Incidental Mutation 'R0363:Ssrp1'
| ID |
30163 |
| 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 |
038569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0363 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84871018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 218
(I218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111613]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
| AlphaFold |
Q08943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077798
AA Change: I218S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: I218S
| 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 damaging
Transcript: ENSMUST00000130729
AA Change: I218S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: I218S
| 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 damaging
Transcript: ENSMUST00000168266
AA Change: I218S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: I218S
| 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 |
0.9511 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.5%
|
| Validation Efficiency |
98% (78/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
T |
A |
4: 109,381,520 (GRCm39) |
Q86L |
probably null |
Het |
| Abhd2 |
A |
G |
7: 79,000,561 (GRCm39) |
D262G |
possibly damaging |
Het |
| Abhd5 |
T |
C |
9: 122,197,211 (GRCm39) |
F133L |
possibly damaging |
Het |
| Agap2 |
T |
A |
10: 126,926,834 (GRCm39) |
V957E |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,292,676 (GRCm39) |
K919R |
probably damaging |
Het |
| Ap1m1 |
T |
C |
8: 73,006,738 (GRCm39) |
S245P |
probably benign |
Het |
| Ap1m1 |
T |
C |
8: 73,010,568 (GRCm39) |
|
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,070,168 (GRCm39) |
Y145C |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,060,136 (GRCm39) |
N2840Y |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,981,027 (GRCm39) |
S327P |
probably damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,885,944 (GRCm39) |
R421L |
probably damaging |
Het |
| Ccdc85a |
A |
T |
11: 28,533,400 (GRCm39) |
I48N |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,856,244 (GRCm39) |
S672P |
probably damaging |
Het |
| Ciz1 |
G |
C |
2: 32,267,375 (GRCm39) |
|
probably null |
Het |
| Cmbl |
G |
A |
15: 31,585,588 (GRCm39) |
|
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,231,377 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,583,143 (GRCm39) |
K1074* |
probably null |
Het |
| Cntnap5b |
A |
G |
1: 100,202,193 (GRCm39) |
M347V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,917,991 (GRCm39) |
M203K |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,689 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,129,314 (GRCm39) |
E892G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,275,948 (GRCm39) |
S2612P |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,113,276 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
G |
A |
16: 22,230,458 (GRCm39) |
A192V |
probably benign |
Het |
| Fa2h |
T |
A |
8: 112,075,921 (GRCm39) |
H234L |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,170,134 (GRCm39) |
Y47C |
probably damaging |
Het |
| Flvcr1 |
T |
A |
1: 190,744,451 (GRCm39) |
|
probably benign |
Het |
| Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,886 (GRCm39) |
|
probably benign |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,721,010 (GRCm39) |
|
probably null |
Het |
| Krt4 |
G |
A |
15: 101,833,081 (GRCm39) |
R9C |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,132,525 (GRCm39) |
S876P |
probably damaging |
Het |
| Mettl21e |
A |
G |
1: 44,250,190 (GRCm39) |
|
probably null |
Het |
| Msh2 |
C |
T |
17: 88,024,904 (GRCm39) |
T594M |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,437,536 (GRCm39) |
S973P |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,697 (GRCm39) |
M889L |
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,276,369 (GRCm39) |
I193T |
probably benign |
Het |
| Nudt13 |
A |
T |
14: 20,359,851 (GRCm39) |
I193F |
probably damaging |
Het |
| Or2n1 |
A |
G |
17: 38,486,338 (GRCm39) |
D121G |
probably damaging |
Het |
| Or3a1 |
C |
T |
11: 74,225,925 (GRCm39) |
G44D |
probably damaging |
Het |
| Or4b1b |
A |
T |
2: 90,112,200 (GRCm39) |
S240T |
probably damaging |
Het |
| Or5p73 |
A |
T |
7: 108,064,941 (GRCm39) |
T137S |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,606,381 (GRCm39) |
V344A |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,795,093 (GRCm39) |
Q128* |
probably null |
Het |
| Pcdhb22 |
G |
A |
18: 37,652,213 (GRCm39) |
R227H |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pltp |
C |
T |
2: 164,682,056 (GRCm39) |
R394H |
probably benign |
Het |
| Ppip5k1 |
C |
G |
2: 121,177,836 (GRCm39) |
A324P |
probably damaging |
Het |
| Pramel14 |
C |
T |
4: 143,718,221 (GRCm39) |
M407I |
probably benign |
Het |
| Prdm13 |
A |
C |
4: 21,679,737 (GRCm39) |
V251G |
unknown |
Het |
| Prkg1 |
T |
C |
19: 31,641,596 (GRCm39) |
E29G |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,380 (GRCm39) |
S409P |
unknown |
Het |
| Rp1 |
T |
A |
1: 4,417,941 (GRCm39) |
D1057V |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,029,079 (GRCm39) |
C599Y |
probably damaging |
Het |
| Shisa6 |
C |
T |
11: 66,416,153 (GRCm39) |
R213Q |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,273 (GRCm39) |
Y232H |
probably damaging |
Het |
| Slx4 |
G |
A |
16: 3,797,953 (GRCm39) |
A1477V |
probably damaging |
Het |
| St6galnac1 |
A |
C |
11: 116,659,756 (GRCm39) |
S186A |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,880,965 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
T |
C |
2: 177,988,204 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,118,981 (GRCm39) |
I5867N |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,839 (GRCm39) |
D144E |
probably damaging |
Het |
| Tlcd5 |
A |
T |
9: 43,023,048 (GRCm39) |
M84K |
probably damaging |
Het |
| Tmem87b |
T |
A |
2: 128,673,153 (GRCm39) |
S196T |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,768 (GRCm39) |
T127A |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,148,406 (GRCm39) |
I336T |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,981 (GRCm39) |
I148V |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,649,970 (GRCm39) |
Y667H |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,119,171 (GRCm39) |
T152A |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,636 (GRCm39) |
V198E |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,181,091 (GRCm39) |
F376L |
probably benign |
Het |
| Zfp1007 |
T |
C |
5: 109,824,754 (GRCm39) |
E232G |
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 |
|
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 |
|
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'- TCTATGTTCCTCCCACGCAGGAAG -3'
(R):5'- TTGAAGCCCAGGCGACTGAACAAC -3'
Sequencing Primer
(F):5'- GAAGATGGTGTGGACCCTG -3'
(R):5'- AGGCAGCATGACCTTTATCTAC -3'
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| Posted On |
2013-04-24 |
Incidental Mutation