Incidental Mutation 'R4060:Ssrp1'
ID |
315805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssrp1
|
Ensembl Gene |
ENSMUSG00000027067 |
Gene Name |
structure specific recognition protein 1 |
Synonyms |
Hmgox, Hmgi-rs3, Hmg1-rs1, T160 |
MMRRC Submission |
041618-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4060 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84871978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 401
(Y401D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077798
AA Change: Y401D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067 AA Change: Y401D
Domain | Start | End | E-Value | Type |
Pfam:SSrecog
|
74 |
285 |
1.7e-105 |
PFAM |
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
HMG
|
546 |
616 |
1.9e-27 |
SMART |
low complexity region
|
621 |
691 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111613
|
SMART Domains |
Protein: ENSMUSP00000107240 Gene: ENSMUSG00000027071
Domain | Start | End | E-Value | Type |
Pfam:P2X_receptor
|
8 |
372 |
4.7e-162 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127069
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000130729
AA Change: Y401D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067 AA Change: Y401D
Domain | Start | End | E-Value | Type |
Pfam:SSrecog
|
74 |
285 |
5.7e-106 |
PFAM |
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
HMG
|
546 |
616 |
1.9e-27 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142359
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168266
AA Change: Y401D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067 AA Change: Y401D
Domain | Start | End | E-Value | Type |
Pfam:SSrecog
|
75 |
284 |
8.8e-91 |
PFAM |
Rtt106
|
338 |
428 |
4.76e-41 |
SMART |
low complexity region
|
469 |
481 |
N/A |
INTRINSIC |
low complexity region
|
486 |
514 |
N/A |
INTRINSIC |
low complexity region
|
521 |
542 |
N/A |
INTRINSIC |
HMG
|
546 |
616 |
1.9e-27 |
SMART |
low complexity region
|
621 |
691 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145097
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146530
|
Meta Mutation Damage Score |
0.8006 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (41/43) |
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 a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] PHENOTYPE: Disruption of this gene is lethal resulting in death at some point between implantation and E5.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,848,027 (GRCm39) |
M756K |
probably benign |
Het |
Cd44 |
T |
C |
2: 102,731,687 (GRCm39) |
D2G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,556,224 (GRCm39) |
I681V |
probably benign |
Het |
Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
Cfh |
T |
C |
1: 140,047,664 (GRCm39) |
I488M |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,453,634 (GRCm39) |
L346F |
probably damaging |
Het |
Creb3l2 |
T |
C |
6: 37,311,484 (GRCm39) |
H435R |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,675,932 (GRCm39) |
|
probably benign |
Het |
Fam162a |
C |
T |
16: 35,864,451 (GRCm39) |
R38K |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Foxo1 |
A |
G |
3: 52,252,583 (GRCm39) |
R249G |
probably damaging |
Het |
Grm6 |
A |
G |
11: 50,744,051 (GRCm39) |
E174G |
probably damaging |
Het |
Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
Hypk |
A |
G |
2: 121,284,160 (GRCm39) |
|
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,429,143 (GRCm39) |
T932A |
possibly damaging |
Het |
Igfbp1 |
C |
A |
11: 7,148,091 (GRCm39) |
P45T |
probably damaging |
Het |
Ik |
A |
G |
18: 36,881,943 (GRCm39) |
K142E |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,792,348 (GRCm39) |
L27P |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Or13a20 |
T |
C |
7: 140,232,033 (GRCm39) |
I47T |
probably damaging |
Het |
Or1j14 |
A |
G |
2: 36,417,426 (GRCm39) |
M1V |
probably null |
Het |
Or7g19 |
T |
C |
9: 18,856,346 (GRCm39) |
V134A |
probably benign |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,639,217 (GRCm39) |
E581G |
probably damaging |
Het |
Rnf146 |
T |
C |
10: 29,223,363 (GRCm39) |
I174M |
probably damaging |
Het |
Serpinb9g |
G |
A |
13: 33,679,089 (GRCm39) |
V320I |
probably benign |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Slc23a3 |
T |
G |
1: 75,109,964 (GRCm39) |
|
probably benign |
Het |
Tas2r109 |
A |
T |
6: 132,957,148 (GRCm39) |
W261R |
probably damaging |
Het |
Tas2r144 |
T |
C |
6: 42,192,563 (GRCm39) |
V101A |
possibly damaging |
Het |
Tead1 |
T |
A |
7: 112,475,269 (GRCm39) |
|
probably null |
Het |
Tiam2 |
A |
G |
17: 3,479,255 (GRCm39) |
S663G |
probably benign |
Het |
Trbv20 |
T |
G |
6: 41,165,195 (GRCm39) |
|
probably benign |
Het |
Tspan9 |
T |
C |
6: 128,011,135 (GRCm39) |
I19M |
probably benign |
Het |
Ttbk2 |
T |
A |
2: 120,579,465 (GRCm39) |
E552D |
probably benign |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
|
Other mutations in Ssrp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01636:Ssrp1
|
APN |
2 |
84,871,443 (GRCm39) |
splice site |
probably benign |
|
IGL01935:Ssrp1
|
APN |
2 |
84,877,056 (GRCm39) |
makesense |
probably null |
|
IGL02226:Ssrp1
|
APN |
2 |
84,870,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02793:Ssrp1
|
APN |
2 |
84,871,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02875:Ssrp1
|
APN |
2 |
84,871,264 (GRCm39) |
missense |
probably damaging |
1.00 |
Dickcissel
|
UTSW |
2 |
84,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
Meadowlark
|
UTSW |
2 |
84,871,450 (GRCm39) |
critical splice acceptor site |
probably null |
|
PIT4131001:Ssrp1
|
UTSW |
2 |
84,868,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R0313:Ssrp1
|
UTSW |
2 |
84,871,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0363:Ssrp1
|
UTSW |
2 |
84,871,018 (GRCm39) |
missense |
probably damaging |
0.99 |
R1234:Ssrp1
|
UTSW |
2 |
84,872,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Ssrp1
|
UTSW |
2 |
84,871,529 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1713:Ssrp1
|
UTSW |
2 |
84,871,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R2049:Ssrp1
|
UTSW |
2 |
84,871,771 (GRCm39) |
splice site |
probably benign |
|
R2113:Ssrp1
|
UTSW |
2 |
84,873,350 (GRCm39) |
splice site |
probably null |
|
R2291:Ssrp1
|
UTSW |
2 |
84,872,660 (GRCm39) |
critical splice donor site |
probably null |
|
R2471:Ssrp1
|
UTSW |
2 |
84,872,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2965:Ssrp1
|
UTSW |
2 |
84,871,930 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3552:Ssrp1
|
UTSW |
2 |
84,874,736 (GRCm39) |
missense |
probably benign |
|
R4075:Ssrp1
|
UTSW |
2 |
84,875,912 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4131:Ssrp1
|
UTSW |
2 |
84,874,791 (GRCm39) |
missense |
probably null |
0.28 |
R4326:Ssrp1
|
UTSW |
2 |
84,870,561 (GRCm39) |
intron |
probably benign |
|
R4357:Ssrp1
|
UTSW |
2 |
84,871,495 (GRCm39) |
missense |
probably benign |
0.22 |
R4400:Ssrp1
|
UTSW |
2 |
84,868,285 (GRCm39) |
missense |
probably damaging |
0.97 |
R4797:Ssrp1
|
UTSW |
2 |
84,876,066 (GRCm39) |
nonsense |
probably null |
|
R5293:Ssrp1
|
UTSW |
2 |
84,872,596 (GRCm39) |
nonsense |
probably null |
|
R5571:Ssrp1
|
UTSW |
2 |
84,874,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R5592:Ssrp1
|
UTSW |
2 |
84,875,863 (GRCm39) |
missense |
probably benign |
0.00 |
R5743:Ssrp1
|
UTSW |
2 |
84,871,512 (GRCm39) |
nonsense |
probably null |
|
R5991:Ssrp1
|
UTSW |
2 |
84,872,640 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6019:Ssrp1
|
UTSW |
2 |
84,875,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Ssrp1
|
UTSW |
2 |
84,875,683 (GRCm39) |
intron |
probably benign |
|
R6157:Ssrp1
|
UTSW |
2 |
84,871,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R6225:Ssrp1
|
UTSW |
2 |
84,873,158 (GRCm39) |
missense |
probably benign |
0.02 |
R6551:Ssrp1
|
UTSW |
2 |
84,871,450 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6886:Ssrp1
|
UTSW |
2 |
84,870,280 (GRCm39) |
missense |
probably benign |
0.04 |
R7189:Ssrp1
|
UTSW |
2 |
84,875,906 (GRCm39) |
missense |
probably benign |
0.00 |
R7681:Ssrp1
|
UTSW |
2 |
84,876,092 (GRCm39) |
missense |
probably benign |
|
R7789:Ssrp1
|
UTSW |
2 |
84,871,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R9074:Ssrp1
|
UTSW |
2 |
84,875,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Ssrp1
|
UTSW |
2 |
84,870,606 (GRCm39) |
splice site |
probably benign |
|
R9467:Ssrp1
|
UTSW |
2 |
84,872,610 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Ssrp1
|
UTSW |
2 |
84,875,819 (GRCm39) |
missense |
probably benign |
0.06 |
Z1088:Ssrp1
|
UTSW |
2 |
84,870,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTATAAGGCCAGCTCAGGAC -3'
(R):5'- GGCACAGAGCTCATTCCAAG -3'
Sequencing Primer
(F):5'- AGGACTCCTGTACCCACTG -3'
(R):5'- TATTCCCACCATAGAGGAAATGGAG -3'
|
Posted On |
2015-05-15 |