Incidental Mutation 'R3546:AA986860'
| ID |
268189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AA986860
|
| Ensembl Gene |
ENSMUSG00000042510 |
| Gene Name |
expressed sequence AA986860 |
| Synonyms |
|
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130659713-130672359 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 130668926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039323]
|
| AlphaFold |
Q8BI29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039323
|
| SMART Domains |
Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SARG
|
33 |
606 |
1e-235 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190859
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdilt |
C |
A |
7: 119,099,711 (GRCm39) |
E186* |
probably null |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Sult6b1 |
G |
A |
17: 79,214,336 (GRCm39) |
T29I |
probably benign |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ush1g |
T |
A |
11: 115,209,723 (GRCm39) |
H157L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
|
| Other mutations in AA986860 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:AA986860
|
APN |
1 |
130,670,573 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01761:AA986860
|
APN |
1 |
130,670,459 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02557:AA986860
|
APN |
1 |
130,670,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03003:AA986860
|
APN |
1 |
130,671,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:AA986860
|
UTSW |
1 |
130,671,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0326:AA986860
|
UTSW |
1 |
130,670,635 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0483:AA986860
|
UTSW |
1 |
130,671,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0906:AA986860
|
UTSW |
1 |
130,665,430 (GRCm39) |
splice site |
probably benign |
|
|
R0932:AA986860
|
UTSW |
1 |
130,665,430 (GRCm39) |
splice site |
probably null |
|
|
R1522:AA986860
|
UTSW |
1 |
130,670,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:AA986860
|
UTSW |
1 |
130,665,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1874:AA986860
|
UTSW |
1 |
130,670,428 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2083:AA986860
|
UTSW |
1 |
130,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:AA986860
|
UTSW |
1 |
130,670,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2093:AA986860
|
UTSW |
1 |
130,671,041 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3915:AA986860
|
UTSW |
1 |
130,670,344 (GRCm39) |
missense |
probably benign |
|
|
R4679:AA986860
|
UTSW |
1 |
130,670,140 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4703:AA986860
|
UTSW |
1 |
130,671,092 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4890:AA986860
|
UTSW |
1 |
130,668,725 (GRCm39) |
splice site |
probably benign |
|
|
R4988:AA986860
|
UTSW |
1 |
130,670,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:AA986860
|
UTSW |
1 |
130,670,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5327:AA986860
|
UTSW |
1 |
130,668,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:AA986860
|
UTSW |
1 |
130,670,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:AA986860
|
UTSW |
1 |
130,670,768 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5799:AA986860
|
UTSW |
1 |
130,668,908 (GRCm39) |
nonsense |
probably null |
|
|
R6247:AA986860
|
UTSW |
1 |
130,670,780 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7124:AA986860
|
UTSW |
1 |
130,670,624 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7747:AA986860
|
UTSW |
1 |
130,671,284 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1176:AA986860
|
UTSW |
1 |
130,670,728 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTACGACTTCCTGTC -3'
(R):5'- CAGTACATGAGGTAGCCTATCAC -3'
Sequencing Primer
(F):5'- CGACTTCCTGTCTGCTGAAGAAAAG -3'
(R):5'- CATGAGGTAGCCTATCACTTTTTAAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation