Incidental Mutation 'R0021:Saal1'
ID |
64764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Saal1
|
Ensembl Gene |
ENSMUSG00000006763 |
Gene Name |
serum amyloid A-like 1 |
Synonyms |
5031425D22Rik |
MMRRC Submission |
038316-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R0021 (G1)
|
Quality Score |
139 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46336581-46360085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46342316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 376
(S376T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143082]
|
AlphaFold |
Q9D2C2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143082
AA Change: S376T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120658 Gene: ENSMUSG00000006763 AA Change: S376T
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
|
Meta Mutation Damage Score |
0.0781 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
All alleles(6) : Gene trapped(6) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
probably damaging |
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 |
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 |
|
R1273:Saal1
|
UTSW |
7 |
46,342,366 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CATAGTCAAGCCTTGCAGAGGAGC -3'
Sequencing Primer
(F):5'- GTTTCAAGTTCAGGACATCAGG -3'
(R):5'- agcactgagcaaaagcaac -3'
|
Posted On |
2013-08-06 |