Incidental Mutation 'R9074:Ssrp1'
| ID |
689650 |
| 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 |
068895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84867578-84877453 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84875811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 557
(W557R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077798]
[ENSMUST00000111605]
[ENSMUST00000130729]
[ENSMUST00000168266]
|
| AlphaFold |
Q08943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077798
AA Change: W557R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: W557R
| 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 damaging
Transcript: ENSMUST00000130729
AA Change: W557R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: W557R
| 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 damaging
Transcript: ENSMUST00000168266
AA Change: W557R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: W557R
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,972,257 (GRCm39) |
|
silent |
Het |
| Ackr2 |
T |
A |
9: 121,737,729 (GRCm39) |
C35S |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,573,940 (GRCm39) |
K1054N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,601,879 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,127,959 (GRCm39) |
I3765K |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,824,610 (GRCm39) |
F1219I |
|
Het |
| Btc |
A |
T |
5: 91,508,603 (GRCm39) |
|
probably null |
Het |
| Cd163 |
C |
T |
6: 124,285,947 (GRCm39) |
R166* |
probably null |
Het |
| Cfap52 |
G |
A |
11: 67,822,656 (GRCm39) |
S405L |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,531,414 (GRCm39) |
L210P |
possibly damaging |
Het |
| Creb3l3 |
T |
A |
10: 80,924,452 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,934,458 (GRCm39) |
I144F |
probably benign |
Het |
| Dedd |
G |
T |
1: 171,167,888 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,491,124 (GRCm39) |
R537C |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,135,267 (GRCm39) |
R633S |
probably benign |
Het |
| Fmn2 |
C |
A |
1: 174,436,198 (GRCm39) |
T723N |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Ggcx |
T |
G |
6: 72,402,924 (GRCm39) |
F294C |
probably damaging |
Het |
| Ghr |
G |
A |
15: 3,370,470 (GRCm39) |
P132S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,299 (GRCm39) |
H517L |
probably damaging |
Het |
| Gm5862 |
T |
C |
5: 26,226,624 (GRCm39) |
T93A |
probably damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,532,797 (GRCm39) |
Y897C |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,558,795 (GRCm39) |
C1817R |
probably damaging |
Het |
| Ier5 |
C |
A |
1: 154,974,275 (GRCm39) |
W301L |
probably damaging |
Het |
| Irf2bp2 |
A |
G |
8: 127,318,456 (GRCm39) |
L370P |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,636,344 (GRCm39) |
N677K |
probably damaging |
Het |
| Itgb7 |
G |
T |
15: 102,132,797 (GRCm39) |
R172S |
|
Het |
| Kdm6b |
A |
T |
11: 69,292,977 (GRCm39) |
C1266* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,489,343 (GRCm39) |
V4532E |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,226 (GRCm39) |
F275V |
probably damaging |
Het |
| Lrrc4 |
C |
A |
6: 28,831,595 (GRCm39) |
V7L |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,664,050 (GRCm39) |
R537H |
probably damaging |
Het |
| Mchr1 |
T |
G |
15: 81,119,980 (GRCm39) |
D2E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,245 (GRCm39) |
D212G |
probably damaging |
Het |
| Mup2 |
T |
C |
4: 60,139,717 (GRCm39) |
T24A |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,264 (GRCm39) |
K991E |
possibly damaging |
Het |
| Ndufb11b |
T |
A |
15: 81,865,011 (GRCm39) |
M84K |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,573 (GRCm39) |
A552V |
possibly damaging |
Het |
| Or2p2 |
C |
T |
13: 21,256,784 (GRCm39) |
R229H |
possibly damaging |
Het |
| Or51r1 |
T |
G |
7: 102,228,433 (GRCm39) |
S244A |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,804,479 (GRCm39) |
S527P |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,043,351 (GRCm39) |
V233E |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,888,164 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,556,246 (GRCm39) |
W72R |
unknown |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Proc |
A |
G |
18: 32,268,950 (GRCm39) |
S12P |
possibly damaging |
Het |
| Rida |
T |
A |
15: 34,488,823 (GRCm39) |
Q23L |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,587,025 (GRCm39) |
E406G |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,625 (GRCm39) |
T238A |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,894 (GRCm39) |
S3039C |
possibly damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,167 (GRCm39) |
I190V |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,257 (GRCm39) |
D882G |
probably damaging |
Het |
| Strn |
C |
G |
17: 79,043,790 (GRCm39) |
A43P |
probably benign |
Het |
| Taf6 |
A |
C |
5: 138,180,465 (GRCm39) |
Y300D |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,658,933 (GRCm39) |
Y270C |
probably damaging |
Het |
| Tnnt3 |
T |
A |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,826,637 (GRCm39) |
H117R |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,839,146 (GRCm39) |
T2133S |
possibly damaging |
Het |
| Vrk2 |
T |
A |
11: 26,543,917 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,125,902 (GRCm39) |
Q1011P |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,615,403 (GRCm39) |
I306N |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,611,496 (GRCm39) |
S283P |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,939,462 (GRCm39) |
T170I |
possibly 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 |
|
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 |
|
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'- ACACTCACCTTTTAGATGAGTCCC -3'
Sequencing Primer
(F):5'- CCTGTGTAGCCCAAGTCGATTTAG -3'
(R):5'- CCTTCAGACTGATGCAAGCAAGTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation