Incidental Mutation 'R7189:Ssrp1'
| ID |
559474 |
| 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 |
045238-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84875906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 588
(M588I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111605]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
| AlphaFold |
Q08943 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077798
AA Change: M588I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: M588I
| 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 |
probably benign
Transcript: ENSMUST00000130729
AA Change: M588I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: M588I
| 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 |
probably benign
Transcript: ENSMUST00000168266
AA Change: M588I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: M588I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
G |
T |
2: 103,397,861 (GRCm39) |
A264S |
probably benign |
Het |
| Atosa |
T |
C |
9: 74,911,633 (GRCm39) |
C42R |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
| Bmp4 |
A |
G |
14: 46,621,456 (GRCm39) |
S363P |
probably damaging |
Het |
| Cfap54 |
C |
A |
10: 92,773,590 (GRCm39) |
A2077S |
unknown |
Het |
| Chrna7 |
T |
C |
7: 62,755,775 (GRCm39) |
D257G |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,780 (GRCm39) |
R46W |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,444,824 (GRCm39) |
I851T |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,372,817 (GRCm39) |
I534K |
unknown |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,870 (GRCm39) |
L46I |
probably benign |
Het |
| Dnah7b |
G |
C |
1: 46,281,302 (GRCm39) |
G2788R |
probably damaging |
Het |
| Dnpep |
T |
C |
1: 75,290,074 (GRCm39) |
E301G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,986,690 (GRCm39) |
S30P |
probably benign |
Het |
| Elk4 |
A |
G |
1: 131,947,127 (GRCm39) |
I373V |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,395,420 (GRCm39) |
S508G |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,659 (GRCm39) |
E146G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,823,581 (GRCm39) |
D6438G |
possibly damaging |
Het |
| Garin2 |
C |
T |
12: 78,758,982 (GRCm39) |
P101S |
probably benign |
Het |
| Gask1b |
T |
A |
3: 79,794,114 (GRCm39) |
L194* |
probably null |
Het |
| Gm49355 |
T |
A |
14: 12,296,672 (GRCm38) |
C10* |
probably null |
Het |
| Hfm1 |
A |
G |
5: 107,049,569 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,989,416 (GRCm39) |
S1956P |
probably damaging |
Het |
| Hrh2 |
A |
G |
13: 54,375,270 (GRCm39) |
S369G |
unknown |
Het |
| Hspg2 |
T |
C |
4: 137,260,872 (GRCm39) |
|
probably null |
Het |
| Hsph1 |
T |
C |
5: 149,553,925 (GRCm39) |
Y181C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,201,145 (GRCm39) |
|
probably null |
Het |
| Kctd1 |
C |
T |
18: 15,195,700 (GRCm39) |
E308K |
possibly damaging |
Het |
| Kdm8 |
A |
T |
7: 125,060,103 (GRCm39) |
Y335F |
probably damaging |
Het |
| Kif2b |
C |
G |
11: 91,467,963 (GRCm39) |
G107R |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
C |
4: 101,671,961 (GRCm39) |
V995A |
probably benign |
Het |
| Mfsd4a |
A |
T |
1: 131,980,131 (GRCm39) |
V375E |
probably damaging |
Het |
| Mgl2 |
G |
T |
11: 70,027,869 (GRCm39) |
W359L |
probably damaging |
Het |
| Muc5b |
C |
A |
7: 141,414,798 (GRCm39) |
Y2581* |
probably null |
Het |
| Nol10 |
G |
T |
12: 17,423,562 (GRCm39) |
|
probably null |
Het |
| Or4k47 |
T |
A |
2: 111,451,538 (GRCm39) |
M294L |
probably benign |
Het |
| Or52n3 |
A |
T |
7: 104,530,348 (GRCm39) |
K145* |
probably null |
Het |
| Otud3 |
C |
T |
4: 138,636,865 (GRCm39) |
V99M |
probably damaging |
Het |
| Parvb |
T |
C |
15: 84,187,672 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
A |
5: 14,571,932 (GRCm39) |
P439Q |
possibly damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
A |
T |
8: 84,419,302 (GRCm39) |
H100Q |
possibly damaging |
Het |
| Plce1 |
A |
T |
19: 38,748,581 (GRCm39) |
I1771F |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,483,366 (GRCm39) |
R1559L |
possibly damaging |
Het |
| Ppp2r3d |
T |
A |
9: 101,003,621 (GRCm39) |
I416L |
possibly damaging |
Het |
| Pramel42 |
T |
A |
5: 94,685,610 (GRCm39) |
Y423* |
probably null |
Het |
| Robo1 |
C |
A |
16: 72,757,039 (GRCm39) |
C333* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,898,009 (GRCm39) |
Y129N |
probably damaging |
Het |
| Schip1 |
A |
T |
3: 68,525,032 (GRCm39) |
K359M |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,525,033 (GRCm39) |
K359N |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,755,668 (GRCm39) |
S65T |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,273,470 (GRCm39) |
C567S |
probably benign |
Het |
| Syne1 |
C |
A |
10: 5,374,295 (GRCm39) |
A171S |
probably benign |
Het |
| Tigd3 |
A |
G |
19: 5,943,050 (GRCm39) |
S27P |
probably benign |
Het |
| Vipr1 |
C |
A |
9: 121,493,620 (GRCm39) |
Q224K |
probably damaging |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,475 (GRCm39) |
M69K |
possibly damaging |
Het |
| Vmn2r72 |
T |
G |
7: 85,404,125 (GRCm39) |
D22A |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,472 (GRCm39) |
V523I |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,352,307 (GRCm39) |
F20S |
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 |
|
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 |
|
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'- TTGCCTGTGTAGCCCAAGTC -3'
(R):5'- AGCCGTTTTGTTCCCAACAC -3'
Sequencing Primer
(F):5'- CCTGTGTAGCCCAAGTCGATTTAG -3'
(R):5'- AACACTCACCTTTTAGATGAGTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation