Incidental Mutation 'IGL01935:Ssrp1'
ID 180640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssrp1
Ensembl Gene ENSMUSG00000027067
Gene Name structure specific recognition protein 1
Synonyms Hmgox, Hmgi-rs3, Hmg1-rs1, T160
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01935
Quality Score
Status
Chromosome 2
Chromosomal Location 84867578-84877453 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 84877056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 709 (*709Q)
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: *709Q
SMART Domains Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: *709Q

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 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: ENSMUST00000139915
Predicted Effect probably null
Transcript: ENSMUST00000168266
AA Change: *709Q
SMART Domains Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: *709Q

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: ENSMUST00000145097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150200
Coding Region Coverage
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 C T 6: 140,583,383 (GRCm39) probably benign Het
Akr1c12 A T 13: 4,322,244 (GRCm39) V266E probably damaging Het
Arhgef1 A G 7: 24,621,307 (GRCm39) T186A probably damaging Het
Atp8b5 A G 4: 43,366,638 (GRCm39) T801A probably benign Het
Card11 T A 5: 140,869,301 (GRCm39) I832F possibly damaging Het
Catsperg1 T C 7: 28,895,296 (GRCm39) probably null Het
Ccdc180 A G 4: 45,906,889 (GRCm39) T455A possibly damaging Het
Cfhr1 T A 1: 139,478,740 (GRCm39) Y210F probably benign Het
Chrna5 T C 9: 54,912,127 (GRCm39) V309A probably benign Het
Clstn2 A G 9: 97,345,521 (GRCm39) V609A probably damaging Het
Dnah6 T C 6: 73,037,126 (GRCm39) D3372G probably benign Het
Dtymk T C 1: 93,722,465 (GRCm39) K113E probably benign Het
Eef2k T C 7: 120,485,054 (GRCm39) F307S probably damaging Het
Flnc T A 6: 29,454,279 (GRCm39) V1864E probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Herc2 A G 7: 55,803,541 (GRCm39) Y2192C probably benign Het
Hkdc1 A T 10: 62,236,165 (GRCm39) V459E probably damaging Het
Iqsec3 T C 6: 121,360,951 (GRCm39) D969G probably damaging Het
Irf3 A G 7: 44,650,194 (GRCm39) T237A probably benign Het
Jade2 G A 11: 51,719,211 (GRCm39) T245I possibly damaging Het
Kctd8 A G 5: 69,497,707 (GRCm39) I313T possibly damaging Het
Kdm5a T A 6: 120,385,284 (GRCm39) S835R probably benign Het
Lama2 A C 10: 27,298,600 (GRCm39) H165Q probably damaging Het
Lrp1b T A 2: 41,158,367 (GRCm39) N1617Y probably damaging Het
Mcc C T 18: 44,652,583 (GRCm39) probably null Het
Mfsd14b T A 13: 65,215,739 (GRCm39) M405L probably benign Het
Myom3 T A 4: 135,515,692 (GRCm39) F794I probably damaging Het
Napsa G T 7: 44,236,046 (GRCm39) A362S probably benign Het
Ncf4 A T 15: 78,140,186 (GRCm39) D195V probably damaging Het
Or11g1 T C 14: 50,651,012 (GRCm39) F4L probably benign Het
Pank4 T G 4: 155,063,987 (GRCm39) D659E probably damaging Het
Pcnx1 T A 12: 81,964,590 (GRCm39) D252E probably benign Het
Pglyrp2 G A 17: 32,637,551 (GRCm39) A159V probably benign Het
Phaf1 T C 8: 105,966,633 (GRCm39) F127L probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Ppfia4 A G 1: 134,245,674 (GRCm39) S627P probably benign Het
Ppp1r15b T C 1: 133,059,761 (GRCm39) F93L probably benign Het
Pramel13 C T 4: 144,119,172 (GRCm39) probably benign Het
Qrfpr A T 3: 36,235,200 (GRCm39) probably null Het
Rapgef4 C A 2: 72,064,467 (GRCm39) T623K probably benign Het
Rapgef6 A G 11: 54,501,668 (GRCm39) T184A possibly damaging Het
St7 T G 6: 17,930,822 (GRCm39) I442S probably damaging Het
Syne2 T A 12: 75,972,087 (GRCm39) H992Q probably damaging Het
Syt14 T C 1: 192,615,679 (GRCm39) R436G probably damaging Het
Tbc1d5 A G 17: 51,270,793 (GRCm39) probably benign Het
Thsd7a T A 6: 12,317,418 (GRCm39) N1630I probably damaging Het
Tinagl1 T C 4: 130,061,794 (GRCm39) K180R probably damaging Het
Tmed7 T C 18: 46,730,190 (GRCm39) T54A probably benign Het
Tmprss2 A T 16: 97,379,795 (GRCm39) Y48* probably null Het
Tns2 C T 15: 102,020,069 (GRCm39) probably null Het
Unc13d T C 11: 115,960,577 (GRCm39) M496V probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb39 A G 10: 127,578,235 (GRCm39) T270A probably benign Het
Zfr T C 15: 12,180,798 (GRCm39) S976P probably benign Het
Zscan29 A G 2: 121,000,538 (GRCm39) F23S probably damaging Het
Other mutations in Ssrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Ssrp1 APN 2 84,871,443 (GRCm39) splice site probably benign
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
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
Posted On 2014-05-07