Incidental Mutation 'R9715:D5Ertd579e'
ID |
730388 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R9715 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36787029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 113
(V113D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031091
AA Change: V113D
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: V113D
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
C |
T |
7: 45,629,359 (GRCm39) |
V1323I |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
Cbr3 |
A |
G |
16: 93,481,941 (GRCm39) |
D99G |
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,455,090 (GRCm39) |
L215Q |
probably damaging |
Het |
Cep350 |
A |
G |
1: 155,751,107 (GRCm39) |
Y2022H |
probably benign |
Het |
Cimip2c |
G |
C |
5: 30,641,261 (GRCm39) |
D170H |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,183,547 (GRCm39) |
S338P |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,384 (GRCm39) |
N679S |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,993,307 (GRCm39) |
I317T |
probably damaging |
Het |
Fgd5 |
T |
C |
6: 91,965,290 (GRCm39) |
Y508H |
possibly damaging |
Het |
Foxd2 |
G |
T |
4: 114,765,195 (GRCm39) |
A275E |
unknown |
Het |
Fut9 |
C |
A |
4: 25,620,679 (GRCm39) |
S45I |
probably benign |
Het |
Gm5148 |
T |
C |
3: 37,768,801 (GRCm39) |
N140D |
unknown |
Het |
Gpr37l1 |
C |
T |
1: 135,089,391 (GRCm39) |
G225S |
probably damaging |
Het |
Gramd1c |
G |
A |
16: 43,825,840 (GRCm39) |
S107L |
possibly damaging |
Het |
Gtpbp2 |
A |
G |
17: 46,478,301 (GRCm39) |
D483G |
|
Het |
Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
Ino80e |
A |
T |
7: 126,461,098 (GRCm39) |
Y50N |
unknown |
Het |
Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,566 (GRCm39) |
V390A |
probably benign |
Het |
Limch1 |
A |
C |
5: 67,156,360 (GRCm39) |
N276H |
probably damaging |
Het |
Negr1 |
T |
G |
3: 156,774,936 (GRCm39) |
|
probably null |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nlrp14 |
G |
A |
7: 106,781,626 (GRCm39) |
M274I |
probably benign |
Het |
Nr1d1 |
T |
C |
11: 98,662,943 (GRCm39) |
I17V |
probably benign |
Het |
Or10ad1b |
T |
A |
15: 98,124,902 (GRCm39) |
D210V |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,100,623 (GRCm39) |
I30V |
probably benign |
Het |
Or5p64 |
A |
G |
7: 107,855,198 (GRCm39) |
I49T |
probably benign |
Het |
Ppip5k2 |
A |
G |
1: 97,677,312 (GRCm39) |
V334A |
|
Het |
Ppp1r9a |
G |
A |
6: 5,045,936 (GRCm39) |
V467I |
probably damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,097,488 (GRCm39) |
I225V |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,345,108 (GRCm39) |
N38I |
probably damaging |
Het |
Scn2a |
C |
A |
2: 65,579,149 (GRCm39) |
Q1495K |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,519,902 (GRCm39) |
Y1001N |
possibly damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Sh3bgrl2 |
T |
A |
9: 83,430,513 (GRCm39) |
M1K |
probably null |
Het |
Slc25a12 |
C |
T |
2: 71,109,899 (GRCm39) |
V516M |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,091,000 (GRCm39) |
L1402P |
probably damaging |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Svop |
A |
G |
5: 114,198,169 (GRCm39) |
S135P |
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,035,957 (GRCm39) |
D243E |
probably damaging |
Het |
Tcerg1 |
T |
C |
18: 42,706,413 (GRCm39) |
F1030S |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,286,596 (GRCm39) |
N687Y |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,081,759 (GRCm39) |
H1230Q |
|
Het |
Tfap2b |
T |
C |
1: 19,284,373 (GRCm39) |
S94P |
probably damaging |
Het |
Tll2 |
C |
A |
19: 41,092,238 (GRCm39) |
G533V |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,402,061 (GRCm39) |
V409A |
probably damaging |
Het |
Wdr41 |
A |
G |
13: 95,145,373 (GRCm39) |
E194G |
probably damaging |
Het |
Zan |
G |
T |
5: 137,398,817 (GRCm39) |
S4182R |
unknown |
Het |
Zfpl1 |
T |
C |
19: 6,134,074 (GRCm39) |
Y40C |
probably damaging |
Het |
Znrf3 |
C |
A |
11: 5,232,454 (GRCm39) |
R257L |
possibly damaging |
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 |
R2034:D5Ertd579e
|
UTSW |
5 |
36,770,882 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- CAAGGACCTGAGTCTAAAACAATG -3'
(R):5'- TGCAGGGCTCCTTAAACTG -3'
Sequencing Primer
(F):5'- ATATTGAGTTCCAGGCCAGC -3'
(R):5'- CAGGGCTCCTTAAACTGGTTTTCTAG -3'
|
Posted On |
2022-10-06 |