Incidental Mutation 'R4357:Ssrp1'
ID |
324583 |
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 |
041109-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4357 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84871495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 306
(M306L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077798
AA Change: M306L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067 AA Change: M306L
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 benign
Transcript: ENSMUST00000130729
AA Change: M306L
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067 AA Change: M306L
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 |
probably benign
Transcript: ENSMUST00000168266
AA Change: M306L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067 AA Change: M306L
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: ENSMUST00000142359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146530
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
A |
G |
8: 41,248,084 (GRCm39) |
T65A |
possibly damaging |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,171,311 (GRCm39) |
E125G |
probably damaging |
Het |
Atp13a2 |
C |
A |
4: 140,729,215 (GRCm39) |
D599E |
probably benign |
Het |
Brme1 |
T |
C |
8: 84,886,221 (GRCm39) |
L59P |
probably benign |
Het |
Camkv |
G |
A |
9: 107,825,145 (GRCm39) |
G354E |
probably benign |
Het |
Casp8ap2 |
T |
A |
4: 32,646,150 (GRCm39) |
M1741K |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,938,106 (GRCm39) |
D119G |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,775,595 (GRCm39) |
D42V |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,084 (GRCm39) |
I209V |
probably benign |
Het |
Defa27 |
A |
T |
8: 21,805,608 (GRCm39) |
Q16L |
probably null |
Het |
Dnaja3 |
T |
C |
16: 4,517,731 (GRCm39) |
I321T |
probably damaging |
Het |
Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
Eif2ak3 |
T |
A |
6: 70,861,859 (GRCm39) |
I467N |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,089,339 (GRCm39) |
V1105E |
probably damaging |
Het |
Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
Gm10803 |
A |
G |
2: 93,394,350 (GRCm39) |
R41G |
unknown |
Het |
Gm38392 |
A |
T |
3: 88,154,741 (GRCm39) |
I221N |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hsd17b6 |
G |
T |
10: 127,829,637 (GRCm39) |
|
probably null |
Het |
Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
Lats2 |
A |
G |
14: 57,936,840 (GRCm39) |
S550P |
probably damaging |
Het |
Lmo7 |
A |
G |
14: 102,125,091 (GRCm39) |
R406G |
probably null |
Het |
Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,028,755 (GRCm39) |
E326G |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,055,174 (GRCm39) |
I1969N |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
Ngf |
A |
G |
3: 102,427,521 (GRCm39) |
E94G |
probably benign |
Het |
Oas2 |
C |
T |
5: 120,876,734 (GRCm39) |
|
probably null |
Het |
Odf2 |
A |
G |
2: 29,782,256 (GRCm39) |
T75A |
probably benign |
Het |
Or4f60 |
A |
G |
2: 111,902,583 (GRCm39) |
L115P |
probably damaging |
Het |
Or5w11 |
T |
A |
2: 87,458,810 (GRCm39) |
M1K |
probably null |
Het |
Pi4ka |
T |
A |
16: 17,185,303 (GRCm39) |
I266F |
probably benign |
Het |
Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
Psmd2 |
T |
G |
16: 20,475,402 (GRCm39) |
D393E |
probably benign |
Het |
Rabep2 |
A |
G |
7: 126,047,397 (GRCm39) |
I753T |
probably damaging |
Het |
Rara |
A |
C |
11: 98,858,937 (GRCm39) |
I129L |
probably damaging |
Het |
Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Spmip4 |
T |
C |
6: 50,551,190 (GRCm39) |
T420A |
probably benign |
Het |
Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
Sptlc1 |
A |
T |
13: 53,528,068 (GRCm39) |
I32K |
probably damaging |
Het |
Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,919,497 (GRCm39) |
E817G |
probably benign |
Het |
Tiam2 |
C |
A |
17: 3,501,128 (GRCm39) |
D922E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
Ttll12 |
A |
T |
15: 83,465,958 (GRCm39) |
C413S |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,834,350 (GRCm39) |
Y809* |
probably null |
Het |
Vmn2r59 |
G |
A |
7: 41,661,644 (GRCm39) |
P724S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
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 |
|
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'- CTTGGATCCTCCCATCAAGCAG -3'
(R):5'- AGGCTTCTACCAGAGCACAC -3'
Sequencing Primer
(F):5'- GCAGGGCCAAACTCGTTAC -3'
(R):5'- CCCATCACAGGAGAGACTTCTTTAC -3'
|
Posted On |
2015-06-24 |