Incidental Mutation 'R4797:Ssrp1'
ID |
369112 |
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 |
042421-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4797 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 84876066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 607
(Y607*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111605]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077798
AA Change: Y607*
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067 AA Change: Y607*
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: ENSMUST00000111605
|
SMART Domains |
Protein: ENSMUSP00000107232 Gene: ENSMUSG00000033955
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
low complexity region
|
496 |
518 |
N/A |
INTRINSIC |
low complexity region
|
739 |
758 |
N/A |
INTRINSIC |
low complexity region
|
954 |
960 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1489 |
N/A |
INTRINSIC |
low complexity region
|
1530 |
1537 |
N/A |
INTRINSIC |
Tankyrase_bdg_C
|
1545 |
1717 |
1.98e-79 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126309
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127069
|
Predicted Effect |
probably null
Transcript: ENSMUST00000130729
AA Change: Y607*
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067 AA Change: Y607*
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: ENSMUST00000139915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145097
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168266
AA Change: Y607*
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067 AA Change: Y607*
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: ENSMUST00000142359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
96% (69/72) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
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 |
|
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 |
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'- AGTCGGATCATCCTGGCATC -3'
(R):5'- GGCATTCAGGGATTTAAGAAGCAC -3'
Sequencing Primer
(F):5'- GGATCATCCTGGCATCAGTATCACAG -3'
(R):5'- TCAGGGATTTAAGAAGCACTACTC -3'
|
Posted On |
2016-02-04 |