Incidental Mutation 'R5743:Ssrp1'
| ID |
445647 |
| 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 |
043353-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5743 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 84871512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 311
(Y311*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
| AlphaFold |
Q08943 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077798
AA Change: Y311*
|
| SMART Domains |
Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: Y311*
| 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 null
Transcript: ENSMUST00000130729
AA Change: Y311*
|
| SMART Domains |
Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: Y311*
| 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 null
Transcript: ENSMUST00000168266
AA Change: Y311*
|
| SMART Domains |
Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: Y311*
| 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: ENSMUST00000145097
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,416,536 (GRCm39) |
|
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,391,629 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
T |
A |
9: 51,728,027 (GRCm39) |
M80K |
probably benign |
Het |
| Arhgap29 |
T |
G |
3: 121,775,560 (GRCm39) |
L37R |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,463,759 (GRCm39) |
P906S |
probably benign |
Het |
| Caskin2 |
T |
A |
11: 115,693,115 (GRCm39) |
N603I |
possibly damaging |
Het |
| Catspere2 |
G |
T |
1: 177,950,328 (GRCm39) |
|
silent |
Het |
| Ccdc159 |
A |
T |
9: 21,840,686 (GRCm39) |
E84D |
probably benign |
Het |
| Ccl1 |
T |
G |
11: 82,067,712 (GRCm39) |
S73R |
possibly damaging |
Het |
| Cdh20 |
G |
T |
1: 110,036,575 (GRCm39) |
C585F |
probably damaging |
Het |
| Cga |
T |
C |
4: 34,904,108 (GRCm39) |
|
probably null |
Het |
| Coq5 |
A |
C |
5: 115,417,941 (GRCm39) |
E57A |
probably benign |
Het |
| Cstf1 |
T |
A |
2: 172,219,753 (GRCm39) |
L288Q |
probably damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,948,815 (GRCm39) |
Q47K |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,420,803 (GRCm39) |
Q539L |
probably benign |
Het |
| Fbxo46 |
C |
A |
7: 18,870,420 (GRCm39) |
D346E |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,407 (GRCm39) |
T1567S |
probably damaging |
Het |
| Glce |
T |
A |
9: 61,977,822 (GRCm39) |
T21S |
probably damaging |
Het |
| Gm19402 |
C |
T |
10: 77,526,516 (GRCm39) |
D26N |
probably damaging |
Het |
| Gm20830 |
A |
G |
Y: 6,916,664 (GRCm39) |
Y152H |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,784 (GRCm39) |
Y1011H |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Il31ra |
G |
T |
13: 112,664,021 (GRCm39) |
T552K |
possibly damaging |
Het |
| Itga2 |
A |
G |
13: 115,021,042 (GRCm39) |
V86A |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,723 (GRCm39) |
N81K |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,221 (GRCm39) |
D3247Y |
probably damaging |
Het |
| Maml3 |
G |
T |
3: 52,011,553 (GRCm39) |
F4L |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,072 (GRCm39) |
H37L |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,339,425 (GRCm39) |
M1V |
probably null |
Het |
| Myom2 |
A |
T |
8: 15,130,914 (GRCm39) |
K283N |
possibly damaging |
Het |
| Nrxn1 |
C |
A |
17: 90,950,652 (GRCm39) |
R509L |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 110,042,736 (GRCm39) |
Y30F |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,363 (GRCm39) |
|
probably null |
Het |
| Or8c13 |
C |
A |
9: 38,092,014 (GRCm39) |
C35F |
probably benign |
Het |
| Or8h8 |
C |
A |
2: 86,753,549 (GRCm39) |
G109V |
probably benign |
Het |
| Orc6 |
A |
T |
8: 86,029,585 (GRCm39) |
Q43L |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,692,862 (GRCm39) |
S874L |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,124,160 (GRCm39) |
D670G |
probably damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,859 (GRCm39) |
I563F |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,511 (GRCm39) |
S373T |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,841,836 (GRCm39) |
D190G |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,314 (GRCm39) |
Y280N |
probably damaging |
Het |
| Rasl10a |
T |
A |
11: 5,009,519 (GRCm39) |
D102E |
probably benign |
Het |
| Rgs1 |
T |
C |
1: 144,121,110 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,478,846 (GRCm39) |
W557R |
probably damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,520 (GRCm39) |
L198H |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,379 (GRCm39) |
T429K |
probably benign |
Het |
| Slc35f1 |
T |
G |
10: 52,965,546 (GRCm39) |
D320E |
probably benign |
Het |
| Smug1 |
C |
A |
15: 103,066,043 (GRCm39) |
|
probably null |
Het |
| Spata31f3 |
G |
A |
4: 42,873,087 (GRCm39) |
T68I |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,096,223 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Tmem130 |
A |
G |
5: 144,687,749 (GRCm39) |
S196P |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,535 (GRCm39) |
C176* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,169,159 (GRCm39) |
H1100R |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,957 (GRCm39) |
F151L |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,396,234 (GRCm39) |
T538A |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,651,380 (GRCm39) |
C638* |
probably null |
Het |
| Zfp128 |
C |
T |
7: 12,618,654 (GRCm39) |
R51C |
probably damaging |
Het |
| Zfp141 |
T |
G |
7: 42,125,855 (GRCm39) |
I206L |
possibly damaging |
Het |
| Zfp369 |
G |
T |
13: 65,443,494 (GRCm39) |
K324N |
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 |
|
|
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 |
|
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'- GCCAAACTCGTTACCACTTC -3'
(R):5'- GTTGCCTATCACAAGGGCAC -3'
Sequencing Primer
(F):5'- CTCTTCTCCAAGGATGAGGAC -3'
(R):5'- AAGGGCACTCAGGCTTCTAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation