |
| Gpr179 |
C |
A |
11: 97,238,231 (GRCm39) |
|
probably null |
Het |
| Krt90 |
G |
A |
15: 101,465,761 (GRCm39) |
L287F |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,571,277 (GRCm39) |
V77A |
probably benign |
Het |
| Nr4a2 |
C |
T |
2: 57,002,436 (GRCm39) |
A6T |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,289,801 (GRCm39) |
P533L |
probably damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,937,214 (GRCm39) |
G1132R |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,763,633 (GRCm39) |
I1209V |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,692,756 (GRCm39) |
Q696L |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,255,555 (GRCm39) |
S444R |
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,746,490 (GRCm39) |
F22L |
possibly damaging |
Het |
| Tomm20l |
A |
G |
12: 71,158,307 (GRCm39) |
D30G |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,745,264 (GRCm39) |
T827A |
probably benign |
Het |
| Unc50 |
T |
C |
1: 37,476,539 (GRCm39) |
V208A |
probably benign |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,638 (GRCm39) |
S179P |
probably damaging |
Het |
| Vmn1r225 |
A |
C |
17: 20,723,377 (GRCm39) |
I273L |
probably benign |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,023 (GRCm39) |
Q734* |
probably null |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,795 (GRCm39) |
I378V |
probably benign |
Het |
| Zfp507 |
C |
T |
7: 35,494,159 (GRCm39) |
V295I |
probably damaging |
Het |
| Zfp981 |
A |
G |
4: 146,619,950 (GRCm39) |
R35G |
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 |
|
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 |
|
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'- TTTGGATTAGAGAGTGAAGAGGCTC -3'
(R):5'- ACATGGAGAAGGGTCATGCC -3'
Sequencing Primer
(F):5'- CCATCAGGGCTTTCCAGC -3'
(R):5'- GGTCATGCCCAGGGTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation