Incidental Mutation 'R6133:Ssrp1'
ID 512266
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 044280-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6133 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 84867578-84877453 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 84875683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077798] [ENSMUST00000130729] [ENSMUST00000168266]
AlphaFold Q08943
Predicted Effect probably benign
Transcript: ENSMUST00000077798
SMART Domains Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000127069
Predicted Effect probably benign
Transcript: ENSMUST00000130729
SMART Domains Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067

DomainStartEndE-ValueType
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: ENSMUST00000139915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145097
Predicted Effect probably benign
Transcript: ENSMUST00000168266
SMART Domains Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067

DomainStartEndE-ValueType
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: ENSMUST00000146530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151092
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,052,067 (GRCm39) T912A possibly damaging Het
Akap12 G T 10: 4,305,178 (GRCm39) G663C probably benign Het
Ankhd1 T C 18: 36,758,179 (GRCm39) S958P possibly damaging Het
Cmtm2a T C 8: 105,019,362 (GRCm39) I76V probably benign Het
Cpxm2 G A 7: 131,730,182 (GRCm39) P146S probably damaging Het
Cubn A G 2: 13,313,429 (GRCm39) V3047A probably benign Het
Dgkd T A 1: 87,865,962 (GRCm39) V198E possibly damaging Het
Dnah3 A T 7: 119,685,469 (GRCm39) M181K probably benign Het
Dnah7a T C 1: 53,458,814 (GRCm39) T3775A probably benign Het
Dsg2 A G 18: 20,723,146 (GRCm39) I391V probably benign Het
Ebi3 T A 17: 56,261,311 (GRCm39) V69E probably benign Het
Fn1 T C 1: 71,636,886 (GRCm39) T1998A probably damaging Het
Frmpd1 T A 4: 45,284,915 (GRCm39) H1245Q probably benign Het
Gm7145 T A 1: 117,913,618 (GRCm39) C167S probably damaging Het
Hydin C T 8: 111,327,908 (GRCm39) T4805I probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 C T 14: 24,053,936 (GRCm39) M21I probably damaging Het
Lrfn5 A G 12: 61,890,574 (GRCm39) D621G probably benign Het
Lrrc15 C T 16: 30,093,054 (GRCm39) G95D probably benign Het
Mex3d A G 10: 80,222,620 (GRCm39) L212P probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Naip1 A G 13: 100,581,151 (GRCm39) V32A probably benign Het
Nsl1 T C 1: 190,803,403 (GRCm39) L158P probably damaging Het
Or51q1c A T 7: 103,652,532 (GRCm39) T17S possibly damaging Het
Or6c202 G A 10: 128,996,752 (GRCm39) L34F possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pakap C T 4: 57,855,516 (GRCm39) Q525* probably null Het
Pcdh15 A T 10: 74,481,805 (GRCm39) probably null Het
Pramel15 T C 4: 144,104,347 (GRCm39) R53G possibly damaging Het
Ptpn1 T C 2: 167,809,716 (GRCm39) V108A possibly damaging Het
Rad9b T C 5: 122,477,831 (GRCm39) N182D possibly damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scn2a G A 2: 65,573,448 (GRCm39) V1433I probably benign Het
Suco T A 1: 161,662,752 (GRCm39) K560* probably null Het
Tbx3 T C 5: 119,819,018 (GRCm39) V531A probably benign Het
Tmem30c T C 16: 57,098,100 (GRCm39) Y107C probably damaging Het
Topbp1 T A 9: 103,188,963 (GRCm39) probably null Het
Trpm5 A T 7: 142,642,688 (GRCm39) D86E probably damaging Het
Urb2 C T 8: 124,755,300 (GRCm39) Q336* probably null Het
Vmn2r43 A G 7: 8,247,970 (GRCm39) F731S probably damaging Het
Xkr9 A G 1: 13,754,359 (GRCm39) T118A probably benign Het
Zcchc2 A C 1: 105,947,609 (GRCm39) K117N probably damaging Het
Zfp52 T C 17: 21,780,733 (GRCm39) Y194H probably damaging Het
Zfp763 C T 17: 33,237,675 (GRCm39) C490Y possibly damaging Het
Zmynd19 G T 2: 24,848,131 (GRCm39) R148L possibly damaging Het
Other mutations in Ssrp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAGCCTTGGCCTTGGTGATAC -3'
(R):5'- TGCCTTCTTGGAAAGATCTGTGATAC -3'

Sequencing Primer
(F):5'- CAGATGTTCTGTTTAGGACTGAGCC -3'
(R):5'- TACTGATGCCAGGATGATCCGAC -3'
Posted On 2018-04-19