Incidental Mutation 'R8295:S100a16'
| ID |
638880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
S100a16
|
| Ensembl Gene |
ENSMUSG00000074457 |
| Gene Name |
S100 calcium binding protein A16 |
| Synonyms |
2300002L21Rik |
| MMRRC Submission |
067714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R8295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
90444561-90450458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90449336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 4
(C4S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098910]
[ENSMUST00000098911]
[ENSMUST00000107331]
[ENSMUST00000107333]
[ENSMUST00000107334]
[ENSMUST00000107335]
[ENSMUST00000150833]
|
| AlphaFold |
Q9D708 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098910
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096509
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
3.7e-7 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098911
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096510
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
3.7e-7 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107331
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102954
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
51 |
2.1e-12 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107333
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102956
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
3.7e-7 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107334
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102957
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
3.7e-7 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107335
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102958
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
3.7e-7 |
PFAM |
|
low complexity region
|
96 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150833
AA Change: C4S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119168
Gene: ENSMUSG00000074457
AA Change: C4S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
8 |
52 |
1.3e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,974,188 (GRCm39) |
I915S |
probably benign |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,788,762 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
T |
G |
13: 4,322,355 (GRCm39) |
D229A |
probably benign |
Het |
| Ankfn1 |
C |
T |
11: 89,302,923 (GRCm39) |
V32M |
probably benign |
Het |
| C7 |
A |
T |
15: 5,018,327 (GRCm39) |
C839S |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,416 (GRCm39) |
D769G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,080,766 (GRCm39) |
D251Y |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,726 (GRCm39) |
P211Q |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,100,600 (GRCm39) |
A703T |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,085,988 (GRCm39) |
L161Q |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,789,959 (GRCm39) |
I1079V |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,262,234 (GRCm39) |
V1104A |
probably benign |
Het |
| H2-Ab1 |
A |
T |
17: 34,483,816 (GRCm39) |
Y59F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,115,914 (GRCm39) |
T772A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,523 (GRCm39) |
V501A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,486,184 (GRCm39) |
T70S |
probably benign |
Het |
| Obox2 |
A |
G |
7: 15,131,247 (GRCm39) |
T118A |
probably benign |
Het |
| Or52ab4 |
C |
T |
7: 102,987,474 (GRCm39) |
T71I |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,916 (GRCm39) |
M88V |
probably benign |
Het |
| Pih1d2 |
C |
T |
9: 50,532,379 (GRCm39) |
H146Y |
probably damaging |
Het |
| Pou2af1 |
C |
T |
9: 51,144,305 (GRCm39) |
S73F |
possibly damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,096 (GRCm39) |
I90L |
probably benign |
Het |
| Sprr1a |
T |
C |
3: 92,391,849 (GRCm39) |
K51E |
possibly damaging |
Het |
| Tmem168 |
A |
T |
6: 13,602,850 (GRCm39) |
M172K |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,565 (GRCm39) |
S1371P |
probably damaging |
Het |
| Trav21-dv12 |
T |
A |
14: 54,113,510 (GRCm39) |
L13* |
probably null |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,101 (GRCm39) |
V5D |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,621 (GRCm39) |
C168R |
probably damaging |
Het |
| Vmn2r90 |
C |
T |
17: 17,948,358 (GRCm39) |
P535S |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,464,764 (GRCm39) |
C503R |
possibly damaging |
Het |
|
| Other mutations in S100a16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0036:S100a16
|
UTSW |
3 |
90,449,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1429:S100a16
|
UTSW |
3 |
90,449,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:S100a16
|
UTSW |
3 |
90,449,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:S100a16
|
UTSW |
3 |
90,449,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5829:S100a16
|
UTSW |
3 |
90,449,454 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6109:S100a16
|
UTSW |
3 |
90,449,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:S100a16
|
UTSW |
3 |
90,449,879 (GRCm39) |
nonsense |
probably null |
|
|
R6495:S100a16
|
UTSW |
3 |
90,449,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGGAACACCTGGATTAGAG -3'
(R):5'- TCACTGAGAGAGCTGTGAGG -3'
Sequencing Primer
(F):5'- GATTAGAGGAGTCACATAGCTCTCC -3'
(R):5'- CTGTGAGGAGAAGAGCAGGCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation