Incidental Mutation 'R5551:Ssb'
| ID |
435109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssb
|
| Ensembl Gene |
ENSMUSG00000068882 |
| Gene Name |
small RNA binding exonuclease protection factor La |
| Synonyms |
SS-B, Sjogren syndrome antigen B, La protein, autoantigen La |
| MMRRC Submission |
043108-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69691906-69702190 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69701474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 390
(K390E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060447]
[ENSMUST00000090852]
[ENSMUST00000112260]
[ENSMUST00000132186]
[ENSMUST00000142127]
[ENSMUST00000166411]
|
| AlphaFold |
P32067 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060447
|
| SMART Domains |
Protein: ENSMUSP00000050907
Gene: ENSMUSG00000051730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:Cons_hypoth95
|
21 |
184 |
1.8e-12 |
PFAM |
|
Pfam:UPF0020
|
25 |
170 |
3.8e-8 |
PFAM |
|
Pfam:PrmA
|
35 |
127 |
8.4e-14 |
PFAM |
|
Pfam:MTS
|
36 |
174 |
2.2e-16 |
PFAM |
|
Pfam:Methyltransf_31
|
49 |
199 |
4e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
51 |
171 |
8.1e-11 |
PFAM |
|
Pfam:Methyltransf_15
|
52 |
179 |
1.1e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
52 |
182 |
3.9e-8 |
PFAM |
|
Pfam:Methyltransf_25
|
55 |
171 |
5.2e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
56 |
131 |
8e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090852
AA Change: K390E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088365
Gene: ENSMUSG00000068882
AA Change: K390E
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
11 |
92 |
2.19e-42 |
SMART |
|
RRM
|
112 |
183 |
1.6e-4 |
SMART |
|
Pfam:RRM_3
|
230 |
333 |
2.2e-32 |
PFAM |
|
low complexity region
|
375 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112260
|
| SMART Domains |
Protein: ENSMUSP00000107879
Gene: ENSMUSG00000068882
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
11 |
92 |
2.19e-42 |
SMART |
|
RRM
|
112 |
183 |
1.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132186
|
| SMART Domains |
Protein: ENSMUSP00000119773
Gene: ENSMUSG00000068882
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
11 |
92 |
2.19e-42 |
SMART |
|
Pfam:RRM_1
|
113 |
154 |
2.6e-6 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000132603
AA Change: K204E
|
| SMART Domains |
Protein: ENSMUSP00000115666
Gene: ENSMUSG00000068882
AA Change: K204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_3
|
46 |
149 |
2.5e-33 |
PFAM |
|
low complexity region
|
190 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135459
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142127
|
| SMART Domains |
Protein: ENSMUSP00000121474
Gene: ENSMUSG00000051730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
Pfam:Cons_hypoth95
|
21 |
141 |
8.7e-12 |
PFAM |
|
Pfam:UPF0020
|
24 |
141 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_16
|
31 |
126 |
5e-7 |
PFAM |
|
Pfam:PrmA
|
34 |
127 |
4e-15 |
PFAM |
|
Pfam:MTS
|
35 |
141 |
1.4e-17 |
PFAM |
|
Pfam:Methyltransf_31
|
49 |
142 |
5.2e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
51 |
141 |
1.4e-11 |
PFAM |
|
Pfam:Methyltransf_15
|
52 |
140 |
4.5e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
52 |
140 |
1.3e-14 |
PFAM |
|
Pfam:Methyltransf_25
|
55 |
142 |
4.7e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
56 |
134 |
3.8e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166411
AA Change: K390E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130313
Gene: ENSMUSG00000068882
AA Change: K390E
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
11 |
92 |
2.19e-42 |
SMART |
|
RRM
|
112 |
183 |
1.6e-4 |
SMART |
|
Pfam:RRM_3
|
230 |
333 |
1.9e-35 |
PFAM |
|
low complexity region
|
375 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149283
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos, possible before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
| Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
| Acox1 |
A |
G |
11: 116,080,317 (GRCm39) |
S29P |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,634 (GRCm39) |
I405T |
probably benign |
Het |
| Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
| Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
| Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
| Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
| Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
C |
7: 125,419,249 (GRCm39) |
F472S |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
| Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,902,497 (GRCm39) |
E250K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
| Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
| Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
| Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,948,858 (GRCm39) |
F442L |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
| Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
| Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
| Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
| Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
| Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
probably benign |
Het |
|
| Other mutations in Ssb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Ssb
|
APN |
2 |
69,696,606 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00940:Ssb
|
APN |
2 |
69,701,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00941:Ssb
|
APN |
2 |
69,701,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01834:Ssb
|
APN |
2 |
69,701,147 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0713:Ssb
|
UTSW |
2 |
69,697,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0716:Ssb
|
UTSW |
2 |
69,697,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0751:Ssb
|
UTSW |
2 |
69,700,909 (GRCm39) |
missense |
probably benign |
|
|
R1139:Ssb
|
UTSW |
2 |
69,696,920 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1928:Ssb
|
UTSW |
2 |
69,697,901 (GRCm39) |
splice site |
probably null |
|
|
R2037:Ssb
|
UTSW |
2 |
69,699,163 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3968:Ssb
|
UTSW |
2 |
69,697,793 (GRCm39) |
splice site |
probably benign |
|
|
R4674:Ssb
|
UTSW |
2 |
69,699,194 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5039:Ssb
|
UTSW |
2 |
69,696,581 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6102:Ssb
|
UTSW |
2 |
69,701,552 (GRCm39) |
makesense |
probably null |
|
|
R7126:Ssb
|
UTSW |
2 |
69,696,845 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7448:Ssb
|
UTSW |
2 |
69,693,624 (GRCm39) |
missense |
probably benign |
|
|
R7590:Ssb
|
UTSW |
2 |
69,697,634 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9499:Ssb
|
UTSW |
2 |
69,696,982 (GRCm39) |
missense |
probably benign |
|
|
R9551:Ssb
|
UTSW |
2 |
69,696,982 (GRCm39) |
missense |
probably benign |
|
|
R9652:Ssb
|
UTSW |
2 |
69,700,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Ssb
|
UTSW |
2 |
69,697,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCTTGTATTGTTTCACAAGTG -3'
(R):5'- TTATACAGGTGGACATCGAAGTGG -3'
Sequencing Primer
(F):5'- CTTGTATTGTTTCACAAGTGAGAGG -3'
(R):5'- TCGAAGTGGACCTAATTCGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation