Incidental Mutation 'R0097:Albfm1'
ID |
41153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Albfm1
|
Ensembl Gene |
ENSMUSG00000070690 |
Gene Name |
albumin superfamily member 1 |
Synonyms |
5830473C10Rik, Gm17754, ARG |
MMRRC Submission |
038383-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R0097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
90708966-90745730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90732795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 535
(S535R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094615]
|
AlphaFold |
F8VQ07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094615
AA Change: S535R
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000092198 Gene: ENSMUSG00000070690 AA Change: S535R
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 |
noncoding transcript
Transcript: ENSMUST00000200783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200893
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
Bbs10 |
T |
C |
10: 111,134,705 (GRCm39) |
V41A |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
Cldnd1 |
A |
G |
16: 58,550,078 (GRCm39) |
N87S |
possibly damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,036,102 (GRCm39) |
|
probably benign |
Het |
Cyp2c54 |
G |
T |
19: 40,036,103 (GRCm39) |
|
probably benign |
Het |
Dab2ip |
G |
A |
2: 35,608,928 (GRCm39) |
V629M |
possibly damaging |
Het |
Ddx41 |
A |
T |
13: 55,683,691 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Llgl2 |
T |
A |
11: 115,735,323 (GRCm39) |
Y59* |
probably null |
Het |
Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
Ncam2 |
A |
G |
16: 81,314,425 (GRCm39) |
D467G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
Pign |
G |
A |
1: 105,515,701 (GRCm39) |
|
probably benign |
Het |
Plpp2 |
T |
C |
10: 79,366,371 (GRCm39) |
E91G |
possibly damaging |
Het |
Pnp |
T |
A |
14: 51,188,873 (GRCm39) |
V222D |
probably damaging |
Het |
Pnp2 |
C |
T |
14: 51,200,958 (GRCm39) |
R148C |
probably benign |
Het |
Pramel30 |
T |
C |
4: 144,057,857 (GRCm39) |
S155P |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
Rbbp5 |
T |
A |
1: 132,418,227 (GRCm39) |
H15Q |
possibly damaging |
Het |
Rhox4f |
A |
C |
X: 36,789,122 (GRCm39) |
V15G |
probably benign |
Het |
Rsl1 |
A |
C |
13: 67,329,966 (GRCm39) |
Q138P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
Svs3b |
T |
C |
2: 164,098,159 (GRCm39) |
E54G |
probably damaging |
Het |
T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
Tppp3 |
C |
T |
8: 106,194,554 (GRCm39) |
A149T |
probably benign |
Het |
Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,952,740 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTACTTAGCCGCAAGGGAGGAC -3'
(R):5'- TGCTCTTTATGCAGGAGTTGCATCAG -3'
Sequencing Primer
(F):5'- TCCCCTGGGTTACATACAAGG -3'
(R):5'- AAGCCACCTTGTGCCTAACA -3'
|
Posted On |
2013-05-23 |