Incidental Mutation 'R2326:Saal1'
| ID |
244915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saal1
|
| Ensembl Gene |
ENSMUSG00000006763 |
| Gene Name |
serum amyloid A-like 1 |
| Synonyms |
5031425D22Rik |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46336581-46360085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46342235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 403
(F403L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143082]
|
| AlphaFold |
Q9D2C2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143082
AA Change: F403L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763
AA Change: F403L
| 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 |
0.0584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
All alleles(6) : Gene trapped(6) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly 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 |
|
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 |
|
|
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 |
|
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'- CAACAAGGAGCCCTGTGTTTG -3'
(R):5'- CACTAGTTCAGGTTGGCTGG -3'
Sequencing Primer
(F):5'- AGCCCTGTGTTTGCCCGG -3'
(R):5'- CCCTTGATTTCATGCAGGGGATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation