Incidental Mutation 'R9106:D5Ertd579e'
| ID |
692004 |
| 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 |
068970-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R9106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36773682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 238
(A238T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031091
AA Change: A238T
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: A238T
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
A |
1: 179,614,601 (GRCm39) |
K394N |
probably benign |
Het |
| Banp |
A |
T |
8: 122,705,372 (GRCm39) |
T81S |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,465 (GRCm39) |
E495G |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,690,190 (GRCm39) |
I158M |
possibly damaging |
Het |
| Cgnl1 |
C |
A |
9: 71,628,873 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,753,223 (GRCm39) |
Q186L |
probably damaging |
Het |
| Clspn |
G |
A |
4: 126,471,243 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,432,162 (GRCm39) |
E224G |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,884 (GRCm39) |
L155P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,752 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Fam186a |
AGCCGCTGCCGCTGCCGCTGCCGC |
AGCCGCTGCCGCTGCCGC |
15: 99,844,107 (GRCm39) |
|
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,910 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
T |
G |
8: 57,985,729 (GRCm39) |
D547A |
probably damaging |
Het |
| Gm1527 |
C |
A |
3: 28,956,440 (GRCm39) |
D135E |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,747 (GRCm39) |
I679T |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,467,619 (GRCm39) |
R2523S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,637 (GRCm39) |
S218R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,776,891 (GRCm39) |
A4T |
unknown |
Het |
| Ly6f |
G |
T |
15: 75,141,706 (GRCm39) |
D50Y |
probably damaging |
Het |
| Mafg |
GGTTCTTCAGTGT |
GGT |
11: 120,520,415 (GRCm39) |
|
probably null |
Het |
| Map2 |
T |
A |
1: 66,454,522 (GRCm39) |
Y1137* |
probably null |
Het |
| Map4k3 |
C |
A |
17: 81,035,257 (GRCm39) |
R21L |
possibly damaging |
Het |
| Mapk10 |
A |
T |
5: 103,186,442 (GRCm39) |
V90D |
probably damaging |
Het |
| Mapkapk3 |
T |
A |
9: 107,136,067 (GRCm39) |
E219V |
probably damaging |
Het |
| Mideas |
T |
C |
12: 84,199,327 (GRCm39) |
Y1040C |
probably damaging |
Het |
| Mos |
T |
G |
4: 3,871,457 (GRCm39) |
I120L |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,679 (GRCm39) |
V83A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,065,768 (GRCm39) |
Q19R |
probably damaging |
Het |
| Myrip |
T |
C |
9: 120,261,544 (GRCm39) |
S386P |
probably benign |
Het |
| Mzt2 |
A |
G |
16: 15,666,568 (GRCm39) |
W141R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,428,856 (GRCm39) |
Y710H |
probably damaging |
Het |
| Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,527 (GRCm39) |
S29T |
probably benign |
Het |
| Oplah |
C |
A |
15: 76,189,876 (GRCm39) |
G150C |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,625,016 (GRCm39) |
T97A |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or52a20 |
G |
A |
7: 103,366,737 (GRCm39) |
C312Y |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,986,369 (GRCm39) |
Q10R |
probably benign |
Het |
| Patl1 |
A |
G |
19: 11,908,973 (GRCm39) |
K460R |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,179,100 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,680,757 (GRCm39) |
I17V |
probably benign |
Het |
| Ppp3r1 |
A |
G |
11: 17,144,789 (GRCm39) |
D134G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,570,315 (GRCm39) |
T763I |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,276,358 (GRCm39) |
D61G |
probably benign |
Het |
| Ptk2 |
T |
C |
15: 73,131,457 (GRCm39) |
M589V |
possibly damaging |
Het |
| Rabl6 |
A |
G |
2: 25,486,446 (GRCm39) |
W153R |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,109 (GRCm39) |
I843V |
|
Het |
| Resf1 |
T |
C |
6: 149,230,368 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,977,940 (GRCm39) |
E719G |
|
Het |
| Sart3 |
T |
C |
5: 113,892,410 (GRCm39) |
D363G |
possibly damaging |
Het |
| Sgo2a |
C |
A |
1: 58,037,283 (GRCm39) |
D9E |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,725,097 (GRCm39) |
V450A |
probably benign |
Het |
| Slc8b1 |
T |
A |
5: 120,668,416 (GRCm39) |
Y483N |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,617,974 (GRCm39) |
T475A |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,103,458 (GRCm39) |
F110L |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,815,975 (GRCm39) |
I686V |
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,495,269 (GRCm39) |
Y175N |
probably damaging |
Het |
| Tagap |
A |
T |
17: 8,150,280 (GRCm39) |
N222Y |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,278,479 (GRCm39) |
V1010M |
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,300,664 (GRCm39) |
I669N |
possibly damaging |
Het |
| Ubp1 |
A |
G |
9: 113,799,319 (GRCm39) |
T425A |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,681,713 (GRCm39) |
I508T |
probably damaging |
Het |
| Vit |
G |
A |
17: 78,934,278 (GRCm39) |
D627N |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
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 |
|
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'- AACCTGCTTCACTAGAGCCAG -3'
(R):5'- GTGCCTTGCTTATGAACTCTTG -3'
Sequencing Primer
(F):5'- TGCTTCACTAGAGCCAGATGAC -3'
(R):5'- GGTACTATGAAGCATTTCCACCACTG -3'
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| Posted On |
2021-12-30 |
Incidental Mutation