Incidental Mutation 'R0988:Extl1'
ID |
97360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Extl1
|
Ensembl Gene |
ENSMUSG00000028838 |
Gene Name |
exostosin-like glycosyltransferase 1 |
Synonyms |
D430033M16Rik |
MMRRC Submission |
039108-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R0988 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TGCGTTGCACCGATACCGGG to TG
at 134084988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
[ENSMUST00000081094]
[ENSMUST00000105872]
[ENSMUST00000105874]
|
AlphaFold |
Q9JKV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030643
|
SMART Domains |
Protein: ENSMUSP00000030643 Gene: ENSMUSG00000028838
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
97% (34/35) |
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 |
Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
probably benign |
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 |
|
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 |
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'- TGTGCGAAACGTGCCAAACG -3'
(R):5'- ATGAACTTCCTGGTAGCCACCGTC -3'
Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- ACTGCCCCCTATCAAGGTG -3'
|
Posted On |
2014-01-05 |