Incidental Mutation 'R0931:Ssu2'
ID |
80877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssu2
|
Ensembl Gene |
ENSMUSG00000034387 |
Gene Name |
ssu-2 homolog |
Synonyms |
D630042P16Rik |
MMRRC Submission |
039075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R0931 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
112336285-112364984 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 112361359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 32
(L32F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060847]
|
AlphaFold |
Q8C3L1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060847
AA Change: L32F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052328 Gene: ENSMUSG00000034387 AA Change: L32F
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
177 |
194 |
6.13e-5 |
PROSPERO |
internal_repeat_1
|
188 |
205 |
6.13e-5 |
PROSPERO |
low complexity region
|
214 |
234 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
probably benign |
Het |
|
Other mutations in Ssu2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01631:Ssu2
|
APN |
6 |
112,351,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01752:Ssu2
|
APN |
6 |
112,352,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Ssu2
|
APN |
6 |
112,359,353 (GRCm39) |
missense |
probably benign |
0.13 |
R0047:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0551:Ssu2
|
UTSW |
6 |
112,357,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1350:Ssu2
|
UTSW |
6 |
112,351,807 (GRCm39) |
nonsense |
probably null |
|
R1512:Ssu2
|
UTSW |
6 |
112,364,959 (GRCm39) |
start codon destroyed |
probably null |
0.91 |
R1908:Ssu2
|
UTSW |
6 |
112,361,388 (GRCm39) |
missense |
probably benign |
0.00 |
R2013:Ssu2
|
UTSW |
6 |
112,360,902 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2915:Ssu2
|
UTSW |
6 |
112,354,566 (GRCm39) |
nonsense |
probably null |
|
R4526:Ssu2
|
UTSW |
6 |
112,359,383 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4782:Ssu2
|
UTSW |
6 |
112,353,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R5099:Ssu2
|
UTSW |
6 |
112,336,585 (GRCm39) |
missense |
probably benign |
0.34 |
R5396:Ssu2
|
UTSW |
6 |
112,357,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R6223:Ssu2
|
UTSW |
6 |
112,353,409 (GRCm39) |
nonsense |
probably null |
|
R6241:Ssu2
|
UTSW |
6 |
112,351,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Ssu2
|
UTSW |
6 |
112,351,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8099:Ssu2
|
UTSW |
6 |
112,353,438 (GRCm39) |
missense |
probably benign |
0.34 |
R8440:Ssu2
|
UTSW |
6 |
112,364,950 (GRCm39) |
missense |
probably benign |
0.01 |
R8712:Ssu2
|
UTSW |
6 |
112,361,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Ssu2
|
UTSW |
6 |
112,359,312 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8872:Ssu2
|
UTSW |
6 |
112,357,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R8972:Ssu2
|
UTSW |
6 |
112,360,898 (GRCm39) |
missense |
probably benign |
|
R9367:Ssu2
|
UTSW |
6 |
112,357,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCTCCAGGACTGAAGACCAAC -3'
(R):5'- AGTCACTGCTGACCCTGCATCATC -3'
Sequencing Primer
(F):5'- aagaggaggaagaggaggag -3'
(R):5'- CTGCATCATCTACCCGGAAG -3'
|
Posted On |
2013-11-07 |