Incidental Mutation 'R2034:D5Ertd579e'
| ID |
224311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
9030221A05Rik, A930018H20Rik |
| MMRRC Submission |
040041-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R2034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 36770882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 64
(L64*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031091
AA Change: L1171*
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: L1171*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132383
AA Change: L64*
|
| SMART Domains |
Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190
AA Change: L64*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140063
|
| SMART Domains |
Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
77 |
1e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,385 (GRCm39) |
I65V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,242,628 (GRCm39) |
N1497S |
possibly damaging |
Het |
| Afmid |
C |
A |
11: 117,726,061 (GRCm39) |
N184K |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,984,679 (GRCm39) |
I459N |
possibly damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,378 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,048 (GRCm39) |
I223F |
probably damaging |
Het |
| B3gnt6 |
A |
G |
7: 97,843,225 (GRCm39) |
L245P |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,363,668 (GRCm39) |
R784Q |
probably damaging |
Het |
| Brca1 |
C |
G |
11: 101,380,675 (GRCm39) |
S1786T |
probably benign |
Het |
| Btbd3 |
T |
G |
2: 138,120,903 (GRCm39) |
S26A |
probably benign |
Het |
| Cacna1d |
C |
A |
14: 29,811,820 (GRCm39) |
V1277L |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,346,491 (GRCm39) |
T6I |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,792,075 (GRCm39) |
V1262A |
unknown |
Het |
| Crh |
C |
A |
3: 19,748,262 (GRCm39) |
G127C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddc |
T |
A |
11: 11,830,456 (GRCm39) |
I63L |
probably benign |
Het |
| Eif3a |
C |
T |
19: 60,750,568 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,512 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
A |
G |
2: 64,753,873 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
T |
5: 21,475,593 (GRCm39) |
I545F |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,803,899 (GRCm39) |
|
probably null |
Het |
| Helz2 |
G |
A |
2: 180,874,371 (GRCm39) |
P2041L |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,349,254 (GRCm39) |
A2038T |
probably benign |
Het |
| Il10 |
C |
A |
1: 130,951,922 (GRCm39) |
Q152K |
probably benign |
Het |
| Klrg1 |
A |
G |
6: 122,256,596 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,401,408 (GRCm39) |
T160A |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,560,939 (GRCm39) |
|
probably null |
Het |
| Mmp2 |
C |
T |
8: 93,563,540 (GRCm39) |
S338F |
probably damaging |
Het |
| Nalcn |
T |
G |
14: 123,521,015 (GRCm39) |
D1630A |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,235,207 (GRCm39) |
S909G |
probably benign |
Het |
| Neb |
A |
T |
2: 52,170,623 (GRCm39) |
M1683K |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,350 (GRCm39) |
I637V |
possibly damaging |
Het |
| Npw |
G |
A |
17: 24,877,242 (GRCm39) |
S53F |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,111,343 (GRCm39) |
|
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,200,097 (GRCm39) |
|
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,440 (GRCm39) |
M233V |
probably benign |
Het |
| Or5b21 |
T |
A |
19: 12,839,151 (GRCm39) |
M4K |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,871,720 (GRCm39) |
I1133F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,546 (GRCm39) |
V292A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,545,406 (GRCm39) |
|
probably null |
Het |
| Phf2 |
A |
G |
13: 48,971,206 (GRCm39) |
S489P |
unknown |
Het |
| Pik3r5 |
T |
A |
11: 68,384,403 (GRCm39) |
N598K |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,261,516 (GRCm39) |
E432D |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,045,343 (GRCm39) |
I274V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,270,893 (GRCm39) |
T3220I |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,462,902 (GRCm39) |
I890V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,015,124 (GRCm39) |
V492A |
possibly damaging |
Het |
| Prp2 |
G |
T |
6: 132,572,947 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
C |
2: 25,475,444 (GRCm39) |
E543G |
possibly damaging |
Het |
| Rgp1 |
T |
A |
4: 43,581,605 (GRCm39) |
|
probably null |
Het |
| Rps6kb2 |
T |
C |
19: 4,211,106 (GRCm39) |
T140A |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,429 (GRCm39) |
I91T |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,774,569 (GRCm39) |
L230P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,120,737 (GRCm39) |
D370G |
probably damaging |
Het |
| Sim2 |
A |
C |
16: 93,886,801 (GRCm39) |
I43L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,226,798 (GRCm39) |
L419P |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,628,651 (GRCm39) |
E817K |
probably damaging |
Het |
| Stag3 |
A |
G |
5: 138,296,263 (GRCm39) |
E442G |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,890,645 (GRCm39) |
N361S |
probably damaging |
Het |
| Tmco6 |
A |
G |
18: 36,870,909 (GRCm39) |
|
probably null |
Het |
| Tmem104 |
T |
A |
11: 115,134,373 (GRCm39) |
I303N |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,026,352 (GRCm39) |
D86Y |
probably damaging |
Het |
| Tut4 |
C |
T |
4: 108,369,392 (GRCm39) |
R651W |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,786,883 (GRCm39) |
E276A |
possibly damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,886,988 (GRCm39) |
M185T |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,242 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,381,868 (GRCm39) |
K568* |
probably null |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:D5Ertd579e
|
APN |
5 |
36,776,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01925:D5Ertd579e
|
APN |
5 |
36,771,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01933:D5Ertd579e
|
APN |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,772,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:D5Ertd579e
|
APN |
5 |
36,773,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:D5Ertd579e
|
APN |
5 |
36,771,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03141:D5Ertd579e
|
APN |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03235:D5Ertd579e
|
APN |
5 |
36,776,172 (GRCm39) |
splice site |
probably benign |
|
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,773,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:D5Ertd579e
|
UTSW |
5 |
36,761,911 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0830:D5Ertd579e
|
UTSW |
5 |
36,771,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:D5Ertd579e
|
UTSW |
5 |
36,830,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:D5Ertd579e
|
UTSW |
5 |
36,771,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:D5Ertd579e
|
UTSW |
5 |
36,760,083 (GRCm39) |
missense |
probably benign |
|
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1676:D5Ertd579e
|
UTSW |
5 |
36,773,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1693:D5Ertd579e
|
UTSW |
5 |
36,771,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1698:D5Ertd579e
|
UTSW |
5 |
36,761,874 (GRCm39) |
missense |
probably benign |
|
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,773,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,773,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:D5Ertd579e
|
UTSW |
5 |
36,770,793 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2197:D5Ertd579e
|
UTSW |
5 |
36,772,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4212:D5Ertd579e
|
UTSW |
5 |
36,771,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4452:D5Ertd579e
|
UTSW |
5 |
36,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:D5Ertd579e
|
UTSW |
5 |
36,771,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4804:D5Ertd579e
|
UTSW |
5 |
36,786,996 (GRCm39) |
splice site |
probably null |
|
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,772,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4917:D5Ertd579e
|
UTSW |
5 |
36,773,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:D5Ertd579e
|
UTSW |
5 |
36,773,571 (GRCm39) |
nonsense |
probably null |
|
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,830,249 (GRCm39) |
missense |
probably benign |
|
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,760,047 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5474:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5477:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:D5Ertd579e
|
UTSW |
5 |
36,761,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:D5Ertd579e
|
UTSW |
5 |
36,787,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6184:D5Ertd579e
|
UTSW |
5 |
36,787,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6213:D5Ertd579e
|
UTSW |
5 |
36,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:D5Ertd579e
|
UTSW |
5 |
36,772,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6276:D5Ertd579e
|
UTSW |
5 |
36,761,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6285:D5Ertd579e
|
UTSW |
5 |
36,772,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:D5Ertd579e
|
UTSW |
5 |
36,773,580 (GRCm39) |
splice site |
probably null |
|
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,762,001 (GRCm39) |
splice site |
probably null |
|
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,771,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:D5Ertd579e
|
UTSW |
5 |
36,773,739 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7464:D5Ertd579e
|
UTSW |
5 |
36,771,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:D5Ertd579e
|
UTSW |
5 |
36,771,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:D5Ertd579e
|
UTSW |
5 |
36,770,725 (GRCm39) |
missense |
|
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,772,517 (GRCm39) |
missense |
probably benign |
|
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8233:D5Ertd579e
|
UTSW |
5 |
36,772,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8281:D5Ertd579e
|
UTSW |
5 |
36,770,664 (GRCm39) |
missense |
|
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,771,621 (GRCm39) |
nonsense |
probably null |
|
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,830,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8771:D5Ertd579e
|
UTSW |
5 |
36,761,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:D5Ertd579e
|
UTSW |
5 |
36,787,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9106:D5Ertd579e
|
UTSW |
5 |
36,773,682 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9121:D5Ertd579e
|
UTSW |
5 |
36,772,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:D5Ertd579e
|
UTSW |
5 |
36,772,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:D5Ertd579e
|
UTSW |
5 |
36,759,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9715:D5Ertd579e
|
UTSW |
5 |
36,787,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9723:D5Ertd579e
|
UTSW |
5 |
36,772,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF022:D5Ertd579e
|
UTSW |
5 |
36,772,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:D5Ertd579e
|
UTSW |
5 |
36,771,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:D5Ertd579e
|
UTSW |
5 |
36,773,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:D5Ertd579e
|
UTSW |
5 |
36,772,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTTGCTGCTGAGCTTTC -3'
(R):5'- AGGACACAGTACAGGGCTATTCG -3'
Sequencing Primer
(F):5'- GCTGCTGAGCTTTCTAAATTAATTTC -3'
(R):5'- CAGTACAGGGCTATTCGAATCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation