Incidental Mutation 'RF029:Exd2'
| ID |
604284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Exd2
|
| Ensembl Gene |
ENSMUSG00000032705 |
| Gene Name |
exonuclease 3'-5' domain containing 2 |
| Synonyms |
4930539P14Rik, Exdl2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
80509869-80544909 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CCACAGC to CC
at 80522720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038185]
[ENSMUST00000219272]
|
| AlphaFold |
Q8VEG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038185
|
| SMART Domains |
Protein: ENSMUSP00000043049
Gene: ENSMUSG00000032705
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
72 |
N/A |
INTRINSIC |
|
35EXOc
|
105 |
291 |
3.8e-10 |
SMART |
|
Blast:HNHc
|
438 |
492 |
1e-6 |
BLAST |
|
low complexity region
|
517 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219272
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Exd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Exd2
|
APN |
12 |
80,522,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00546:Exd2
|
APN |
12 |
80,527,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02964:Exd2
|
APN |
12 |
80,527,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03036:Exd2
|
APN |
12 |
80,536,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Exd2
|
UTSW |
12 |
80,538,014 (GRCm39) |
unclassified |
probably benign |
|
|
R0436:Exd2
|
UTSW |
12 |
80,537,544 (GRCm39) |
splice site |
probably benign |
|
|
R1290:Exd2
|
UTSW |
12 |
80,531,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1772:Exd2
|
UTSW |
12 |
80,536,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2102:Exd2
|
UTSW |
12 |
80,527,377 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2104:Exd2
|
UTSW |
12 |
80,543,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2408:Exd2
|
UTSW |
12 |
80,531,015 (GRCm39) |
splice site |
probably benign |
|
|
R3693:Exd2
|
UTSW |
12 |
80,527,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Exd2
|
UTSW |
12 |
80,527,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Exd2
|
UTSW |
12 |
80,522,592 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5022:Exd2
|
UTSW |
12 |
80,543,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Exd2
|
UTSW |
12 |
80,543,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Exd2
|
UTSW |
12 |
80,531,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Exd2
|
UTSW |
12 |
80,536,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Exd2
|
UTSW |
12 |
80,527,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Exd2
|
UTSW |
12 |
80,522,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7776:Exd2
|
UTSW |
12 |
80,539,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Exd2
|
UTSW |
12 |
80,536,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8420:Exd2
|
UTSW |
12 |
80,522,771 (GRCm39) |
missense |
probably benign |
|
|
R8559:Exd2
|
UTSW |
12 |
80,522,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9064:Exd2
|
UTSW |
12 |
80,531,148 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9173:Exd2
|
UTSW |
12 |
80,536,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9274:Exd2
|
UTSW |
12 |
80,539,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9674:Exd2
|
UTSW |
12 |
80,536,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Exd2
|
UTSW |
12 |
80,522,706 (GRCm39) |
frame shift |
probably null |
|
|
RF015:Exd2
|
UTSW |
12 |
80,522,691 (GRCm39) |
intron |
probably benign |
|
|
RF022:Exd2
|
UTSW |
12 |
80,522,691 (GRCm39) |
intron |
probably benign |
|
|
RF023:Exd2
|
UTSW |
12 |
80,522,689 (GRCm39) |
intron |
probably benign |
|
|
RF025:Exd2
|
UTSW |
12 |
80,522,729 (GRCm39) |
intron |
probably benign |
|
|
RF035:Exd2
|
UTSW |
12 |
80,522,729 (GRCm39) |
intron |
probably benign |
|
|
RF035:Exd2
|
UTSW |
12 |
80,522,674 (GRCm39) |
intron |
probably benign |
|
|
RF039:Exd2
|
UTSW |
12 |
80,522,715 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGATCAGTGAAATGCTTTCC -3'
(R):5'- GCTGGATTTGATTCCACTCTGC -3'
Sequencing Primer
(F):5'- TGCTTTCCTAAAAAGTGAAAGGC -3'
(R):5'- GCCTCCTGAGATACCGTCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation