Incidental Mutation 'R5783:Mtss1'
| ID |
447883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtss1
|
| Ensembl Gene |
ENSMUSG00000022353 |
| Gene Name |
MTSS I-BAR domain containing 1 |
| Synonyms |
2310003N14Rik, D130001D01Rik, MIM |
| MMRRC Submission |
043380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R5783 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58815373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 729
(S729N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022980]
[ENSMUST00000080371]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022980
|
| SMART Domains |
Protein: ENSMUSP00000022980
Gene: ENSMUSG00000022354
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
13 |
73 |
1.2e-11 |
PFAM |
|
Pfam:Complex1_LYR_1
|
14 |
74 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080371
AA Change: S729N
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: S729N
| 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: ENSMUST00000226393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228067
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
T |
A |
11: 23,468,787 (GRCm39) |
Y48F |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,051,022 (GRCm39) |
D1082G |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,730,468 (GRCm39) |
A236T |
possibly damaging |
Het |
| Ccdc88b |
A |
C |
19: 6,831,284 (GRCm39) |
C553G |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,967,341 (GRCm39) |
D2161G |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,933,723 (GRCm39) |
N618K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,914,661 (GRCm39) |
N118D |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,493,843 (GRCm39) |
I1263S |
probably damaging |
Het |
| Dnaaf9 |
A |
C |
2: 130,581,003 (GRCm39) |
F582L |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,183,040 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dpp9 |
T |
C |
17: 56,518,655 (GRCm39) |
K50E |
probably damaging |
Het |
| Fen1 |
G |
T |
19: 10,178,194 (GRCm39) |
Y83* |
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,793,632 (GRCm39) |
I532T |
probably benign |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| Impdh1 |
A |
T |
6: 29,206,342 (GRCm39) |
F140Y |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,188 (GRCm39) |
D420G |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,113,612 (GRCm39) |
V664A |
probably benign |
Het |
| Krt80 |
C |
T |
15: 101,257,360 (GRCm39) |
|
probably null |
Het |
| Lars2 |
T |
G |
9: 123,290,661 (GRCm39) |
M876R |
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,502,827 (GRCm39) |
E266G |
possibly damaging |
Het |
| Mesd |
T |
A |
7: 83,544,883 (GRCm39) |
V120E |
probably damaging |
Het |
| Mogs |
C |
T |
6: 83,095,652 (GRCm39) |
T823I |
probably damaging |
Het |
| Mrgprh |
C |
A |
17: 13,096,333 (GRCm39) |
T191N |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,412,165 (GRCm39) |
E1704* |
probably null |
Het |
| Or2ag13 |
C |
A |
7: 106,472,541 (GRCm39) |
V304F |
probably damaging |
Het |
| Or51m1 |
A |
T |
7: 103,578,149 (GRCm39) |
I40F |
probably damaging |
Het |
| Or8k30 |
T |
C |
2: 86,338,982 (GRCm39) |
Y60H |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,103,644 (GRCm39) |
L216* |
probably null |
Het |
| Pcdha5 |
T |
C |
18: 37,095,534 (GRCm39) |
V681A |
probably benign |
Het |
| Pgap3 |
A |
C |
11: 98,281,290 (GRCm39) |
V190G |
probably benign |
Het |
| Ppp2r5a |
A |
T |
1: 191,086,837 (GRCm39) |
Y373N |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,535,665 (GRCm39) |
L1675P |
probably damaging |
Het |
| Rapgef2 |
T |
G |
3: 78,995,300 (GRCm39) |
I635L |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,995,452 (GRCm39) |
D193G |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,343 (GRCm39) |
V4140I |
probably benign |
Het |
| Scamp5 |
A |
G |
9: 57,353,353 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
T |
4: 59,076,239 (GRCm39) |
L568* |
probably null |
Het |
| Slc41a3 |
T |
C |
6: 90,596,524 (GRCm39) |
I31T |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,701,863 (GRCm39) |
V368A |
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
T |
C |
6: 142,909,340 (GRCm39) |
N52S |
possibly damaging |
Het |
| Svop |
T |
G |
5: 114,202,996 (GRCm39) |
D72A |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,609,810 (GRCm39) |
I153V |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,305,087 (GRCm39) |
S32I |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,959,813 (GRCm39) |
R694S |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,729,187 (GRCm39) |
L15P |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,697,251 (GRCm39) |
L667Q |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,723,434 (GRCm39) |
S241R |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
C |
A |
8: 72,686,308 (GRCm39) |
H213N |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,921,829 (GRCm39) |
G652D |
possibly damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,355,081 (GRCm39) |
L916P |
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 |
|
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'- TGCCTACAAAATCGTTTGCTTG -3'
(R):5'- GGGTGTCAGCAATATACCCTCTTC -3'
Sequencing Primer
(F):5'- GCTTGATTATAGACTGGAATGGATC -3'
(R):5'- AATATACCCTCTTCCTTGTGGAGTGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation