Incidental Mutation 'R6875:D5Ertd579e'
| ID |
536361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
|
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R6875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36600485-36696024 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 36604657 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031091
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132383
|
| SMART Domains |
Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,068 (GRCm38) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,701,628 (GRCm38) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,112,875 (GRCm38) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,768,173 (GRCm38) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,925,665 (GRCm38) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,797,352 (GRCm38) |
L614P |
probably benign |
Het |
| C130060K24Rik |
A |
T |
6: 65,456,336 (GRCm38) |
N380I |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,343,963 (GRCm38) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,661,918 (GRCm38) |
D596E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,615,107 (GRCm38) |
S407P |
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,634,350 (GRCm38) |
T86A |
probably damaging |
Het |
| Eif3l |
A |
G |
15: 79,085,560 (GRCm38) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,328,468 (GRCm38) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 71,714,425 (GRCm38) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,073,216 (GRCm38) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,749 (GRCm38) |
Y834F |
probably damaging |
Het |
| Gcn1l1 |
T |
C |
5: 115,588,110 (GRCm38) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,202,276 (GRCm38) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,937,132 (GRCm38) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,665,893 (GRCm38) |
D586G |
probably damaging |
Het |
| Il1f9 |
G |
C |
2: 24,188,621 (GRCm38) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,904,911 (GRCm38) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,112,771 (GRCm38) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 22,932,361 (GRCm38) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,735,994 (GRCm38) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,866,342 (GRCm38) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,997,908 (GRCm38) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,784,106 (GRCm38) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 (GRCm38) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,659 (GRCm38) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 126,023,194 (GRCm38) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,909,910 (GRCm38) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,770,836 (GRCm38) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,340,477 (GRCm38) |
Y365C |
probably benign |
Het |
| Olfr1305 |
A |
T |
2: 111,872,961 (GRCm38) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,787,446 (GRCm38) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,471,438 (GRCm38) |
S373P |
probably damaging |
Het |
| Rab28 |
T |
C |
5: 41,703,534 (GRCm38) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,279,226 (GRCm38) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,228,818 (GRCm38) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,672,371 (GRCm38) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Runx2 |
G |
A |
17: 44,814,192 (GRCm38) |
P80L |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,486,644 (GRCm38) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,355,200 (GRCm38) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,667,305 (GRCm38) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,353,506 (GRCm38) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,791,902 (GRCm38) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,482,831 (GRCm38) |
K792R |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,673 (GRCm38) |
F100S |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,697,436 (GRCm38) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,035,630 (GRCm38) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,762,155 (GRCm38) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,531,642 (GRCm38) |
H126Q |
probably benign |
Het |
| Tulp2 |
C |
A |
7: 45,518,614 (GRCm38) |
T150K |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,242,429 (GRCm38) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,649,640 (GRCm38) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,643,665 (GRCm38) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 71,889,007 (GRCm38) |
N93K |
possibly damaging |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:D5Ertd579e
|
APN |
5 |
36,618,754 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01925:D5Ertd579e
|
APN |
5 |
36,614,284 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01933:D5Ertd579e
|
APN |
5 |
36,615,756 (GRCm38) |
missense |
probably benign |
|
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,614,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02399:D5Ertd579e
|
APN |
5 |
36,616,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02896:D5Ertd579e
|
APN |
5 |
36,613,982 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03141:D5Ertd579e
|
APN |
5 |
36,613,277 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03235:D5Ertd579e
|
APN |
5 |
36,618,828 (GRCm38) |
splice site |
probably benign |
|
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,616,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0377:D5Ertd579e
|
UTSW |
5 |
36,604,567 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0830:D5Ertd579e
|
UTSW |
5 |
36,613,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0926:D5Ertd579e
|
UTSW |
5 |
36,672,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1350:D5Ertd579e
|
UTSW |
5 |
36,613,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1448:D5Ertd579e
|
UTSW |
5 |
36,602,739 (GRCm38) |
missense |
probably benign |
|
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,613,277 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1676:D5Ertd579e
|
UTSW |
5 |
36,616,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1693:D5Ertd579e
|
UTSW |
5 |
36,614,097 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1698:D5Ertd579e
|
UTSW |
5 |
36,604,530 (GRCm38) |
missense |
probably benign |
|
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,616,427 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1909:D5Ertd579e
|
UTSW |
5 |
36,614,058 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2034:D5Ertd579e
|
UTSW |
5 |
36,613,538 (GRCm38) |
nonsense |
probably null |
|
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,616,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2105:D5Ertd579e
|
UTSW |
5 |
36,613,449 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2197:D5Ertd579e
|
UTSW |
5 |
36,614,793 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4212:D5Ertd579e
|
UTSW |
5 |
36,614,479 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4452:D5Ertd579e
|
UTSW |
5 |
36,616,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4626:D5Ertd579e
|
UTSW |
5 |
36,614,559 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4804:D5Ertd579e
|
UTSW |
5 |
36,629,652 (GRCm38) |
splice site |
probably null |
|
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,614,941 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4917:D5Ertd579e
|
UTSW |
5 |
36,615,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:D5Ertd579e
|
UTSW |
5 |
36,616,227 (GRCm38) |
nonsense |
probably null |
|
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,672,905 (GRCm38) |
missense |
probably benign |
|
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,602,703 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5474:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5475:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5476:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5477:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5801:D5Ertd579e
|
UTSW |
5 |
36,604,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:D5Ertd579e
|
UTSW |
5 |
36,629,692 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6184:D5Ertd579e
|
UTSW |
5 |
36,629,783 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6213:D5Ertd579e
|
UTSW |
5 |
36,602,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6244:D5Ertd579e
|
UTSW |
5 |
36,615,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6276:D5Ertd579e
|
UTSW |
5 |
36,604,514 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6285:D5Ertd579e
|
UTSW |
5 |
36,615,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6358:D5Ertd579e
|
UTSW |
5 |
36,616,236 (GRCm38) |
splice site |
probably null |
|
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,615,756 (GRCm38) |
missense |
probably benign |
|
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,613,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7329:D5Ertd579e
|
UTSW |
5 |
36,616,395 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7464:D5Ertd579e
|
UTSW |
5 |
36,613,785 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7664:D5Ertd579e
|
UTSW |
5 |
36,614,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7762:D5Ertd579e
|
UTSW |
5 |
36,613,381 (GRCm38) |
missense |
|
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,615,173 (GRCm38) |
missense |
probably benign |
|
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,615,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8217:D5Ertd579e
|
UTSW |
5 |
36,614,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8233:D5Ertd579e
|
UTSW |
5 |
36,615,244 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8281:D5Ertd579e
|
UTSW |
5 |
36,613,320 (GRCm38) |
missense |
|
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,614,277 (GRCm38) |
nonsense |
probably null |
|
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,672,807 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8771:D5Ertd579e
|
UTSW |
5 |
36,604,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:D5Ertd579e
|
UTSW |
5 |
36,629,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9106:D5Ertd579e
|
UTSW |
5 |
36,616,338 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9121:D5Ertd579e
|
UTSW |
5 |
36,615,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9413:D5Ertd579e
|
UTSW |
5 |
36,614,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9569:D5Ertd579e
|
UTSW |
5 |
36,602,635 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9715:D5Ertd579e
|
UTSW |
5 |
36,629,685 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9723:D5Ertd579e
|
UTSW |
5 |
36,614,940 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF022:D5Ertd579e
|
UTSW |
5 |
36,614,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0019:D5Ertd579e
|
UTSW |
5 |
36,613,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:D5Ertd579e
|
UTSW |
5 |
36,615,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:D5Ertd579e
|
UTSW |
5 |
36,614,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGGACCCTCAAGTGTG -3'
(R):5'- TTACAGTAGAGTATGCTTATGCTGG -3'
Sequencing Primer
(F):5'- CCCTCAAGTGTGTGACTAGAATG -3'
(R):5'- AGAGTATGCTTATGCTGGCCTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation