Incidental Mutation 'R5321:Endou'
| ID |
406122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Endou
|
| Ensembl Gene |
ENSMUSG00000022468 |
| Gene Name |
endonuclease, polyU-specific |
| Synonyms |
Tcl-30, Pp11r |
| MMRRC Submission |
042904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5321 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97608896-97629220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97618913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 37
(V37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023105]
[ENSMUST00000100249]
[ENSMUST00000230430]
|
| AlphaFold |
Q3V188 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023105
AA Change: V37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023105
Gene: ENSMUSG00000022468
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
SO
|
127 |
169 |
1.93e-11 |
SMART |
|
Pfam:XendoU
|
181 |
448 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100249
|
| SMART Domains |
Protein: ENSMUSP00000097820
Gene: ENSMUSG00000022468
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
SO
|
20 |
62 |
8.61e-9 |
SMART |
|
SO
|
85 |
127 |
1.93e-11 |
SMART |
|
Pfam:XendoU
|
136 |
407 |
2.8e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230430
AA Change: V37A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 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 protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal splenic B cell numbers and activation-induced B cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,218,651 (GRCm39) |
F72L |
probably benign |
Het |
| Btrc |
G |
A |
19: 45,496,197 (GRCm39) |
V211M |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,664 (GRCm39) |
Y1081N |
unknown |
Het |
| Cryzl1 |
T |
C |
16: 91,504,118 (GRCm39) |
Y109C |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,941,669 (GRCm39) |
S352T |
probably benign |
Het |
| Dzip3 |
T |
G |
16: 48,778,038 (GRCm39) |
T349P |
possibly damaging |
Het |
| Exosc1 |
A |
T |
19: 41,912,499 (GRCm39) |
C129* |
probably null |
Het |
| Flywch1 |
C |
G |
17: 23,975,625 (GRCm39) |
R539P |
probably damaging |
Het |
| Gm14410 |
G |
A |
2: 176,885,298 (GRCm39) |
T322I |
probably damaging |
Het |
| Lcor |
G |
T |
19: 41,573,643 (GRCm39) |
W799C |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,553,853 (GRCm39) |
V857M |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,862 (GRCm39) |
N195S |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,898,785 (GRCm39) |
Q160R |
probably damaging |
Het |
| Phtf1 |
C |
T |
3: 103,910,827 (GRCm39) |
T606I |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Scrt1 |
T |
C |
15: 76,403,370 (GRCm39) |
S207G |
unknown |
Het |
| Slc15a5 |
G |
T |
6: 137,964,436 (GRCm39) |
N496K |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 23,996,614 (GRCm39) |
I40F |
possibly damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,177,519 (GRCm39) |
V945G |
probably damaging |
Het |
| Tdrkh |
C |
A |
3: 94,332,965 (GRCm39) |
L169I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,865 (GRCm39) |
C35R |
probably damaging |
Het |
| Tpte |
A |
T |
8: 22,787,219 (GRCm39) |
R33* |
probably null |
Het |
| Trpv2 |
T |
A |
11: 62,475,397 (GRCm39) |
L270H |
probably damaging |
Het |
| Utp18 |
A |
G |
11: 93,757,260 (GRCm39) |
L468P |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,844,805 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,427 (GRCm39) |
S251L |
probably benign |
Het |
| Vmn1r24 |
A |
T |
6: 57,933,182 (GRCm39) |
L112* |
probably null |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,592 (GRCm39) |
L89P |
probably damaging |
Het |
| Vmn2r10 |
G |
T |
5: 109,143,505 (GRCm39) |
A815E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,595 (GRCm39) |
L416H |
probably damaging |
Het |
|
| Other mutations in Endou |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0364:Endou
|
UTSW |
15 |
97,616,854 (GRCm39) |
splice site |
probably benign |
|
|
R1134:Endou
|
UTSW |
15 |
97,611,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Endou
|
UTSW |
15 |
97,616,854 (GRCm39) |
splice site |
probably benign |
|
|
R1896:Endou
|
UTSW |
15 |
97,610,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2960:Endou
|
UTSW |
15 |
97,611,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Endou
|
UTSW |
15 |
97,616,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Endou
|
UTSW |
15 |
97,611,763 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4754:Endou
|
UTSW |
15 |
97,624,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Endou
|
UTSW |
15 |
97,629,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4997:Endou
|
UTSW |
15 |
97,617,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Endou
|
UTSW |
15 |
97,616,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Endou
|
UTSW |
15 |
97,618,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5764:Endou
|
UTSW |
15 |
97,612,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Endou
|
UTSW |
15 |
97,611,757 (GRCm39) |
nonsense |
probably null |
|
|
R6404:Endou
|
UTSW |
15 |
97,610,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Endou
|
UTSW |
15 |
97,617,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Endou
|
UTSW |
15 |
97,618,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7103:Endou
|
UTSW |
15 |
97,616,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Endou
|
UTSW |
15 |
97,616,807 (GRCm39) |
nonsense |
probably null |
|
|
R7707:Endou
|
UTSW |
15 |
97,610,983 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7759:Endou
|
UTSW |
15 |
97,611,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Endou
|
UTSW |
15 |
97,609,946 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9300:Endou
|
UTSW |
15 |
97,610,954 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9544:Endou
|
UTSW |
15 |
97,609,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTATTCGCACATCCCATC -3'
(R):5'- TTAAACCGTGCTTCGACAATAC -3'
Sequencing Primer
(F):5'- TATTCGCACATCCCATCCCAGC -3'
(R):5'- GTGCTTCGACAATACTTAACACCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation