Incidental Mutation 'R9776:Sap25'
ID 733694
Institutional Source Beutler Lab
Gene Symbol Sap25
Ensembl Gene ENSMUSG00000079165
Gene Name sin3 associated polypeptide
Synonyms 25 kDa
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 137639735-137641164 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 137640702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000057314] [ENSMUST00000166099] [ENSMUST00000166099] [ENSMUST00000175968] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000177477] [ENSMUST00000177545] [ENSMUST00000196511]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031734
SMART Domains Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057314
SMART Domains Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182

DomainStartEndE-ValueType
PH 33 135 4.46e-11 SMART
IRS 159 272 1.18e-30 SMART
PTBI 159 272 7.23e-55 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166099
SMART Domains Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

DomainStartEndE-ValueType
Pfam:SAP25 76 261 1.8e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166099
SMART Domains Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

DomainStartEndE-ValueType
Pfam:SAP25 76 261 1.8e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175968
SMART Domains Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRR 36 58 4.84e1 SMART
LRR_TYP 59 82 4.61e-5 SMART
LRR 104 126 2.63e0 SMART
LRR_TYP 127 150 1.1e-2 SMART
LRR 172 195 3.98e1 SMART
low complexity region 335 351 N/A INTRINSIC
low complexity region 386 399 N/A INTRINSIC
low complexity region 420 425 N/A INTRINSIC
low complexity region 456 476 N/A INTRINSIC
CH 479 588 9.24e-15 SMART
transmembrane domain 602 624 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176667
SMART Domains Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 648 4.73e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176768
Predicted Effect probably benign
Transcript: ENSMUST00000176871
Predicted Effect probably benign
Transcript: ENSMUST00000177466
Predicted Effect probably benign
Transcript: ENSMUST00000177477
SMART Domains Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177545
SMART Domains Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196511
SMART Domains Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182

DomainStartEndE-ValueType
PH 33 135 4.46e-11 SMART
IRS 159 272 1.18e-30 SMART
PTBI 159 272 7.23e-55 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
2010109A12Rik T A 5: 93,361,305 (GRCm39) *120K probably null Het
2700049A03Rik A G 12: 71,235,448 (GRCm39) T1133A possibly damaging Het
A830005F24Rik G A 13: 48,667,758 (GRCm39) R20Q unknown Het
Acta2 T C 19: 34,223,481 (GRCm39) T205A probably benign Het
Adcy5 A G 16: 35,100,725 (GRCm39) D759G probably damaging Het
Ankk1 T A 9: 49,330,714 (GRCm39) M276L probably benign Het
Arfgef2 G A 2: 166,713,447 (GRCm39) E1283K probably damaging Het
Arhgef26 G T 3: 62,246,803 (GRCm39) probably benign Het
Arhgef28 A C 13: 98,133,415 (GRCm39) S351A probably benign Het
Arih2 C T 9: 108,484,504 (GRCm39) G436S probably damaging Het
Bptf T C 11: 106,969,396 (GRCm39) T1013A probably damaging Het
Camsap1 A T 2: 25,828,166 (GRCm39) V1186E probably benign Het
Capn10 G T 1: 92,871,586 (GRCm39) A395S possibly damaging Het
Ccdc184 A T 15: 98,066,737 (GRCm39) T181S probably damaging Het
Clasp1 T C 1: 118,509,108 (GRCm39) I1345T possibly damaging Het
Cpsf1 A T 15: 76,486,779 (GRCm39) H252Q probably damaging Het
Ctnna2 T A 6: 77,582,172 (GRCm39) M363L probably benign Het
Cyp24a1 G A 2: 170,338,625 (GRCm39) P24S probably benign Het
D130040H23Rik A G 8: 69,755,566 (GRCm39) H341R probably damaging Het
Dclk3 A G 9: 111,298,226 (GRCm39) E590G probably damaging Het
Ear2 A T 14: 44,340,729 (GRCm39) Y129F probably benign Het
Egf A G 3: 129,530,514 (GRCm39) L216P probably damaging Het
Fbxw9 T A 8: 85,792,523 (GRCm39) H319Q probably damaging Het
Gipr A G 7: 18,891,487 (GRCm39) S397P probably damaging Het
Gxylt2 G T 6: 100,682,072 (GRCm39) E90* probably null Het
Hnf1b T C 11: 83,784,283 (GRCm39) V473A probably benign Het
Iffo1 G A 6: 125,130,436 (GRCm39) E475K probably damaging Het
Ifi206 T A 1: 173,308,075 (GRCm39) R640S Het
Ipmk A G 10: 71,217,439 (GRCm39) S328G probably damaging Het
Kcnq1 A T 7: 142,737,368 (GRCm39) I229F probably damaging Het
Kif9 C A 9: 110,350,398 (GRCm39) T763N probably benign Het
Klhl36 C T 8: 120,601,129 (GRCm39) Q383* probably null Het
Lrp4 G T 2: 91,316,179 (GRCm39) V766F probably damaging Het
Mettl26 T A 17: 26,094,511 (GRCm39) M3K probably benign Het
Muc16 T A 9: 18,570,675 (GRCm39) I615F unknown Het
Myo7b T A 18: 32,133,068 (GRCm39) Q427L probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Ncapg G A 5: 45,829,834 (GRCm39) V179I probably damaging Het
Nme4 C T 17: 26,314,410 (GRCm39) G6E possibly damaging Het
Nr1h4 T C 10: 89,319,311 (GRCm39) Y185C probably damaging Het
Nt5c3b T C 11: 100,327,012 (GRCm39) I95V probably benign Het
Ntaq1 A G 15: 58,004,913 (GRCm39) T9A probably benign Het
Or2y3 C T 17: 38,393,470 (GRCm39) R133H probably benign Het
Or5g9 A T 2: 85,552,145 (GRCm39) Y132F probably damaging Het
Or5t16 A T 2: 86,819,055 (GRCm39) I155N probably damaging Het
Pappa2 G T 1: 158,611,481 (GRCm39) P1494Q probably damaging Het
Pdzd2 A G 15: 12,457,909 (GRCm39) F144S probably benign Het
Phactr3 A G 2: 177,975,896 (GRCm39) H547R probably damaging Het
Pik3c2b T A 1: 133,018,588 (GRCm39) S1012T possibly damaging Het
Plppr2 G A 9: 21,859,107 (GRCm39) G408D probably damaging Het
Pom121 T A 5: 135,420,554 (GRCm39) N289I unknown Het
Ppa1 T A 10: 61,487,362 (GRCm39) S30T probably damaging Het
Rgs5 A T 1: 169,518,089 (GRCm39) K108* probably null Het
Rpap1 A G 2: 119,607,278 (GRCm39) V287A probably benign Het
Ryr1 A G 7: 28,774,664 (GRCm39) Y2326H probably damaging Het
Ryr2 A G 13: 11,707,599 (GRCm39) S2813P probably damaging Het
Senp5 T C 16: 31,782,279 (GRCm39) Y739C probably damaging Het
Slc25a29 A T 12: 108,793,017 (GRCm39) L187Q possibly damaging Het
Slc7a2 C T 8: 41,358,641 (GRCm39) T328M probably damaging Het
Slc7a8 T C 14: 55,018,759 (GRCm39) N9S probably benign Het
Snx18 A G 13: 113,754,039 (GRCm39) V298A probably benign Het
Spo11 T A 2: 172,833,904 (GRCm39) I342N possibly damaging Het
Ssc5d A G 7: 4,932,367 (GRCm39) K344E probably benign Het
Sspo A T 6: 48,439,269 (GRCm39) D1639V probably benign Het
Stk32b T C 5: 37,617,001 (GRCm39) D285G probably benign Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Syt5 A G 7: 4,544,831 (GRCm39) L274P probably damaging Het
Tas1r2 T C 4: 139,396,208 (GRCm39) S545P possibly damaging Het
Tbc1d17 T G 7: 44,490,696 (GRCm39) D632A probably damaging Het
Tbc1d2 A G 4: 46,650,007 (GRCm39) S10P probably benign Het
Tlk1 A T 2: 70,555,908 (GRCm39) I417N probably damaging Het
Tmem184a C T 5: 139,791,984 (GRCm39) R348H possibly damaging Het
Togaram2 T A 17: 72,023,508 (GRCm39) V808D possibly damaging Het
Tpr A G 1: 150,324,939 (GRCm39) Q2397R probably benign Het
Trav7-4 A G 14: 53,698,994 (GRCm39) D47G possibly damaging Het
Usp17le T A 7: 104,419,814 (GRCm39) M35L probably benign Het
Vegfc C T 8: 54,633,829 (GRCm39) S262L probably benign Het
Vmn2r74 T A 7: 85,605,212 (GRCm39) I479L possibly damaging Het
Vps13a A T 19: 16,736,958 (GRCm39) F126L probably benign Het
Zfp945 C A 17: 23,070,582 (GRCm39) C460F possibly damaging Het
Zmym4 G T 4: 126,804,942 (GRCm39) S439R possibly damaging Het
Zscan4-ps3 A G 7: 11,344,093 (GRCm39) E17G probably damaging Het
Other mutations in Sap25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01996:Sap25 APN 5 137,640,080 (GRCm39) critical splice donor site probably null
IGL02442:Sap25 APN 5 137,640,257 (GRCm39) missense probably benign 0.02
IGL02651:Sap25 APN 5 137,640,632 (GRCm39) missense possibly damaging 0.92
R1464:Sap25 UTSW 5 137,640,622 (GRCm39) nonsense probably null
R1464:Sap25 UTSW 5 137,640,622 (GRCm39) nonsense probably null
R1748:Sap25 UTSW 5 137,640,180 (GRCm39) splice site probably null
R2058:Sap25 UTSW 5 137,641,034 (GRCm39) missense probably damaging 1.00
R2174:Sap25 UTSW 5 137,640,891 (GRCm39) missense possibly damaging 0.73
R3768:Sap25 UTSW 5 137,640,632 (GRCm39) missense probably damaging 0.97
R4920:Sap25 UTSW 5 137,640,507 (GRCm39) unclassified probably benign
R5722:Sap25 UTSW 5 137,639,713 (GRCm39) missense probably benign 0.25
R7340:Sap25 UTSW 5 137,640,935 (GRCm39) missense probably benign 0.11
R7775:Sap25 UTSW 5 137,640,186 (GRCm39) missense probably benign
R9336:Sap25 UTSW 5 137,639,985 (GRCm39) missense probably benign
R9510:Sap25 UTSW 5 137,640,494 (GRCm39) missense probably null 0.89
Predicted Primers PCR Primer
(F):5'- GCTCAGTTGTGAAGTTGCC -3'
(R):5'- ATCTGCAGCAGACCAGCAAG -3'

Sequencing Primer
(F):5'- AGTTGCCAGGGAAGCTGC -3'
(R):5'- AAGGGCGATCATCTCTGCCTC -3'
Posted On 2022-11-14