Incidental Mutation 'R2323:Albfm1'
ID |
244798 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Albfm1
|
Ensembl Gene |
ENSMUSG00000070690 |
Gene Name |
albumin superfamily member 1 |
Synonyms |
5830473C10Rik, Gm17754, ARG |
MMRRC Submission |
040314-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R2323 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
90708966-90745730 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 90732711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 507
(Y507*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092198
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094615]
|
AlphaFold |
F8VQ07 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094615
AA Change: Y507*
|
SMART Domains |
Protein: ENSMUSP00000092198 Gene: ENSMUSG00000070690 AA Change: Y507*
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
Zscan18 |
T |
C |
7: 12,509,386 (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 |
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 |
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'- GGTGGATCGCACAAGTGATTG -3'
(R):5'- CTGGCTTAAAGTTCTCCACACAAG -3'
Sequencing Primer
(F):5'- CACAAGTGATTGTGTTAGTACCTG -3'
(R):5'- AGCCACCTTGTGCCTAAC -3'
|
Posted On |
2014-10-30 |