Incidental Mutation 'R4357:Ssrp1'
ID 324583
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 041109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4357 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 84867578-84877453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84871495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 306 (M306L)
Ref Sequence ENSEMBL: ENSMUSP00000121639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077798] [ENSMUST00000111613] [ENSMUST00000130729] [ENSMUST00000168266]
AlphaFold Q08943
Predicted Effect probably benign
Transcript: ENSMUST00000077798
AA Change: M306L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: M306L

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: ENSMUST00000111613
SMART Domains Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071

DomainStartEndE-ValueType
Pfam:P2X_receptor 8 372 4.7e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127069
Predicted Effect probably benign
Transcript: ENSMUST00000130729
AA Change: M306L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: M306L

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 probably benign
Transcript: ENSMUST00000168266
AA Change: M306L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: M306L

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: ENSMUST00000146530
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,084 (GRCm39) T65A possibly damaging Het
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Ap4m1 A G 5: 138,171,311 (GRCm39) E125G probably damaging Het
Atp13a2 C A 4: 140,729,215 (GRCm39) D599E probably benign Het
Brme1 T C 8: 84,886,221 (GRCm39) L59P probably benign Het
Camkv G A 9: 107,825,145 (GRCm39) G354E probably benign Het
Casp8ap2 T A 4: 32,646,150 (GRCm39) M1741K probably benign Het
Chtf18 T C 17: 25,938,106 (GRCm39) D119G probably benign Het
Cnga1 T A 5: 72,775,595 (GRCm39) D42V probably damaging Het
Cysltr2 T C 14: 73,267,084 (GRCm39) I209V probably benign Het
Defa27 A T 8: 21,805,608 (GRCm39) Q16L probably null Het
Dnaja3 T C 16: 4,517,731 (GRCm39) I321T probably damaging Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif2ak3 T A 6: 70,861,859 (GRCm39) I467N probably damaging Het
Eif5b T A 1: 38,089,339 (GRCm39) V1105E probably damaging Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Gm10803 A G 2: 93,394,350 (GRCm39) R41G unknown Het
Gm38392 A T 3: 88,154,741 (GRCm39) I221N probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hsd17b6 G T 10: 127,829,637 (GRCm39) probably null Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lats2 A G 14: 57,936,840 (GRCm39) S550P probably damaging Het
Lmo7 A G 14: 102,125,091 (GRCm39) R406G probably null Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Lrrfip2 A G 9: 111,028,755 (GRCm39) E326G probably damaging Het
Megf8 T A 7: 25,055,174 (GRCm39) I1969N probably benign Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Ngf A G 3: 102,427,521 (GRCm39) E94G probably benign Het
Oas2 C T 5: 120,876,734 (GRCm39) probably null Het
Odf2 A G 2: 29,782,256 (GRCm39) T75A probably benign Het
Or4f60 A G 2: 111,902,583 (GRCm39) L115P probably damaging Het
Or5w11 T A 2: 87,458,810 (GRCm39) M1K probably null Het
Pi4ka T A 16: 17,185,303 (GRCm39) I266F probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd2 T G 16: 20,475,402 (GRCm39) D393E probably benign Het
Rabep2 A G 7: 126,047,397 (GRCm39) I753T probably damaging Het
Rara A C 11: 98,858,937 (GRCm39) I129L probably damaging Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spmip4 T C 6: 50,551,190 (GRCm39) T420A probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Sptlc1 A T 13: 53,528,068 (GRCm39) I32K probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Sulf2 T C 2: 165,919,497 (GRCm39) E817G probably benign Het
Tiam2 C A 17: 3,501,128 (GRCm39) D922E probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Ttll12 A T 15: 83,465,958 (GRCm39) C413S probably damaging Het
Usp45 T A 4: 21,834,350 (GRCm39) Y809* probably null Het
Vmn2r59 G A 7: 41,661,644 (GRCm39) P724S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTGGATCCTCCCATCAAGCAG -3'
(R):5'- AGGCTTCTACCAGAGCACAC -3'

Sequencing Primer
(F):5'- GCAGGGCCAAACTCGTTAC -3'
(R):5'- CCCATCACAGGAGAGACTTCTTTAC -3'
Posted On 2015-06-24