Incidental Mutation 'R5571:Ssrp1'
ID |
435654 |
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 |
044395-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5571 (G1)
|
Quality Score |
121 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 84874669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 496
(D496E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077798
AA Change: D496E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067 AA Change: D496E
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 damaging
Transcript: ENSMUST00000130729
AA Change: D496E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067 AA Change: D496E
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 |
probably damaging
Transcript: ENSMUST00000168266
AA Change: D496E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067 AA Change: D496E
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145097
|
Meta Mutation Damage Score |
0.1147 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
Validation Efficiency |
100% (59/59) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
T |
3: 59,784,640 (GRCm39) |
H371L |
probably damaging |
Het |
Atad5 |
T |
C |
11: 80,002,382 (GRCm39) |
V1058A |
probably benign |
Het |
Baiap2l2 |
T |
C |
15: 79,155,783 (GRCm39) |
H97R |
probably damaging |
Het |
Bax |
A |
G |
7: 45,111,315 (GRCm39) |
S184P |
probably damaging |
Het |
Bsph1 |
T |
G |
7: 13,184,840 (GRCm39) |
M1R |
probably null |
Het |
Cbln2 |
A |
G |
18: 86,731,273 (GRCm39) |
D27G |
probably benign |
Het |
Cntnap3 |
G |
A |
13: 65,051,572 (GRCm39) |
A28V |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
Dhrs3 |
T |
G |
4: 144,620,134 (GRCm39) |
I17S |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,527,418 (GRCm39) |
|
probably benign |
Het |
Epb41 |
T |
C |
4: 131,664,717 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,064,423 (GRCm39) |
E4793V |
probably damaging |
Het |
Fbxw22 |
T |
G |
9: 109,232,156 (GRCm39) |
K80N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,855,994 (GRCm39) |
D1927G |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,763,724 (GRCm39) |
I639V |
possibly damaging |
Het |
Folh1 |
T |
C |
7: 86,383,328 (GRCm39) |
Y473C |
probably damaging |
Het |
Foxb2 |
T |
A |
19: 16,850,131 (GRCm39) |
M292L |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,605,265 (GRCm39) |
S41P |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,101,704 (GRCm39) |
|
probably null |
Het |
Gp6 |
G |
T |
7: 4,371,899 (GRCm39) |
A302D |
probably damaging |
Het |
Hmgcr |
A |
T |
13: 96,803,171 (GRCm39) |
M8K |
probably benign |
Het |
Itpripl2 |
C |
T |
7: 118,089,092 (GRCm39) |
R489Q |
probably damaging |
Het |
Kmo |
T |
C |
1: 175,474,760 (GRCm39) |
V175A |
possibly damaging |
Het |
Lce1i |
C |
T |
3: 92,684,988 (GRCm39) |
G63S |
unknown |
Het |
Lrp1b |
T |
C |
2: 41,298,354 (GRCm39) |
Q155R |
probably damaging |
Het |
Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
Neto2 |
C |
T |
8: 86,367,173 (GRCm39) |
D524N |
probably damaging |
Het |
Oga |
T |
C |
19: 45,765,445 (GRCm39) |
T121A |
probably benign |
Het |
Or1j10 |
A |
G |
2: 36,267,129 (GRCm39) |
T114A |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,877 (GRCm39) |
F117I |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,824 (GRCm39) |
I278T |
possibly damaging |
Het |
Or5h17 |
A |
T |
16: 58,820,569 (GRCm39) |
I174L |
probably benign |
Het |
Ppp4r1 |
C |
T |
17: 66,110,856 (GRCm39) |
Q21* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,570,334 (GRCm39) |
T4930S |
possibly damaging |
Het |
Scart2 |
T |
A |
7: 139,829,036 (GRCm39) |
C232S |
probably damaging |
Het |
Siae |
G |
A |
9: 37,528,219 (GRCm39) |
G64D |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,252,282 (GRCm39) |
M10V |
possibly damaging |
Het |
Steap2 |
A |
G |
5: 5,725,912 (GRCm39) |
S371P |
probably damaging |
Het |
Taf6l |
G |
A |
19: 8,761,294 (GRCm39) |
R24W |
probably damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,039,555 (GRCm39) |
Q118R |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,241,602 (GRCm39) |
G1001E |
possibly damaging |
Het |
Tm2d3 |
A |
G |
7: 65,348,872 (GRCm39) |
N184D |
probably damaging |
Het |
Tmprss2 |
A |
T |
16: 97,392,071 (GRCm39) |
W131R |
probably null |
Het |
Ube2d2a |
A |
G |
18: 35,903,531 (GRCm39) |
|
probably benign |
Het |
Unc13d |
A |
G |
11: 115,954,480 (GRCm39) |
Y1043H |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,407,975 (GRCm39) |
I2600K |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,168 (GRCm39) |
Y218C |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,950,106 (GRCm39) |
Y247C |
probably damaging |
Het |
Wdr59 |
A |
T |
8: 112,192,463 (GRCm39) |
N699K |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,951,402 (GRCm39) |
V579A |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,682,623 (GRCm39) |
Q3354L |
unknown |
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 |
|
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'- AATAACCTTTCGTGGTGGCCG -3'
(R):5'- CCAACAGCATCTACTGGTAGTG -3'
Sequencing Primer
(F):5'- CTTTGAGAAGGGATGTTGAAGCCATC -3'
(R):5'- CAGCATCTACTGGTAGTGAACAG -3'
|
Posted On |
2016-10-24 |