Incidental Mutation 'R2191:Sipa1l1'
ID 238131
Institutional Source Beutler Lab
Gene Symbol Sipa1l1
Ensembl Gene ENSMUSG00000042700
Gene Name signal-induced proliferation-associated 1 like 1
Synonyms Spar, 4931426N11Rik
MMRRC Submission 040193-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2191 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 82216138-82498560 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 82443465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 918 (Y918*)
Ref Sequence ENSEMBL: ENSMUSP00000152212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]
AlphaFold Q8C0T5
Predicted Effect probably null
Transcript: ENSMUST00000053969
AA Change: Y918*
SMART Domains Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: Y918*

DomainStartEndE-ValueType
low complexity region 92 129 N/A INTRINSIC
low complexity region 362 377 N/A INTRINSIC
low complexity region 430 449 N/A INTRINSIC
Pfam:Rap_GAP 628 810 8.9e-70 PFAM
PDZ 962 1028 2.63e-9 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1255 1279 N/A INTRINSIC
low complexity region 1315 1328 N/A INTRINSIC
low complexity region 1432 1447 N/A INTRINSIC
Pfam:SPAR_C 1483 1727 4.4e-86 PFAM
low complexity region 1731 1746 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166429
AA Change: Y918*
SMART Domains Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: Y918*

DomainStartEndE-ValueType
low complexity region 92 129 N/A INTRINSIC
low complexity region 362 377 N/A INTRINSIC
low complexity region 430 449 N/A INTRINSIC
Pfam:Rap_GAP 628 816 1.3e-64 PFAM
PDZ 962 1028 1.3e-11 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1255 1279 N/A INTRINSIC
low complexity region 1315 1328 N/A INTRINSIC
low complexity region 1432 1447 N/A INTRINSIC
Pfam:DUF3401 1483 1727 1.8e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220766
Predicted Effect probably null
Transcript: ENSMUST00000220963
AA Change: Y918*
Predicted Effect probably null
Transcript: ENSMUST00000222298
AA Change: Y918*
Predicted Effect probably null
Transcript: ENSMUST00000222714
AA Change: Y918*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,078,865 (GRCm39) S716P possibly damaging Het
Abcb5 A C 12: 118,831,691 (GRCm39) N1220K probably damaging Het
Acsl3 A T 1: 78,676,857 (GRCm39) E479D probably damaging Het
Actn1 A T 12: 80,218,576 (GRCm39) L736* probably null Het
Adcyap1 A G 17: 93,507,454 (GRCm39) S5G possibly damaging Het
Adgrv1 T C 13: 81,714,409 (GRCm39) N958S possibly damaging Het
Armc1 T A 3: 19,188,225 (GRCm39) N274Y probably damaging Het
Atp9b G A 18: 80,796,266 (GRCm39) R926W probably damaging Het
Cacna1e G T 1: 154,319,591 (GRCm39) Q1370K probably damaging Het
Cdip1 C T 16: 4,587,927 (GRCm39) S12N probably benign Het
Chrna3 T A 9: 54,923,329 (GRCm39) I160F probably damaging Het
Cnot1 A G 8: 96,488,054 (GRCm39) I534T probably damaging Het
Cr2 T A 1: 194,845,689 (GRCm39) I465F possibly damaging Het
Daw1 A G 1: 83,170,384 (GRCm39) D232G probably benign Het
Dcaf6 T C 1: 165,250,433 (GRCm39) T144A probably benign Het
Dhx30 A T 9: 109,915,186 (GRCm39) probably null Het
Dnah7a A G 1: 53,645,034 (GRCm39) S1001P possibly damaging Het
Dnajb9 T C 12: 44,253,856 (GRCm39) T184A probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Edem3 T A 1: 151,672,634 (GRCm39) V450D probably damaging Het
Ephb6 G T 6: 41,593,019 (GRCm39) R419L possibly damaging Het
Fbxo10 G C 4: 45,044,811 (GRCm39) P608R probably damaging Het
Flrt1 A G 19: 7,073,194 (GRCm39) I451T probably damaging Het
Gm6309 A T 5: 146,105,681 (GRCm39) V161E possibly damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Igsf1 C A X: 48,872,027 (GRCm39) L714F probably damaging Het
Inpp4b C T 8: 82,723,931 (GRCm39) P488S probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Itprid1 A T 6: 55,944,704 (GRCm39) Q475L probably benign Het
Kdm2a A T 19: 4,406,959 (GRCm39) probably null Het
Khdrbs3 G T 15: 68,964,809 (GRCm39) V249F probably damaging Het
Kmt2d A T 15: 98,758,930 (GRCm39) probably null Het
Laptm4a T C 12: 8,972,296 (GRCm39) probably null Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc37 A C 11: 103,509,793 (GRCm39) probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myo18a A G 11: 77,709,441 (GRCm39) D138G probably damaging Het
Nlrp9b A T 7: 19,757,587 (GRCm39) I275L probably benign Het
Nol6 C T 4: 41,118,720 (GRCm39) R719H probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or2a54 T C 6: 43,092,999 (GRCm39) S108P probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or8g23 A T 9: 38,971,701 (GRCm39) I87K probably benign Het
Pclo C T 5: 14,763,862 (GRCm39) L4112F unknown Het
Pglyrp2 T C 17: 32,634,931 (GRCm39) N477S probably benign Het
Phf20 T C 2: 156,118,574 (GRCm39) V426A probably benign Het
Pla2g4e CTT CTTT 2: 120,021,680 (GRCm39) probably null Het
Plagl1 A C 10: 13,004,685 (GRCm39) probably benign Het
Ppip5k2 A G 1: 97,671,835 (GRCm39) V479A probably damaging Het
Prkdc A C 16: 15,516,688 (GRCm39) T1021P probably damaging Het
Rdh7 C T 10: 127,724,467 (GRCm39) V6I probably benign Het
Rictor A T 15: 6,789,095 (GRCm39) H237L probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rttn T C 18: 89,113,772 (GRCm39) probably null Het
Setd5 C T 6: 113,088,390 (GRCm39) Q173* probably null Het
Slc13a1 T G 6: 24,134,396 (GRCm39) E162D possibly damaging Het
Slc39a9 G A 12: 80,709,301 (GRCm39) A52T probably damaging Het
Srebf1 T C 11: 60,111,365 (GRCm39) D2G probably damaging Het
Stab1 A T 14: 30,864,757 (GRCm39) M66K probably benign Het
Stab1 T C 14: 30,881,227 (GRCm39) N601S probably damaging Het
Sv2b C T 7: 74,773,836 (GRCm39) G545D probably damaging Het
Syt5 G A 7: 4,546,088 (GRCm39) Q101* probably null Het
Thada A G 17: 84,753,949 (GRCm39) F341L probably benign Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Tmem67 C G 4: 12,069,413 (GRCm39) probably null Het
Tonsl G T 15: 76,516,880 (GRCm39) L917M probably damaging Het
Ttk A G 9: 83,744,236 (GRCm39) K519E probably damaging Het
Ttn T C 2: 76,537,478 (GRCm39) T34817A probably benign Het
Ubr1 A T 2: 120,756,528 (GRCm39) S700T probably damaging Het
Unc13b C A 4: 43,245,566 (GRCm39) C1312* probably null Het
Usp36 A G 11: 118,175,849 (GRCm39) L104P possibly damaging Het
Vmn1r216 T C 13: 23,283,403 (GRCm39) F29L probably benign Het
Vmn1r225 T C 17: 20,723,147 (GRCm39) I196T probably damaging Het
Vmn1r50 T C 6: 90,085,121 (GRCm39) F289L probably benign Het
Ythdf3 T C 3: 16,257,375 (GRCm39) probably benign Het
Zfp507 T A 7: 35,494,268 (GRCm39) K258N probably damaging Het
Zscan5b A G 7: 6,234,442 (GRCm39) H156R possibly damaging Het
Other mutations in Sipa1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Sipa1l1 APN 12 82,434,470 (GRCm39) missense probably benign 0.06
IGL01478:Sipa1l1 APN 12 82,493,672 (GRCm39) missense probably benign 0.00
IGL01620:Sipa1l1 APN 12 82,469,263 (GRCm39) missense probably damaging 0.97
IGL02496:Sipa1l1 APN 12 82,471,868 (GRCm39) missense probably damaging 1.00
IGL02550:Sipa1l1 APN 12 82,487,723 (GRCm39) nonsense probably null
IGL02689:Sipa1l1 APN 12 82,487,594 (GRCm39) missense probably benign 0.01
IGL02706:Sipa1l1 APN 12 82,444,207 (GRCm39) missense possibly damaging 0.95
IGL02995:Sipa1l1 APN 12 82,404,105 (GRCm39) missense probably benign 0.39
IGL03104:Sipa1l1 APN 12 82,388,904 (GRCm39) missense probably benign 0.05
IGL03295:Sipa1l1 APN 12 82,479,714 (GRCm39) missense probably damaging 1.00
bullae UTSW 12 82,389,024 (GRCm39) missense probably damaging 1.00
bullish UTSW 12 82,469,245 (GRCm39) nonsense probably null
ebullient UTSW 12 82,388,446 (GRCm39) missense probably benign 0.18
PIT4431001:Sipa1l1 UTSW 12 82,443,290 (GRCm39) missense probably benign 0.34
R0140:Sipa1l1 UTSW 12 82,442,974 (GRCm39) missense probably damaging 1.00
R0348:Sipa1l1 UTSW 12 82,431,530 (GRCm39) critical splice donor site probably null
R0534:Sipa1l1 UTSW 12 82,472,054 (GRCm39) missense possibly damaging 0.94
R0538:Sipa1l1 UTSW 12 82,471,873 (GRCm39) missense probably benign 0.00
R0547:Sipa1l1 UTSW 12 82,484,510 (GRCm39) missense probably benign
R0980:Sipa1l1 UTSW 12 82,388,994 (GRCm39) missense possibly damaging 0.60
R1051:Sipa1l1 UTSW 12 82,496,119 (GRCm39) missense possibly damaging 0.48
R1244:Sipa1l1 UTSW 12 82,472,190 (GRCm39) missense probably benign 0.00
R1473:Sipa1l1 UTSW 12 82,387,885 (GRCm39) missense probably damaging 1.00
R1508:Sipa1l1 UTSW 12 82,487,667 (GRCm39) missense probably damaging 1.00
R1563:Sipa1l1 UTSW 12 82,387,935 (GRCm39) missense probably benign 0.31
R1671:Sipa1l1 UTSW 12 82,444,235 (GRCm39) missense probably damaging 1.00
R1935:Sipa1l1 UTSW 12 82,419,208 (GRCm39) missense probably damaging 1.00
R1950:Sipa1l1 UTSW 12 82,388,233 (GRCm39) missense probably damaging 0.98
R2249:Sipa1l1 UTSW 12 82,388,890 (GRCm39) missense probably benign
R2909:Sipa1l1 UTSW 12 82,404,105 (GRCm39) missense probably benign 0.39
R4012:Sipa1l1 UTSW 12 82,388,556 (GRCm39) missense possibly damaging 0.86
R4154:Sipa1l1 UTSW 12 82,471,988 (GRCm39) missense possibly damaging 0.95
R4382:Sipa1l1 UTSW 12 82,493,596 (GRCm39) missense possibly damaging 0.46
R4448:Sipa1l1 UTSW 12 82,388,524 (GRCm39) missense probably benign 0.15
R4651:Sipa1l1 UTSW 12 82,469,245 (GRCm39) nonsense probably null
R4652:Sipa1l1 UTSW 12 82,469,245 (GRCm39) nonsense probably null
R4751:Sipa1l1 UTSW 12 82,387,968 (GRCm39) missense probably benign
R4755:Sipa1l1 UTSW 12 82,419,160 (GRCm39) missense possibly damaging 0.74
R4888:Sipa1l1 UTSW 12 82,389,107 (GRCm39) missense probably damaging 0.96
R4912:Sipa1l1 UTSW 12 82,443,452 (GRCm39) missense possibly damaging 0.89
R4937:Sipa1l1 UTSW 12 82,388,103 (GRCm39) missense probably benign 0.01
R5068:Sipa1l1 UTSW 12 82,484,601 (GRCm39) missense probably damaging 1.00
R5113:Sipa1l1 UTSW 12 82,487,682 (GRCm39) missense probably benign 0.11
R5114:Sipa1l1 UTSW 12 82,487,682 (GRCm39) missense probably benign 0.11
R5240:Sipa1l1 UTSW 12 82,388,362 (GRCm39) missense possibly damaging 0.92
R6041:Sipa1l1 UTSW 12 82,389,024 (GRCm39) missense probably damaging 1.00
R6048:Sipa1l1 UTSW 12 82,487,643 (GRCm39) missense probably benign 0.03
R6170:Sipa1l1 UTSW 12 82,388,446 (GRCm39) missense probably benign 0.18
R6185:Sipa1l1 UTSW 12 82,471,802 (GRCm39) missense probably damaging 1.00
R6326:Sipa1l1 UTSW 12 82,419,242 (GRCm39) missense probably damaging 1.00
R6842:Sipa1l1 UTSW 12 82,467,320 (GRCm39) missense probably benign 0.00
R7008:Sipa1l1 UTSW 12 82,409,886 (GRCm39) missense probably damaging 0.99
R7058:Sipa1l1 UTSW 12 82,449,896 (GRCm39) missense probably benign 0.00
R7069:Sipa1l1 UTSW 12 82,388,180 (GRCm39) missense probably damaging 0.99
R7122:Sipa1l1 UTSW 12 82,469,236 (GRCm39) missense possibly damaging 0.79
R7310:Sipa1l1 UTSW 12 82,419,269 (GRCm39) missense probably damaging 1.00
R7469:Sipa1l1 UTSW 12 82,467,438 (GRCm39) critical splice donor site probably null
R7718:Sipa1l1 UTSW 12 82,389,271 (GRCm39) missense probably damaging 1.00
R7787:Sipa1l1 UTSW 12 82,496,762 (GRCm39) missense possibly damaging 0.81
R7844:Sipa1l1 UTSW 12 82,444,267 (GRCm39) missense probably damaging 1.00
R7893:Sipa1l1 UTSW 12 82,388,342 (GRCm39) missense probably benign 0.00
R7953:Sipa1l1 UTSW 12 82,496,700 (GRCm39) missense probably damaging 1.00
R8043:Sipa1l1 UTSW 12 82,496,700 (GRCm39) missense probably damaging 1.00
R8099:Sipa1l1 UTSW 12 82,480,600 (GRCm39) missense probably benign 0.08
R8135:Sipa1l1 UTSW 12 82,388,075 (GRCm39) missense probably benign
R8229:Sipa1l1 UTSW 12 82,484,622 (GRCm39) missense probably damaging 1.00
R8348:Sipa1l1 UTSW 12 82,443,045 (GRCm39) missense probably benign 0.13
R8388:Sipa1l1 UTSW 12 82,216,259 (GRCm39) unclassified probably benign
R8693:Sipa1l1 UTSW 12 82,216,517 (GRCm39) unclassified probably benign
R8826:Sipa1l1 UTSW 12 82,389,207 (GRCm39) missense probably damaging 1.00
R8884:Sipa1l1 UTSW 12 82,409,871 (GRCm39) missense probably damaging 0.99
R8940:Sipa1l1 UTSW 12 82,404,040 (GRCm39) missense probably damaging 1.00
R8975:Sipa1l1 UTSW 12 82,479,612 (GRCm39) missense possibly damaging 0.87
R9145:Sipa1l1 UTSW 12 82,443,335 (GRCm39) missense probably benign 0.01
R9328:Sipa1l1 UTSW 12 82,388,792 (GRCm39) missense possibly damaging 0.63
R9455:Sipa1l1 UTSW 12 82,434,399 (GRCm39) missense probably damaging 1.00
R9486:Sipa1l1 UTSW 12 82,404,139 (GRCm39) critical splice donor site probably null
R9631:Sipa1l1 UTSW 12 82,387,776 (GRCm39) start codon destroyed probably null 0.39
R9727:Sipa1l1 UTSW 12 82,471,829 (GRCm39) missense probably damaging 1.00
R9753:Sipa1l1 UTSW 12 82,463,763 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCTGGCCTCCAAGAAGAAGG -3'
(R):5'- GGAATTGCCAGAGTAGCCAATC -3'

Sequencing Primer
(F):5'- AGGAAAAGTCTAAGCCTTATCCAG -3'
(R):5'- TGCCAGAGTAGCCAATCTTGCC -3'
Posted On 2014-10-02