Incidental Mutation 'R2965:Ssrp1'
ID |
255999 |
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 |
040521-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2965 (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 G
at 84871930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 385
(T385A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
AlphaFold |
Q08943 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077798
AA Change: T385A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000076971 Gene: ENSMUSG00000027067 AA Change: T385A
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 |
possibly damaging
Transcript: ENSMUST00000130729
AA Change: T385A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121639 Gene: ENSMUSG00000027067 AA Change: T385A
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 |
possibly damaging
Transcript: ENSMUST00000168266
AA Change: T385A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127058 Gene: ENSMUSG00000027067 AA Change: T385A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Add1 |
C |
A |
5: 34,788,058 (GRCm39) |
D702E |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,248,791 (GRCm39) |
I772T |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,714,979 (GRCm39) |
I382V |
probably benign |
Het |
Anks1 |
A |
G |
17: 28,272,879 (GRCm39) |
T925A |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,805,049 (GRCm39) |
D1022G |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,836,798 (GRCm39) |
K2256E |
probably benign |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Cntln |
T |
C |
4: 84,892,264 (GRCm39) |
|
probably null |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Col2a1 |
A |
G |
15: 97,873,976 (GRCm39) |
I1402T |
unknown |
Het |
Col4a3 |
T |
C |
1: 82,626,321 (GRCm39) |
L86P |
unknown |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Ddx43 |
C |
A |
9: 78,313,661 (GRCm39) |
Y197* |
probably null |
Het |
Dnah7b |
T |
A |
1: 46,246,732 (GRCm39) |
I1636N |
probably damaging |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Dyrk2 |
T |
A |
10: 118,696,242 (GRCm39) |
K339* |
probably null |
Het |
Fam187b |
A |
C |
7: 30,677,154 (GRCm39) |
D221A |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fgd6 |
T |
A |
10: 93,880,056 (GRCm39) |
F303L |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gm10784 |
A |
T |
13: 50,099,233 (GRCm39) |
|
noncoding transcript |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gria1 |
C |
T |
11: 57,076,627 (GRCm39) |
Q8* |
probably null |
Het |
H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,750,697 (GRCm39) |
D1796E |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Klhl2 |
C |
T |
8: 65,205,794 (GRCm39) |
V376M |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,050,761 (GRCm39) |
S664P |
probably benign |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,745,154 (GRCm39) |
V1807A |
possibly damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,534,794 (GRCm39) |
V304A |
probably benign |
Het |
Nek10 |
T |
C |
14: 14,836,202 (GRCm38) |
L141P |
probably damaging |
Het |
Noa1 |
T |
C |
5: 77,454,191 (GRCm39) |
E483G |
possibly damaging |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,824,236 (GRCm39) |
S1110C |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,034,364 (GRCm39) |
S359T |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,579,080 (GRCm39) |
S873P |
probably damaging |
Het |
Prss35 |
A |
G |
9: 86,637,635 (GRCm39) |
D135G |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,814 (GRCm39) |
N164S |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Tcf15 |
T |
C |
2: 151,985,871 (GRCm39) |
I109T |
probably damaging |
Het |
Tcp11 |
C |
A |
17: 28,288,239 (GRCm39) |
D330Y |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,715 (GRCm39) |
V91E |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,341,073 (GRCm39) |
V358M |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,996,609 (GRCm39) |
I303T |
probably damaging |
Het |
Zfp229 |
T |
G |
17: 21,965,010 (GRCm39) |
H413Q |
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 |
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 |
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'- TGACAAGGCTTCCTGCATCC -3'
(R):5'- TCCCACCATAGAGGAAATGGAG -3'
Sequencing Primer
(F):5'- TGCATCCTCCACCAGGC -3'
(R):5'- CTAAAGCCGGACAGTGGTG -3'
|
Posted On |
2014-12-29 |