Incidental Mutation 'R2440:Albfm1'
ID |
249756 |
Institutional Source |
Beutler Lab
|
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 # |
R2440 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90708966-90745730 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 90720548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094615]
[ENSMUST00000200765]
|
AlphaFold |
F8VQ07 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094615
|
SMART Domains |
Protein: ENSMUSP00000092198 Gene: ENSMUSG00000070690
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 null
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
Or12j5 |
T |
A |
7: 140,083,465 (GRCm39) |
K302N |
probably benign |
Het |
Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
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 |
IGL02956:Albfm1
|
APN |
5 |
90,727,497 (GRCm39) |
missense |
possibly damaging |
0.46 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTCTGCACATCATCACC -3'
(R):5'- TGCAAGTGTATCATTGCTTGAG -3'
Sequencing Primer
(F):5'- TGCACATCATCACCAAAGCAGTTG -3'
(R):5'- GCAAGTGTATCATTGCTTGAGAATTC -3'
|
Posted On |
2014-11-12 |