Incidental Mutation 'R5600:Apol11b'
| ID |
438999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apol11b
|
| Ensembl Gene |
ENSMUSG00000091694 |
| Gene Name |
apolipoprotein L 11b |
| Synonyms |
A330102K04Rik |
| MMRRC Submission |
043152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5600 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77518151-77527486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77519288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 264
(M264R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166623]
[ENSMUST00000180949]
[ENSMUST00000181154]
[ENSMUST00000181467]
|
| AlphaFold |
E9PUZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166623
AA Change: M264R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129476
Gene: ENSMUSG00000091694
AA Change: M264R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
30 |
311 |
8.6e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180949
AA Change: M264R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137890
Gene: ENSMUSG00000091694
AA Change: M264R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
29 |
323 |
5.1e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181154
|
| SMART Domains |
Protein: ENSMUSP00000137798
Gene: ENSMUSG00000091694
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
29 |
76 |
5.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181467
|
| SMART Domains |
Protein: ENSMUSP00000138009
Gene: ENSMUSG00000091694
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoL
|
1 |
144 |
2.3e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
| Ccp110 |
G |
A |
7: 118,328,948 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
| Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
| Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,309,220 (GRCm39) |
I53F |
probably benign |
Het |
| Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
| Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
| Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
| Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,963,566 (GRCm39) |
D682G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
| Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
| Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
Het |
| Zfp108 |
A |
G |
7: 23,960,011 (GRCm39) |
S201G |
probably benign |
Het |
|
| Other mutations in Apol11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01295:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01398:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01399:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01400:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01402:Apol11b
|
APN |
15 |
77,522,219 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1815:Apol11b
|
UTSW |
15 |
77,519,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Apol11b
|
UTSW |
15 |
77,522,153 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3917:Apol11b
|
UTSW |
15 |
77,519,504 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4424:Apol11b
|
UTSW |
15 |
77,522,133 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4766:Apol11b
|
UTSW |
15 |
77,519,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4804:Apol11b
|
UTSW |
15 |
77,519,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Apol11b
|
UTSW |
15 |
77,519,793 (GRCm39) |
nonsense |
probably null |
|
|
R5866:Apol11b
|
UTSW |
15 |
77,524,747 (GRCm39) |
missense |
probably null |
0.97 |
|
R5997:Apol11b
|
UTSW |
15 |
77,519,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6213:Apol11b
|
UTSW |
15 |
77,522,200 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6249:Apol11b
|
UTSW |
15 |
77,519,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6364:Apol11b
|
UTSW |
15 |
77,522,258 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6984:Apol11b
|
UTSW |
15 |
77,519,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8064:Apol11b
|
UTSW |
15 |
77,519,417 (GRCm39) |
missense |
not run |
|
|
R9081:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9082:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9105:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9569:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9570:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9571:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9573:Apol11b
|
UTSW |
15 |
77,524,771 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9790:Apol11b
|
UTSW |
15 |
77,519,475 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9791:Apol11b
|
UTSW |
15 |
77,519,475 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1088:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1177:Apol11b
|
UTSW |
15 |
77,522,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGCTCAAATTTCTGAAGGTTC -3'
(R):5'- ACCTGATTGGAGCCAGCATG -3'
Sequencing Primer
(F):5'- GAAGGTTCTCCTCCAGCTTG -3'
(R):5'- ATTGGAGCCAGCATGAATGTTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation