Incidental Mutation 'R6551:Ssrp1'
| ID |
521569 |
| 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 |
044676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 84871450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 |
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
|
| 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: ENSMUST00000142359
|
| Predicted Effect |
probably null
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: ENSMUST00000145097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146530
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
| Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
| Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
| Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
| Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
| Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
| Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
| Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
| Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
| Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
| Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
| Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
G |
A |
6: 71,487,349 (GRCm39) |
C660Y |
probably damaging |
Het |
| Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
| Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
| Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
| Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
| Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
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 |
|
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 |
|
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'- TGGATCCTCCCATCAAGCAG -3'
(R):5'- AGGCTTCTACCAGAGCACAC -3'
Sequencing Primer
(F):5'- GCAGGGCCAAACTCGTTAC -3'
(R):5'- CACAGGAGAGACTTCTTTACTAAGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation