Incidental Mutation 'R5082:Mtss1'
ID |
387215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtss1
|
Ensembl Gene |
ENSMUSG00000022353 |
Gene Name |
MTSS I-BAR domain containing 1 |
Synonyms |
2310003N14Rik, D130001D01Rik, MIM |
MMRRC Submission |
042671-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.835)
|
Stock # |
R5082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58842868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 115
(W115R)
|
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: W115R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079239 Gene: ENSMUSG00000022353 AA Change: W115R
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 |
noncoding transcript
Transcript: ENSMUST00000226976
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227290
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228365
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
Entpd1 |
A |
G |
19: 40,713,473 (GRCm39) |
|
probably null |
Het |
Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
Exoc3l4 |
A |
G |
12: 111,394,424 (GRCm39) |
S515G |
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
Irak2 |
T |
C |
6: 113,649,805 (GRCm39) |
F147L |
probably damaging |
Het |
Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
Nectin2 |
A |
T |
7: 19,472,049 (GRCm39) |
D113E |
probably damaging |
Het |
Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
Rai1 |
G |
A |
11: 60,076,745 (GRCm39) |
E270K |
possibly damaging |
Het |
Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
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 |
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 |
R6890:Mtss1
|
UTSW |
15 |
58,823,508 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAGCTCGCTGAAGTTCTCCAG -3'
(R):5'- GTCTTGACCGCTAAGTGTAAATCC -3'
Sequencing Primer
(F):5'- TTCTCCAGGAACGTGGCTC -3'
(R):5'- CCGCTAAGTGTAAATCCTTTGGGAC -3'
|
Posted On |
2016-06-06 |