Incidental Mutation 'IGL01631:Ssu2'
| ID |
93464 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssu2
|
| Ensembl Gene |
ENSMUSG00000034387 |
| Gene Name |
ssu-2 homolog |
| Synonyms |
D630042P16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
112336285-112364984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112351843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 294
(Y294C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060847]
|
| AlphaFold |
Q8C3L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060847
AA Change: Y294C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: Y294C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143134
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Apip |
C |
A |
2: 102,904,194 (GRCm39) |
|
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,069,036 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
A |
16: 95,847,666 (GRCm39) |
E98D |
probably damaging |
Het |
| Cactin |
A |
G |
10: 81,159,058 (GRCm39) |
E303G |
probably benign |
Het |
| Ccdc181 |
T |
A |
1: 164,107,713 (GRCm39) |
I132K |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,608,472 (GRCm39) |
E756G |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,908,106 (GRCm39) |
L217P |
probably damaging |
Het |
| Dmp1 |
G |
T |
5: 104,360,734 (GRCm39) |
R470L |
probably benign |
Het |
| Dnajc9 |
T |
C |
14: 20,438,176 (GRCm39) |
D142G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,661 (GRCm39) |
R84S |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,809,212 (GRCm39) |
|
probably null |
Het |
| Has2 |
A |
G |
15: 56,545,072 (GRCm39) |
S177P |
possibly damaging |
Het |
| Herc6 |
C |
T |
6: 57,581,092 (GRCm39) |
S264F |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,974 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
G |
12: 84,855,920 (GRCm39) |
|
probably null |
Het |
| Map4 |
A |
G |
9: 109,892,201 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
T |
A |
1: 72,491,690 (GRCm39) |
K194* |
probably null |
Het |
| Megf10 |
A |
G |
18: 57,392,869 (GRCm39) |
D422G |
possibly damaging |
Het |
| Mfsd2a |
C |
A |
4: 122,843,100 (GRCm39) |
A394S |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,573,289 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,161,560 (GRCm39) |
Y370H |
possibly damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,129 (GRCm39) |
D189G |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,335 (GRCm39) |
C179S |
probably damaging |
Het |
| Pramel31 |
A |
G |
4: 144,089,015 (GRCm39) |
H111R |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,088,220 (GRCm39) |
H859Y |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,479,399 (GRCm39) |
E1209D |
probably benign |
Het |
| Rhot1 |
C |
T |
11: 80,156,600 (GRCm39) |
T636M |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,163,342 (GRCm39) |
A19S |
possibly damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,101,569 (GRCm39) |
S657L |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,101,570 (GRCm39) |
S657T |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,077,714 (GRCm39) |
T450A |
probably benign |
Het |
| Slc25a1 |
C |
T |
16: 17,743,930 (GRCm39) |
C262Y |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,104,361 (GRCm39) |
S288P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,744 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,724,495 (GRCm39) |
I228M |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,199,496 (GRCm39) |
S483P |
probably damaging |
Het |
| Tsga13 |
T |
C |
6: 30,890,501 (GRCm39) |
K8E |
possibly damaging |
Het |
| Zbbx |
T |
G |
3: 74,985,984 (GRCm39) |
D351A |
probably damaging |
Het |
| Zfp454 |
G |
T |
11: 50,774,562 (GRCm39) |
A37D |
probably benign |
Het |
|
| Other mutations in Ssu2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0931:Ssu2
|
UTSW |
6 |
112,361,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation