Incidental Mutation 'R6890:Mtss1'
| ID |
537172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtss1
|
| Ensembl Gene |
ENSMUSG00000022353 |
| Gene Name |
MTSS I-BAR domain containing 1 |
| Synonyms |
2310003N14Rik, D130001D01Rik, MIM |
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58823508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 286
(S286R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080371]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080371
AA Change: S286R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: S286R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
241 |
2.1e-107 |
PFAM |
|
low complexity region
|
257 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
628 |
N/A |
INTRINSIC |
|
WH2
|
731 |
748 |
1.36e-2 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0992 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gm49368 |
A |
G |
7: 127,680,901 (GRCm39) |
R277G |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Mtss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Mtss1
|
APN |
15 |
58,823,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00693:Mtss1
|
APN |
15 |
58,815,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00817:Mtss1
|
APN |
15 |
58,815,481 (GRCm39) |
splice site |
probably null |
|
|
IGL00923:Mtss1
|
APN |
15 |
58,815,348 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01704:Mtss1
|
APN |
15 |
58,926,932 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02257:Mtss1
|
APN |
15 |
58,828,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Mtss1
|
APN |
15 |
58,815,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02829:Mtss1
|
APN |
15 |
58,930,277 (GRCm39) |
splice site |
probably benign |
|
|
IGL02838:Mtss1
|
APN |
15 |
58,953,364 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02968:Mtss1
|
APN |
15 |
58,828,364 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03012:Mtss1
|
APN |
15 |
58,930,249 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03022:Mtss1
|
APN |
15 |
58,825,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Mtss1
|
UTSW |
15 |
58,815,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Mtss1
|
UTSW |
15 |
58,817,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mtss1
|
UTSW |
15 |
58,828,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0655:Mtss1
|
UTSW |
15 |
58,953,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Mtss1
|
UTSW |
15 |
58,842,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1428:Mtss1
|
UTSW |
15 |
58,819,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1503:Mtss1
|
UTSW |
15 |
58,823,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Mtss1
|
UTSW |
15 |
58,815,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Mtss1
|
UTSW |
15 |
58,930,249 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3689:Mtss1
|
UTSW |
15 |
58,825,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Mtss1
|
UTSW |
15 |
58,953,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Mtss1
|
UTSW |
15 |
58,815,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Mtss1
|
UTSW |
15 |
58,815,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Mtss1
|
UTSW |
15 |
58,842,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Mtss1
|
UTSW |
15 |
58,815,373 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6253:Mtss1
|
UTSW |
15 |
58,815,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6767:Mtss1
|
UTSW |
15 |
58,825,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Mtss1
|
UTSW |
15 |
58,820,183 (GRCm39) |
intron |
probably benign |
|
|
R7502:Mtss1
|
UTSW |
15 |
58,820,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7722:Mtss1
|
UTSW |
15 |
58,926,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Mtss1
|
UTSW |
15 |
58,842,858 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7888:Mtss1
|
UTSW |
15 |
58,844,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Mtss1
|
UTSW |
15 |
58,826,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Mtss1
|
UTSW |
15 |
58,926,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mtss1
|
UTSW |
15 |
58,817,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCTGGTTGGCAGCTTC -3'
(R):5'- AGTATAGGCTCTTGCATGCTAAG -3'
Sequencing Primer
(F):5'- GCAGCTTCAGGTGGCATG -3'
(R):5'- TTGCATGCTAAGACTGCCACG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation