Incidental Mutation 'R1273:Saal1'
| ID |
151364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saal1
|
| Ensembl Gene |
ENSMUSG00000006763 |
| Gene Name |
serum amyloid A-like 1 |
| Synonyms |
5031425D22Rik |
| MMRRC Submission |
039339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R1273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46336581-46360085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46342366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 359
(V359E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143082]
|
| AlphaFold |
Q9D2C2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143082
AA Change: V359E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763
AA Change: V359E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
24 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
40 |
455 |
2e-5 |
SMART |
|
low complexity region
|
456 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210791
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6) |
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,217,491 (GRCm39) |
K122E |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,041,359 (GRCm39) |
F2579S |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,460,375 (GRCm39) |
Q934* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,819,752 (GRCm39) |
D5162N |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,444,470 (GRCm39) |
|
probably null |
Het |
| Mkx |
T |
G |
18: 7,002,460 (GRCm39) |
T29P |
probably benign |
Het |
| Nsmce3 |
A |
G |
7: 64,522,339 (GRCm39) |
Y110H |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,980 (GRCm39) |
V134A |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tmprss11a |
T |
A |
5: 86,562,447 (GRCm39) |
R299S |
probably benign |
Het |
|
| Other mutations in Saal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02727:Saal1
|
APN |
7 |
46,339,223 (GRCm39) |
splice site |
probably null |
|
|
IGL03301:Saal1
|
APN |
7 |
46,351,944 (GRCm39) |
splice site |
probably benign |
|
|
G5030:Saal1
|
UTSW |
7 |
46,342,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Saal1
|
UTSW |
7 |
46,342,316 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0765:Saal1
|
UTSW |
7 |
46,349,071 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1086:Saal1
|
UTSW |
7 |
46,338,883 (GRCm39) |
splice site |
probably benign |
|
|
R1466:Saal1
|
UTSW |
7 |
46,351,969 (GRCm39) |
splice site |
probably null |
|
|
R1466:Saal1
|
UTSW |
7 |
46,351,969 (GRCm39) |
splice site |
probably null |
|
|
R1661:Saal1
|
UTSW |
7 |
46,342,224 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1695:Saal1
|
UTSW |
7 |
46,342,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2018:Saal1
|
UTSW |
7 |
46,348,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2058:Saal1
|
UTSW |
7 |
46,348,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Saal1
|
UTSW |
7 |
46,348,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2326:Saal1
|
UTSW |
7 |
46,342,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4182:Saal1
|
UTSW |
7 |
46,360,076 (GRCm39) |
unclassified |
probably benign |
|
|
R4704:Saal1
|
UTSW |
7 |
46,349,164 (GRCm39) |
intron |
probably benign |
|
|
R4831:Saal1
|
UTSW |
7 |
46,349,071 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5270:Saal1
|
UTSW |
7 |
46,351,157 (GRCm39) |
intron |
probably benign |
|
|
R5471:Saal1
|
UTSW |
7 |
46,349,072 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5790:Saal1
|
UTSW |
7 |
46,351,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6699:Saal1
|
UTSW |
7 |
46,342,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Saal1
|
UTSW |
7 |
46,349,064 (GRCm39) |
frame shift |
probably null |
|
|
R6934:Saal1
|
UTSW |
7 |
46,352,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7863:Saal1
|
UTSW |
7 |
46,342,327 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8076:Saal1
|
UTSW |
7 |
46,360,031 (GRCm39) |
missense |
probably benign |
|
|
R9340:Saal1
|
UTSW |
7 |
46,351,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAAGGAGCCCTGTGTTTGCC -3'
(R):5'- CCTTCCATAGTCAAGCCTTGCAGAG -3'
Sequencing Primer
(F):5'- GTTCAGGACATCAGGTAATCTGC -3'
(R):5'- agcactgagcaaaagcaac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation