Incidental Mutation 'R6133:Ssrp1'
ID |
512266 |
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 |
044280-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6133 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to G
at 84875683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077798
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067
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 |
noncoding transcript
Transcript: ENSMUST00000127069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130729
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067
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: ENSMUST00000139915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145097
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168266
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067
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: ENSMUST00000146530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
A |
G |
8: 89,052,067 (GRCm39) |
T912A |
possibly damaging |
Het |
Akap12 |
G |
T |
10: 4,305,178 (GRCm39) |
G663C |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,758,179 (GRCm39) |
S958P |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,362 (GRCm39) |
I76V |
probably benign |
Het |
Cpxm2 |
G |
A |
7: 131,730,182 (GRCm39) |
P146S |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,313,429 (GRCm39) |
V3047A |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,865,962 (GRCm39) |
V198E |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,685,469 (GRCm39) |
M181K |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,458,814 (GRCm39) |
T3775A |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,723,146 (GRCm39) |
I391V |
probably benign |
Het |
Ebi3 |
T |
A |
17: 56,261,311 (GRCm39) |
V69E |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,886 (GRCm39) |
T1998A |
probably damaging |
Het |
Frmpd1 |
T |
A |
4: 45,284,915 (GRCm39) |
H1245Q |
probably benign |
Het |
Gm7145 |
T |
A |
1: 117,913,618 (GRCm39) |
C167S |
probably damaging |
Het |
Hydin |
C |
T |
8: 111,327,908 (GRCm39) |
T4805I |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnma1 |
C |
T |
14: 24,053,936 (GRCm39) |
M21I |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,574 (GRCm39) |
D621G |
probably benign |
Het |
Lrrc15 |
C |
T |
16: 30,093,054 (GRCm39) |
G95D |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,222,620 (GRCm39) |
L212P |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,581,151 (GRCm39) |
V32A |
probably benign |
Het |
Nsl1 |
T |
C |
1: 190,803,403 (GRCm39) |
L158P |
probably damaging |
Het |
Or51q1c |
A |
T |
7: 103,652,532 (GRCm39) |
T17S |
possibly damaging |
Het |
Or6c202 |
G |
A |
10: 128,996,752 (GRCm39) |
L34F |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pakap |
C |
T |
4: 57,855,516 (GRCm39) |
Q525* |
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,481,805 (GRCm39) |
|
probably null |
Het |
Pramel15 |
T |
C |
4: 144,104,347 (GRCm39) |
R53G |
possibly damaging |
Het |
Ptpn1 |
T |
C |
2: 167,809,716 (GRCm39) |
V108A |
possibly damaging |
Het |
Rad9b |
T |
C |
5: 122,477,831 (GRCm39) |
N182D |
possibly damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,573,448 (GRCm39) |
V1433I |
probably benign |
Het |
Suco |
T |
A |
1: 161,662,752 (GRCm39) |
K560* |
probably null |
Het |
Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,098,100 (GRCm39) |
Y107C |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,188,963 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
T |
7: 142,642,688 (GRCm39) |
D86E |
probably damaging |
Het |
Urb2 |
C |
T |
8: 124,755,300 (GRCm39) |
Q336* |
probably null |
Het |
Vmn2r43 |
A |
G |
7: 8,247,970 (GRCm39) |
F731S |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,359 (GRCm39) |
T118A |
probably benign |
Het |
Zcchc2 |
A |
C |
1: 105,947,609 (GRCm39) |
K117N |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,780,733 (GRCm39) |
Y194H |
probably damaging |
Het |
Zfp763 |
C |
T |
17: 33,237,675 (GRCm39) |
C490Y |
possibly damaging |
Het |
Zmynd19 |
G |
T |
2: 24,848,131 (GRCm39) |
R148L |
possibly 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 |
|
R4060:Ssrp1
|
UTSW |
2 |
84,871,978 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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'- TAGCCTTGGCCTTGGTGATAC -3'
(R):5'- TGCCTTCTTGGAAAGATCTGTGATAC -3'
Sequencing Primer
(F):5'- CAGATGTTCTGTTTAGGACTGAGCC -3'
(R):5'- TACTGATGCCAGGATGATCCGAC -3'
|
Posted On |
2018-04-19 |