Incidental Mutation 'R6251:Extl3'
| ID |
506243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl3
|
| Ensembl Gene |
ENSMUSG00000021978 |
| Gene Name |
exostosin-like glycosyltransferase 3 |
| Synonyms |
2900009G18Rik |
| MMRRC Submission |
044368-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65314375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022550]
[ENSMUST00000225633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022550
AA Change: D269G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: D269G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
81 |
150 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
190 |
500 |
1.6e-60 |
PFAM |
|
Pfam:Glyco_transf_64
|
663 |
904 |
1.3e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223989
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225633
AA Change: D269G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,445 (GRCm39) |
S36P |
probably damaging |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap26 |
A |
T |
18: 39,490,880 (GRCm39) |
S328C |
probably null |
Het |
| Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,005,559 (GRCm39) |
A192T |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,573 (GRCm39) |
M1110L |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,220,883 (GRCm39) |
I175T |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,655,227 (GRCm39) |
I71N |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,044,407 (GRCm39) |
Y140F |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,362,269 (GRCm39) |
T17M |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,323 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,558,094 (GRCm39) |
V170D |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,038,917 (GRCm39) |
D224G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Daglb |
T |
A |
5: 143,475,689 (GRCm39) |
L383Q |
probably damaging |
Het |
| Dazap2 |
T |
G |
15: 100,514,864 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,068,905 (GRCm39) |
D40V |
probably benign |
Het |
| Dynlt2b |
T |
A |
16: 32,245,727 (GRCm39) |
D125E |
possibly damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,925 (GRCm39) |
D406Y |
probably damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,935 (GRCm39) |
R409L |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,457,843 (GRCm39) |
T966A |
probably benign |
Het |
| Gfra3 |
TGCGC |
TGC |
18: 34,828,864 (GRCm39) |
|
probably null |
Het |
| Gpr87 |
A |
T |
3: 59,086,528 (GRCm39) |
F326I |
probably damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,137 (GRCm39) |
P151H |
probably damaging |
Het |
| Kcnj14 |
T |
A |
7: 45,467,440 (GRCm39) |
E302V |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 921,693 (GRCm39) |
Y534H |
probably damaging |
Homo |
| Map3k5 |
T |
A |
10: 20,014,006 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,748,590 (GRCm39) |
T4212A |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,504 (GRCm39) |
S122R |
probably damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,648 (GRCm39) |
R271W |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,215,513 (GRCm39) |
H76Q |
probably damaging |
Het |
| Notch1 |
C |
A |
2: 26,364,182 (GRCm39) |
E846D |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,534 (GRCm39) |
S164P |
probably benign |
Het |
| Or4a67 |
T |
C |
2: 88,598,632 (GRCm39) |
E9G |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TT |
TTGCTGTGT |
9: 37,937,844 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
GGGATTGC |
9: 37,937,833 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TGTTT |
TGTTTGCAGTTT |
9: 37,937,841 (GRCm39) |
|
probably null |
Het |
| Or8g18 |
T |
A |
9: 39,149,514 (GRCm39) |
I72F |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,825,399 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,424 (GRCm39) |
V494A |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,531,247 (GRCm39) |
V516A |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,141 (GRCm39) |
R1104K |
probably benign |
Het |
| Rap1a |
A |
T |
3: 105,639,311 (GRCm39) |
L116* |
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,356,649 (GRCm39) |
*230R |
probably null |
Het |
| Rtl1 |
G |
T |
12: 109,560,083 (GRCm39) |
N585K |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,802,795 (GRCm39) |
R110I |
possibly damaging |
Het |
| Spink6 |
T |
C |
18: 44,207,498 (GRCm39) |
|
probably null |
Het |
| Spopfm1 |
G |
T |
3: 94,173,208 (GRCm39) |
S72I |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,137,383 (GRCm39) |
|
probably null |
Het |
| Tcstv2a |
T |
C |
13: 120,724,907 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
T |
17: 45,846,085 (GRCm39) |
T230S |
probably benign |
Het |
| Tecpr1 |
C |
A |
5: 144,135,394 (GRCm39) |
V1020L |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,160,261 (GRCm39) |
Y192C |
possibly damaging |
Het |
| Trim63 |
A |
T |
4: 134,050,537 (GRCm39) |
T274S |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,957,048 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
probably benign |
Het |
|
| Other mutations in Extl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Extl3
|
APN |
14 |
65,314,438 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL00329:Extl3
|
APN |
14 |
65,313,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00959:Extl3
|
APN |
14 |
65,314,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01321:Extl3
|
APN |
14 |
65,304,211 (GRCm39) |
missense |
probably benign |
|
|
IGL01443:Extl3
|
APN |
14 |
65,314,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Extl3
|
APN |
14 |
65,314,529 (GRCm39) |
missense |
probably benign |
|
|
IGL01517:Extl3
|
APN |
14 |
65,314,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01955:Extl3
|
APN |
14 |
65,313,415 (GRCm39) |
missense |
probably benign |
|
|
IGL02073:Extl3
|
APN |
14 |
65,313,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Extl3
|
APN |
14 |
65,313,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Extl3
|
APN |
14 |
65,315,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Extl3
|
APN |
14 |
65,314,693 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02961:Extl3
|
APN |
14 |
65,294,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
G1Funyon:Extl3
|
UTSW |
14 |
65,313,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0532:Extl3
|
UTSW |
14 |
65,315,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0580:Extl3
|
UTSW |
14 |
65,313,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Extl3
|
UTSW |
14 |
65,314,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1495:Extl3
|
UTSW |
14 |
65,313,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1916:Extl3
|
UTSW |
14 |
65,315,071 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2409:Extl3
|
UTSW |
14 |
65,315,017 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2484:Extl3
|
UTSW |
14 |
65,313,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Extl3
|
UTSW |
14 |
65,313,745 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4764:Extl3
|
UTSW |
14 |
65,314,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4845:Extl3
|
UTSW |
14 |
65,315,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4858:Extl3
|
UTSW |
14 |
65,313,443 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5049:Extl3
|
UTSW |
14 |
65,313,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5439:Extl3
|
UTSW |
14 |
65,292,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Extl3
|
UTSW |
14 |
65,313,584 (GRCm39) |
missense |
probably benign |
|
|
R6299:Extl3
|
UTSW |
14 |
65,314,121 (GRCm39) |
missense |
probably benign |
|
|
R6807:Extl3
|
UTSW |
14 |
65,314,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Extl3
|
UTSW |
14 |
65,304,189 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6975:Extl3
|
UTSW |
14 |
65,304,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:Extl3
|
UTSW |
14 |
65,314,090 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7846:Extl3
|
UTSW |
14 |
65,313,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Extl3
|
UTSW |
14 |
65,314,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8301:Extl3
|
UTSW |
14 |
65,313,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8922:Extl3
|
UTSW |
14 |
65,292,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9329:Extl3
|
UTSW |
14 |
65,314,765 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9634:Extl3
|
UTSW |
14 |
65,314,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Extl3
|
UTSW |
14 |
65,292,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9801:Extl3
|
UTSW |
14 |
65,314,782 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGGTTCAGACATAGCATGG -3'
(R):5'- TCCCGTCTACGTCTATGACAG -3'
Sequencing Primer
(F):5'- TTCAGACATAGCATGGACAAGG -3'
(R):5'- ATGACAGTGACCAGTTTGCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation