Incidental Mutation 'R4526:Ssu2'
| ID |
334442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssu2
|
| Ensembl Gene |
ENSMUSG00000034387 |
| Gene Name |
ssu-2 homolog |
| Synonyms |
D630042P16Rik |
| MMRRC Submission |
041591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112336285-112364984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112359383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060847]
|
| AlphaFold |
Q8C3L1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060847
AA Change: V79A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: V79A
| 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: ENSMUST00000143134
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,535 (GRCm39) |
R178C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
C |
A |
17: 56,092,016 (GRCm39) |
S92* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,632,374 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Crebzf |
A |
C |
7: 90,092,968 (GRCm39) |
E16A |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,022,778 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,007,955 (GRCm39) |
D2151Y |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,888,216 (GRCm39) |
K544E |
probably damaging |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Lcn9 |
A |
C |
2: 25,714,520 (GRCm39) |
K128T |
possibly damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,844 (GRCm39) |
E164G |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,544,373 (GRCm39) |
|
probably null |
Het |
| Ly75 |
G |
A |
2: 60,161,117 (GRCm39) |
T900M |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,104 (GRCm39) |
I74F |
possibly damaging |
Het |
| Myh10 |
C |
T |
11: 68,705,875 (GRCm39) |
T2007I |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,978 (GRCm39) |
S937P |
probably damaging |
Het |
| Oas1b |
T |
A |
5: 120,960,167 (GRCm39) |
|
probably null |
Het |
| Or4x6 |
T |
C |
2: 89,949,016 (GRCm39) |
K309E |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,753 (GRCm39) |
T275A |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,339 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,722,841 (GRCm39) |
P297S |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,286,130 (GRCm39) |
S102P |
probably damaging |
Het |
| Plvap |
G |
A |
8: 71,960,415 (GRCm39) |
R334W |
probably damaging |
Het |
| Polr2b |
T |
G |
5: 77,474,561 (GRCm39) |
V466G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,335 (GRCm39) |
I246T |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,301,113 (GRCm39) |
K281N |
probably damaging |
Het |
| Scamp4 |
T |
C |
10: 80,446,891 (GRCm39) |
F108S |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,736,595 (GRCm39) |
L490M |
probably damaging |
Het |
| Stard7 |
A |
G |
2: 127,139,128 (GRCm39) |
S347G |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,145 (GRCm39) |
V860A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,667 (GRCm39) |
T677A |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,284 (GRCm39) |
H1762Q |
probably benign |
Het |
| Zmynd8 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 165,649,527 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,935,328 (GRCm39) |
Y59H |
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 |
|
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 |
|
|
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'- AGAGGCTGCTTGCATACACC -3'
(R):5'- TGGATTCACCCCTTGCTAGC -3'
Sequencing Primer
(F):5'- TGCTTGCATACACCCCCAGG -3'
(R):5'- CCACAGCTGGATGGTCTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation