Incidental Mutation 'R4797:Ssrp1'
ID 369112
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 042421-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4797 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84867578-84877453 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 84876066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 607 (Y607*)
Ref Sequence ENSEMBL: ENSMUSP00000127058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077798] [ENSMUST00000111605] [ENSMUST00000130729] [ENSMUST00000168266]
AlphaFold Q08943
Predicted Effect probably null
Transcript: ENSMUST00000077798
AA Change: Y607*
SMART Domains Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: Y607*

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 probably benign
Transcript: ENSMUST00000111605
SMART Domains Protein: ENSMUSP00000107232
Gene: ENSMUSG00000033955

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000126309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127069
Predicted Effect probably null
Transcript: ENSMUST00000130729
AA Change: Y607*
SMART Domains Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: Y607*

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: ENSMUST00000139915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145097
Predicted Effect probably null
Transcript: ENSMUST00000168266
AA Change: Y607*
SMART Domains Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: Y607*

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: ENSMUST00000142359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151092
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (69/72)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,008,945 (GRCm39) T1195A probably benign Het
Apobr G A 7: 126,186,756 (GRCm39) E756K probably benign Het
Arpc3 A G 5: 122,542,215 (GRCm39) E77G possibly damaging Het
Atp2b2 A T 6: 113,766,847 (GRCm39) M464K possibly damaging Het
Atxn7l2 A G 3: 108,111,866 (GRCm39) S379P probably damaging Het
Ccdc91 A T 6: 147,493,641 (GRCm39) E344D unknown Het
Cdc42bpg G A 19: 6,370,477 (GRCm39) R1190Q probably damaging Het
Cdh17 C A 4: 11,810,390 (GRCm39) Q694K probably benign Het
Chordc1 G T 9: 18,203,672 (GRCm39) probably benign Het
Copg1 A G 6: 87,880,450 (GRCm39) probably benign Het
Dcbld1 T C 10: 52,160,223 (GRCm39) V37A probably damaging Het
Ddb2 A G 2: 91,067,163 (GRCm39) probably benign Het
Dok5 A T 2: 170,672,042 (GRCm39) R115* probably null Het
Drc7 T C 8: 95,800,925 (GRCm39) I649T probably damaging Het
Efr3a A G 15: 65,729,437 (GRCm39) T713A probably damaging Het
Epg5 G A 18: 78,073,614 (GRCm39) D2494N probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Glb1l3 T C 9: 26,739,742 (GRCm39) D356G probably damaging Het
Gm1818 A T 12: 48,602,393 (GRCm39) noncoding transcript Het
Gsta5 A T 9: 78,211,679 (GRCm39) Y147F probably benign Het
Hcrtr2 C A 9: 76,161,816 (GRCm39) M191I probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Hsd3b2 A T 3: 98,618,979 (GRCm39) L322Q probably damaging Het
Hsd3b9 T A 3: 98,363,747 (GRCm39) R62* probably null Het
Htra4 T C 8: 25,523,675 (GRCm39) T297A probably damaging Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Ints1 G A 5: 139,757,631 (GRCm39) T324M possibly damaging Het
Ints15 A G 5: 143,297,504 (GRCm39) F181S probably benign Het
Ints7 T C 1: 191,329,045 (GRCm39) V268A probably damaging Het
Kctd20 G A 17: 29,185,766 (GRCm39) V370I probably damaging Het
Lama1 T A 17: 68,023,770 (GRCm39) M55K probably benign Het
Larp1 C A 11: 57,938,806 (GRCm39) S494* probably null Het
Ldb3 A T 14: 34,277,470 (GRCm39) H262Q possibly damaging Het
Lepr C A 4: 101,637,244 (GRCm39) T711K possibly damaging Het
Mon2 T C 10: 122,852,422 (GRCm39) I984V probably benign Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Oasl1 A G 5: 115,066,217 (GRCm39) M112V probably benign Het
Or2d2b A T 7: 106,705,234 (GRCm39) M278K probably benign Het
Or6c214 A T 10: 129,590,390 (GRCm39) S310T probably benign Het
Or7c19 G T 8: 85,957,567 (GRCm39) A148S probably benign Het
P2ry1 T A 3: 60,910,881 (GRCm39) S7T probably benign Het
Pidd1 G T 7: 141,022,899 (GRCm39) R98S possibly damaging Het
Pkd1l1 A C 11: 8,911,340 (GRCm39) F312L unknown Het
Pla2r1 A T 2: 60,334,524 (GRCm39) M416K possibly damaging Het
Pold1 T C 7: 44,191,325 (GRCm39) E194G possibly damaging Het
Poldip2 T A 11: 78,404,813 (GRCm39) Y77N probably damaging Het
Ppp2r3d G T 9: 101,089,179 (GRCm39) N381K probably benign Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsu1 A G 2: 13,221,537 (GRCm39) probably benign Het
Selenoi T A 5: 30,457,740 (GRCm39) W90R probably damaging Het
Spag17 T A 3: 99,891,795 (GRCm39) D216E possibly damaging Het
Spata31 C A 13: 65,070,556 (GRCm39) Y901* probably null Het
Stk10 T A 11: 32,548,471 (GRCm39) N346K probably benign Het
Surf1 G T 2: 26,806,358 (GRCm39) probably benign Het
Synj2 A T 17: 6,084,163 (GRCm39) E283V probably damaging Het
Tg G A 15: 66,629,855 (GRCm39) probably null Het
Traf1 A T 2: 34,846,289 (GRCm39) D42E probably benign Het
Ttn T C 2: 76,571,209 (GRCm39) I26561M probably damaging Het
Ubp1 T C 9: 113,785,070 (GRCm39) Y128H probably damaging Het
Vmn1r216 T A 13: 23,283,506 (GRCm39) I63K probably benign Het
Vmn1r49 T A 6: 90,049,612 (GRCm39) H130L probably benign Het
Vmn2r90 C T 17: 17,932,567 (GRCm39) T158I probably damaging Het
Vps13d T C 4: 144,780,725 (GRCm39) S885G probably 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
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'- AGTCGGATCATCCTGGCATC -3'
(R):5'- GGCATTCAGGGATTTAAGAAGCAC -3'

Sequencing Primer
(F):5'- GGATCATCCTGGCATCAGTATCACAG -3'
(R):5'- TCAGGGATTTAAGAAGCACTACTC -3'
Posted On 2016-02-04