Incidental Mutation 'R6699:Saal1'
| ID |
528684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saal1
|
| Ensembl Gene |
ENSMUSG00000006763 |
| Gene Name |
serum amyloid A-like 1 |
| Synonyms |
5031425D22Rik |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46336581-46360085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46342241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 401
(C401S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143082]
|
| AlphaFold |
Q9D2C2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143082
AA Change: C401S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120658
Gene: ENSMUSG00000006763
AA Change: C401S
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
All alleles(6) : Gene trapped(6) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,110,032 (GRCm39) |
Y556N |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ACAAGGAGCCCTGTGTTTG -3'
(R):5'- GCACTAGTTCAGGTTGGCTG -3'
Sequencing Primer
(F):5'- AGCCCTGTGTTTGCCCGG -3'
(R):5'- CAGACAAACGAATGAATACTTGACTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation