Incidental Mutation 'R6244:D5Ertd579e'
| ID |
505441 |
| 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 |
044435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R6244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36772620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 592
(F592L)
|
| 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: F592L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: F592L
| 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: 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201187
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
96% (82/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
T |
C |
2: 155,845,150 (GRCm39) |
H113R |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,531 (GRCm39) |
M499K |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,255,050 (GRCm39) |
T211I |
probably damaging |
Het |
| Adss2 |
C |
T |
1: 177,604,395 (GRCm39) |
E153K |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,280 (GRCm39) |
G431V |
possibly damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Atp2b4 |
T |
A |
1: 133,654,299 (GRCm39) |
I769F |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,531,272 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,011,148 (GRCm39) |
V1782A |
probably benign |
Het |
| Brap |
C |
A |
5: 121,803,372 (GRCm39) |
D173E |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,490,443 (GRCm39) |
R3035L |
probably benign |
Het |
| Ccdc8 |
C |
A |
7: 16,730,176 (GRCm39) |
P555Q |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,675 (GRCm39) |
S170P |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,444 (GRCm39) |
H860R |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,194,244 (GRCm39) |
R174M |
probably damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,607 (GRCm39) |
I930L |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,760 (GRCm39) |
R214H |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,125,291 (GRCm39) |
H429L |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,603,287 (GRCm39) |
E865G |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,457,345 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,254,626 (GRCm39) |
T14A |
probably damaging |
Het |
| Echs1 |
C |
A |
7: 139,692,982 (GRCm39) |
Q51H |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,683,783 (GRCm39) |
D587V |
probably damaging |
Het |
| Ect2l |
A |
T |
10: 18,016,145 (GRCm39) |
Y666N |
possibly damaging |
Het |
| Epha2 |
G |
A |
4: 141,044,223 (GRCm39) |
G342S |
probably benign |
Het |
| Fbxo33 |
C |
A |
12: 59,252,865 (GRCm39) |
K211N |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,908,983 (GRCm39) |
|
probably null |
Het |
| Fen1 |
A |
G |
19: 10,178,051 (GRCm39) |
V131A |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,892,092 (GRCm38) |
E587G |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,477 (GRCm39) |
T206A |
possibly damaging |
Het |
| Fut1 |
A |
G |
7: 45,268,730 (GRCm39) |
E228G |
possibly damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,560 (GRCm39) |
F379L |
probably damaging |
Het |
| Gcnt2 |
A |
C |
13: 41,014,717 (GRCm39) |
E296A |
probably damaging |
Het |
| Gm7145 |
T |
A |
1: 117,913,870 (GRCm39) |
C251S |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,059,417 (GRCm39) |
P810L |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,366,726 (GRCm39) |
L87M |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,036,427 (GRCm39) |
S1122G |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 63,012,570 (GRCm39) |
D46V |
probably damaging |
Het |
| Kcnn3 |
T |
G |
3: 89,552,830 (GRCm39) |
Y511* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,926,058 (GRCm39) |
I66N |
probably damaging |
Het |
| Klk1b27 |
A |
T |
7: 43,703,974 (GRCm39) |
H39L |
probably benign |
Het |
| Kmo |
C |
T |
1: 175,487,261 (GRCm39) |
T404I |
possibly damaging |
Het |
| Krt222 |
C |
T |
11: 99,125,884 (GRCm39) |
|
probably null |
Het |
| Magi3 |
G |
C |
3: 103,923,013 (GRCm39) |
H1235D |
probably benign |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Med15 |
G |
A |
16: 17,470,609 (GRCm39) |
Q583* |
probably null |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,253,327 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,288,645 (GRCm39) |
F1193L |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,014 (GRCm39) |
M181K |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,104,616 (GRCm39) |
V796D |
probably damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,363 (GRCm39) |
F301S |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,105,485 (GRCm39) |
V832I |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,218,346 (GRCm39) |
S244Y |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,353 (GRCm39) |
C310S |
probably benign |
Het |
| Or2ak7 |
A |
T |
11: 58,574,830 (GRCm39) |
T44S |
possibly damaging |
Het |
| Or4e1 |
T |
A |
14: 52,701,352 (GRCm39) |
Y38F |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,566 (GRCm39) |
T163S |
possibly damaging |
Het |
| Phrf1 |
T |
A |
7: 140,817,586 (GRCm39) |
C132S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,315,015 (GRCm39) |
|
probably null |
Het |
| Polr2a |
G |
A |
11: 69,635,052 (GRCm39) |
T569M |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,458 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sc5d |
T |
C |
9: 42,166,717 (GRCm39) |
E274G |
probably benign |
Het |
| Serpina1d |
A |
T |
12: 103,731,087 (GRCm39) |
|
probably null |
Het |
| Serpinb11 |
T |
A |
1: 107,299,972 (GRCm39) |
I106N |
probably damaging |
Het |
| Setd2 |
G |
A |
9: 110,377,733 (GRCm39) |
R516K |
probably damaging |
Het |
| Sirt2 |
G |
T |
7: 28,487,222 (GRCm39) |
C291F |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,344,044 (GRCm39) |
V314A |
probably damaging |
Het |
| Stat6 |
C |
T |
10: 127,493,581 (GRCm39) |
|
probably null |
Het |
| Strn3 |
A |
G |
12: 51,656,890 (GRCm39) |
V712A |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,233,437 (GRCm39) |
G84C |
possibly damaging |
Het |
| Tnik |
C |
A |
3: 28,704,328 (GRCm39) |
L996I |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,136,817 (GRCm39) |
T129K |
probably damaging |
Het |
| Triml1 |
G |
T |
8: 43,591,793 (GRCm39) |
Y188* |
probably null |
Het |
| Trpc7 |
A |
G |
13: 56,921,705 (GRCm39) |
Y760H |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ubash3a |
A |
T |
17: 31,458,246 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Usp49 |
T |
A |
17: 47,983,827 (GRCm39) |
C61* |
probably null |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,116 (GRCm39) |
V336E |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,324,102 (GRCm39) |
V1135A |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,940,503 (GRCm39) |
V24A |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,705,798 (GRCm39) |
Y426H |
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 |
|
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'- CACTTCCCAAGTTGAGTGTTTC -3'
(R):5'- GTGCCTCAGAAACAATGCAAGG -3'
Sequencing Primer
(F):5'- CTTCCCAAGTTGAGTGTTTCAAAAG -3'
(R):5'- TGCAAGGAGAAAGTCGGATTTTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation