Incidental Mutation 'IGL02956:Albfm1'
| ID |
365123 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Albfm1
|
| Ensembl Gene |
ENSMUSG00000070690 |
| Gene Name |
albumin superfamily member 1 |
| Synonyms |
5830473C10Rik, Gm17754, ARG |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
90708966-90745730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90727497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 372
(I372V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094615]
[ENSMUST00000200765]
|
| AlphaFold |
F8VQ07 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094615
AA Change: I372V
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092198
Gene: ENSMUSG00000070690
AA Change: I372V
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
17 |
207 |
8.87e-26 |
SMART |
|
ALBUMIN
|
214 |
399 |
1.45e-53 |
SMART |
|
ALBUMIN
|
406 |
598 |
7.07e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200765
|
| SMART Domains |
Protein: ENSMUSP00000144527
Gene: ENSMUSG00000070690
| Domain | Start | End | E-Value | Type |
|---|
|
ALBUMIN
|
17 |
207 |
4.3e-28 |
SMART |
|
ALBUMIN
|
214 |
355 |
3.3e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200893
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
| Akna |
G |
T |
4: 63,304,516 (GRCm39) |
T546K |
probably benign |
Het |
| Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
| Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
| Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
| Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
| Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
| Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
C |
17: 36,298,504 (GRCm39) |
I416T |
probably benign |
Het |
| Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
| Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,429 (GRCm39) |
E737G |
possibly damaging |
Het |
| Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
| Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
| Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
| Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,043,973 (GRCm39) |
D494N |
probably benign |
Het |
| Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
| Zfp276 |
T |
C |
8: 123,981,483 (GRCm39) |
L10P |
probably damaging |
Het |
| Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
probably benign |
Het |
|
| Other mutations in Albfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02216:Albfm1
|
APN |
5 |
90,727,438 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02343:Albfm1
|
APN |
5 |
90,727,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02749:Albfm1
|
APN |
5 |
90,719,624 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0097:Albfm1
|
UTSW |
5 |
90,732,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0097:Albfm1
|
UTSW |
5 |
90,732,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0513:Albfm1
|
UTSW |
5 |
90,725,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0551:Albfm1
|
UTSW |
5 |
90,720,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Albfm1
|
UTSW |
5 |
90,729,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1797:Albfm1
|
UTSW |
5 |
90,727,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2205:Albfm1
|
UTSW |
5 |
90,717,421 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2323:Albfm1
|
UTSW |
5 |
90,732,711 (GRCm39) |
nonsense |
probably null |
|
|
R2440:Albfm1
|
UTSW |
5 |
90,720,548 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4074:Albfm1
|
UTSW |
5 |
90,740,727 (GRCm39) |
splice site |
probably null |
|
|
R4211:Albfm1
|
UTSW |
5 |
90,712,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Albfm1
|
UTSW |
5 |
90,720,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Albfm1
|
UTSW |
5 |
90,719,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Albfm1
|
UTSW |
5 |
90,714,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4922:Albfm1
|
UTSW |
5 |
90,727,570 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4923:Albfm1
|
UTSW |
5 |
90,709,158 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5218:Albfm1
|
UTSW |
5 |
90,729,777 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5267:Albfm1
|
UTSW |
5 |
90,732,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5447:Albfm1
|
UTSW |
5 |
90,732,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Albfm1
|
UTSW |
5 |
90,720,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Albfm1
|
UTSW |
5 |
90,719,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Albfm1
|
UTSW |
5 |
90,732,848 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6290:Albfm1
|
UTSW |
5 |
90,740,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6799:Albfm1
|
UTSW |
5 |
90,727,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6923:Albfm1
|
UTSW |
5 |
90,725,652 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7088:Albfm1
|
UTSW |
5 |
90,720,609 (GRCm39) |
nonsense |
probably null |
|
|
R7238:Albfm1
|
UTSW |
5 |
90,727,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Albfm1
|
UTSW |
5 |
90,719,625 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7631:Albfm1
|
UTSW |
5 |
90,727,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Albfm1
|
UTSW |
5 |
90,745,370 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7821:Albfm1
|
UTSW |
5 |
90,740,747 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8041:Albfm1
|
UTSW |
5 |
90,740,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8353:Albfm1
|
UTSW |
5 |
90,714,360 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8453:Albfm1
|
UTSW |
5 |
90,714,360 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8762:Albfm1
|
UTSW |
5 |
90,714,461 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Posted On |
2015-12-18 |
Incidental Mutation