Incidental Mutation 'R5571:Ssrp1'
ID 435654
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 044395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5571 (G1)
Quality Score 121
Status Validated
Chromosome 2
Chromosomal Location 84867578-84877453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 84874669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 496 (D496E)
Ref Sequence ENSEMBL: ENSMUSP00000127058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077798] [ENSMUST00000130729] [ENSMUST00000168266]
AlphaFold Q08943
Predicted Effect probably damaging
Transcript: ENSMUST00000077798
AA Change: D496E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: D496E

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 damaging
Transcript: ENSMUST00000130729
AA Change: D496E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: D496E

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 probably damaging
Transcript: ENSMUST00000168266
AA Change: D496E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: D496E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145097
Meta Mutation Damage Score 0.1147 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
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'- AATAACCTTTCGTGGTGGCCG -3'
(R):5'- CCAACAGCATCTACTGGTAGTG -3'

Sequencing Primer
(F):5'- CTTTGAGAAGGGATGTTGAAGCCATC -3'
(R):5'- CAGCATCTACTGGTAGTGAACAG -3'
Posted On 2016-10-24