Incidental Mutation 'R7800:Extl1'
| ID |
600467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl1
|
| Ensembl Gene |
ENSMUSG00000028838 |
| Gene Name |
exostosin-like glycosyltransferase 1 |
| Synonyms |
D430033M16Rik |
| MMRRC Submission |
045855-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R7800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 134098929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 34
(G34D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
|
| AlphaFold |
Q9JKV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030643
AA Change: G34D
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: G34D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,078,698 (GRCm39) |
D1264G |
probably benign |
Het |
| Ace |
T |
C |
11: 105,876,884 (GRCm39) |
F1122S |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,990,283 (GRCm39) |
Y112D |
probably benign |
Het |
| Cacnb1 |
T |
G |
11: 97,900,121 (GRCm39) |
I346L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,209,639 (GRCm39) |
T607A |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,175 (GRCm39) |
F32S |
probably damaging |
Het |
| Cers5 |
G |
T |
15: 99,634,122 (GRCm39) |
H409N |
probably benign |
Het |
| Ces1h |
A |
T |
8: 94,106,322 (GRCm39) |
L11H |
|
Het |
| Clcnkb |
T |
C |
4: 141,141,833 (GRCm39) |
Y51C |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,866,420 (GRCm39) |
E856G |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,491,690 (GRCm39) |
V378A |
probably benign |
Het |
| Crisp4 |
A |
C |
1: 18,198,973 (GRCm39) |
S154A |
probably benign |
Het |
| Disp1 |
C |
T |
1: 182,880,550 (GRCm39) |
R241Q |
probably benign |
Het |
| Ermard |
G |
A |
17: 15,277,065 (GRCm39) |
R429H |
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,291,863 (GRCm39) |
D707G |
probably benign |
Het |
| H1f3 |
C |
A |
13: 23,739,541 (GRCm39) |
T93N |
possibly damaging |
Het |
| Igkv5-37 |
A |
C |
6: 69,940,499 (GRCm39) |
S48R |
possibly damaging |
Het |
| Ilvbl |
C |
T |
10: 78,419,809 (GRCm39) |
A571V |
possibly damaging |
Het |
| Itgb1 |
A |
G |
8: 129,439,718 (GRCm39) |
K136E |
possibly damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,284 (GRCm39) |
F253L |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,621 (GRCm39) |
Y574C |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,396,635 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 77,952,488 (GRCm39) |
R576S |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,041,904 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
| Or8b53 |
T |
G |
9: 38,667,914 (GRCm39) |
L310W |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,376 (GRCm39) |
Y326F |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,064,426 (GRCm39) |
D363E |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,434,974 (GRCm39) |
N313K |
probably benign |
Het |
| Pcdhb9 |
A |
C |
18: 37,534,602 (GRCm39) |
S199R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,622,599 (GRCm39) |
D1537N |
probably damaging |
Het |
| Pinx1 |
A |
G |
14: 64,156,984 (GRCm39) |
K304E |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,670,134 (GRCm39) |
V458A |
probably benign |
Het |
| Polr3a |
C |
A |
14: 24,534,455 (GRCm39) |
M60I |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,347,686 (GRCm39) |
S1046* |
probably null |
Het |
| Rigi |
T |
C |
4: 40,211,618 (GRCm39) |
E650G |
probably benign |
Het |
| Rps6ka5 |
G |
A |
12: 100,524,824 (GRCm39) |
P638S |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,298,658 (GRCm39) |
N158K |
probably damaging |
Het |
| Sord |
T |
C |
2: 122,089,561 (GRCm39) |
V187A |
probably damaging |
Het |
| Sult2a2 |
A |
G |
7: 13,468,710 (GRCm39) |
T59A |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,896,558 (GRCm39) |
D777G |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,345 (GRCm39) |
D159G |
probably benign |
Het |
| Trbc1 |
A |
G |
6: 41,516,195 (GRCm39) |
I142V |
|
Het |
| Usp17ld |
A |
G |
7: 102,900,041 (GRCm39) |
V297A |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,069 (GRCm39) |
*316R |
probably null |
Het |
| Wdr59 |
C |
A |
8: 112,248,570 (GRCm39) |
R15L |
|
Het |
| Zfp189 |
C |
T |
4: 49,529,367 (GRCm39) |
P157S |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,578,800 (GRCm39) |
G771D |
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 |
|
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 |
|
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'- TTTCCCCTACACTTGGAGGTG -3'
(R):5'- GACCTGCCTTCAATGGTGAGAG -3'
Sequencing Primer
(F):5'- CCCTACACTTGGAGGTGTCAAAG -3'
(R):5'- TGGACCAGAAGGCTGATTTCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation