Incidental Mutation 'R6213:D5Ertd579e'
| ID |
503550 |
| 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 |
044346-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R6213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36759978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1394
(T1394I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031091
AA Change: T1394I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T1394I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
| Meta Mutation Damage Score |
0.1720 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,762 (GRCm39) |
Y207H |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,040,765 (GRCm39) |
V335M |
probably damaging |
Het |
| Apol11b |
A |
C |
15: 77,522,200 (GRCm39) |
D32E |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdkn1b |
T |
A |
6: 134,898,206 (GRCm39) |
D108E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,222 (GRCm39) |
D984G |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,830 (GRCm39) |
V128A |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,492,656 (GRCm39) |
S3162P |
probably damaging |
Het |
| Ddx6 |
T |
A |
9: 44,539,990 (GRCm39) |
L306Q |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,996,082 (GRCm39) |
S403T |
possibly damaging |
Het |
| F11 |
G |
T |
8: 45,694,537 (GRCm39) |
T608K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,503,085 (GRCm39) |
R181H |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,771,864 (GRCm39) |
C260S |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,141 (GRCm39) |
S84T |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,724,019 (GRCm39) |
D332G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,930,367 (GRCm39) |
Q102R |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,174 (GRCm39) |
D1597E |
probably benign |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lypd8 |
A |
G |
11: 58,281,160 (GRCm39) |
T241A |
probably benign |
Het |
| Map1lc3a |
T |
C |
2: 155,118,935 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,642,198 (GRCm39) |
T1052I |
probably damaging |
Het |
| Muc2 |
T |
C |
7: 141,305,151 (GRCm39) |
C152R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,903 (GRCm39) |
M2950L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,421,356 (GRCm39) |
D4282G |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,420,963 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,734,541 (GRCm39) |
F708I |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,549 (GRCm39) |
F558Y |
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,932 (GRCm39) |
W30R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,390 (GRCm39) |
L1338S |
probably damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,017,066 (GRCm39) |
T97A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,132,823 (GRCm39) |
Y301* |
probably null |
Het |
| Nrcam |
C |
T |
12: 44,609,215 (GRCm39) |
P447S |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,485 (GRCm39) |
M1V |
probably null |
Het |
| Or1o4 |
T |
C |
17: 37,591,264 (GRCm39) |
S16G |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,821 (GRCm39) |
N194S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,139 (GRCm39) |
Y62H |
probably damaging |
Het |
| Pacsin3 |
G |
T |
2: 91,090,779 (GRCm39) |
V29F |
probably damaging |
Het |
| Pdzrn3 |
A |
C |
6: 101,354,805 (GRCm39) |
D15E |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,752 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
C |
1: 105,516,991 (GRCm39) |
V545G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,994 (GRCm39) |
N1373S |
possibly damaging |
Het |
| Ptchd4 |
T |
A |
17: 42,688,251 (GRCm39) |
H264Q |
probably benign |
Het |
| Ptpn3 |
G |
T |
4: 57,265,012 (GRCm39) |
Q73K |
probably damaging |
Het |
| Ptrh1 |
G |
A |
2: 32,666,757 (GRCm39) |
V109I |
probably benign |
Het |
| Reg1 |
A |
T |
6: 78,404,386 (GRCm39) |
I87F |
possibly damaging |
Het |
| Rrp12 |
C |
A |
19: 41,857,217 (GRCm39) |
V1186L |
probably benign |
Het |
| Sall1 |
AGTGGTGGTGGTGGTGGTGGTGG |
AGTGGTGGTGGTGGTGGTGG |
8: 89,759,686 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
A |
C |
1: 75,108,392 (GRCm39) |
F279V |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Suds3 |
A |
G |
5: 117,244,727 (GRCm39) |
L115P |
probably damaging |
Het |
| Tekt2 |
G |
A |
4: 126,216,989 (GRCm39) |
A260V |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,104,621 (GRCm39) |
Y391F |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,209,950 (GRCm39) |
S866P |
probably benign |
Het |
| Tspan14 |
A |
G |
14: 40,635,372 (GRCm39) |
Y175H |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,971,332 (GRCm39) |
T568A |
probably benign |
Het |
| Vmn1r216 |
T |
G |
13: 23,283,339 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp281 |
T |
C |
1: 136,553,250 (GRCm39) |
V76A |
probably benign |
Het |
| Zfp36l2 |
T |
C |
17: 84,493,980 (GRCm39) |
N219S |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,717 (GRCm39) |
M42T |
probably benign |
Het |
| Zscan21 |
C |
T |
5: 138,123,359 (GRCm39) |
P13S |
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 |
|
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'- TGGACAGCACAGTCTAGTCTAC -3'
(R):5'- AGGTGTCTTCTGTTTATGAAGCAAG -3'
Sequencing Primer
(F):5'- GCACAGTCTAGTCTACTTCAGAGAG -3'
(R):5'- GATGCACAGGAGAGAGAGGTTCTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation