Incidental Mutation 'R1508:Albfm1'
| ID |
168056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Albfm1
|
| Ensembl Gene |
ENSMUSG00000070690 |
| Gene Name |
albumin superfamily member 1 |
| Synonyms |
5830473C10Rik, Gm17754, ARG |
| MMRRC Submission |
040869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
90708966-90745730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90729780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 401
(E401G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094615]
[ENSMUST00000200765]
|
| AlphaFold |
F8VQ07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094615
AA Change: E401G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000092198
Gene: ENSMUSG00000070690
AA Change: E401G
| 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
T |
C |
4: 111,513,595 (GRCm39) |
I447T |
probably benign |
Het |
| Alpk2 |
C |
A |
18: 65,482,376 (GRCm39) |
G544V |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,061,481 (GRCm39) |
I3321T |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,093,242 (GRCm39) |
D70N |
probably damaging |
Het |
| Ceacam13 |
T |
A |
7: 17,744,996 (GRCm39) |
V22D |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,756,358 (GRCm39) |
M491T |
probably damaging |
Het |
| Clec4a3 |
A |
T |
6: 122,944,467 (GRCm39) |
N171I |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,634,370 (GRCm39) |
I112V |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,433,557 (GRCm39) |
L1462H |
unknown |
Het |
| Cubn |
A |
G |
2: 13,431,916 (GRCm39) |
F1226L |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,422,250 (GRCm39) |
I77K |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,731,376 (GRCm39) |
T618S |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,211,231 (GRCm39) |
S129T |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,601,503 (GRCm39) |
V272A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,899 (GRCm39) |
F2982L |
probably benign |
Het |
| Gm9476 |
A |
T |
10: 100,142,700 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
A |
G |
2: 38,913,261 (GRCm39) |
M542T |
probably benign |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| Jazf1 |
G |
A |
6: 52,789,166 (GRCm39) |
H103Y |
probably damaging |
Het |
| Klhl12 |
T |
C |
1: 134,416,712 (GRCm39) |
V478A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,330 (GRCm39) |
T220S |
probably damaging |
Het |
| Myocd |
C |
T |
11: 65,075,342 (GRCm39) |
C594Y |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,331,735 (GRCm39) |
E700G |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,332,678 (GRCm39) |
V251A |
possibly damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,930 (GRCm39) |
M197K |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,829,690 (GRCm39) |
Q937R |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,052,029 (GRCm39) |
R147G |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,703,374 (GRCm39) |
Y37N |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,955,654 (GRCm39) |
T522A |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,574,492 (GRCm39) |
N201S |
probably damaging |
Het |
| Prf1 |
A |
G |
10: 61,139,329 (GRCm39) |
D429G |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,148,342 (GRCm39) |
S701P |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,268,341 (GRCm39) |
T1309I |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,487,667 (GRCm39) |
M1647K |
probably damaging |
Het |
| Skint11 |
T |
C |
4: 114,088,963 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
T |
C |
7: 15,874,522 (GRCm39) |
Y257H |
probably benign |
Het |
| Slfn1 |
T |
A |
11: 83,012,181 (GRCm39) |
I99N |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,349,591 (GRCm39) |
T282A |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,461,448 (GRCm39) |
D228V |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,143,072 (GRCm39) |
N1031S |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,107,029 (GRCm39) |
|
probably null |
Het |
| Tdrd1 |
G |
A |
19: 56,839,790 (GRCm39) |
E617K |
probably damaging |
Het |
| Tex15 |
C |
G |
8: 34,066,880 (GRCm39) |
F2103L |
probably damaging |
Het |
| Trim21 |
T |
A |
7: 102,208,783 (GRCm39) |
Q312L |
possibly damaging |
Het |
| Trim56 |
C |
T |
5: 137,142,791 (GRCm39) |
A242T |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,249,873 (GRCm39) |
V467A |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,886 (GRCm39) |
I677L |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,585,511 (GRCm39) |
V26A |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfat |
T |
A |
15: 68,050,600 (GRCm39) |
K807I |
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 |
|
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'- CTCCTGTCTAAGAGCTGAGCTTGC -3'
(R):5'- GGTGGATGAACACTCTGAGCCAATC -3'
Sequencing Primer
(F):5'- TTGTGGCTTTATAACCAtgactg -3'
(R):5'- TGAGCCAATCTTAGCATCAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation