Incidental Mutation 'IGL00502:Tspoap1'
ID 4520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tspoap1
Ensembl Gene ENSMUSG00000034156
Gene Name TSPO associated protein 1
Synonyms Bzrap1, peripheral
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00502
Quality Score
Status
Chromosome 11
Chromosomal Location 87651367-87676754 bp(+) (GRCm39)
Type of Mutation splice site (586 bp from exon)
DNA Base Change (assembly) A to G at 87668647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000039627] [ENSMUST00000100644]
AlphaFold Q7TNF8
Predicted Effect probably damaging
Transcript: ENSMUST00000039627
AA Change: I1307V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: I1307V

DomainStartEndE-ValueType
coiled coil region 121 190 N/A INTRINSIC
coiled coil region 219 249 N/A INTRINSIC
low complexity region 301 309 N/A INTRINSIC
coiled coil region 331 519 N/A INTRINSIC
low complexity region 598 612 N/A INTRINSIC
low complexity region 625 638 N/A INTRINSIC
SH3 652 715 1.85e-11 SMART
low complexity region 733 759 N/A INTRINSIC
FN3 784 864 3.14e0 SMART
FN3 878 951 4.81e-4 SMART
FN3 975 1062 7.16e0 SMART
low complexity region 1254 1265 N/A INTRINSIC
low complexity region 1301 1313 N/A INTRINSIC
low complexity region 1387 1401 N/A INTRINSIC
low complexity region 1455 1471 N/A INTRINSIC
SH3 1619 1683 5.4e-13 SMART
low complexity region 1721 1732 N/A INTRINSIC
SH3 1758 1821 5.48e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100644
AA Change: I1247V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: I1247V

DomainStartEndE-ValueType
coiled coil region 121 190 N/A INTRINSIC
low complexity region 241 249 N/A INTRINSIC
coiled coil region 271 459 N/A INTRINSIC
low complexity region 538 552 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
SH3 592 655 1.85e-11 SMART
low complexity region 673 699 N/A INTRINSIC
FN3 724 804 3.14e0 SMART
FN3 818 891 4.81e-4 SMART
FN3 915 1002 7.16e0 SMART
low complexity region 1194 1205 N/A INTRINSIC
low complexity region 1241 1253 N/A INTRINSIC
low complexity region 1327 1341 N/A INTRINSIC
low complexity region 1395 1411 N/A INTRINSIC
SH3 1559 1623 5.4e-13 SMART
low complexity region 1661 1672 N/A INTRINSIC
SH3 1698 1761 5.48e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133645
SMART Domains Protein: ENSMUSP00000117356
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 39 50 N/A INTRINSIC
SH3 88 151 5.48e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135957
Predicted Effect probably null
Transcript: ENSMUST00000142329
SMART Domains Protein: ENSMUSP00000118819
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 72 83 N/A INTRINSIC
SH3 157 221 5.4e-13 SMART
low complexity region 259 270 N/A INTRINSIC
SH3 296 359 5.48e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144502
SMART Domains Protein: ENSMUSP00000122665
Gene: ENSMUSG00000034156

DomainStartEndE-ValueType
low complexity region 146 157 N/A INTRINSIC
PDB:2CSQ|A 223 250 8e-8 PDB
Blast:SH3 231 251 5e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148814
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous double-KO with Rimbp2tm1.2Geno does not exacerbate the phenotype of the latter single KO. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,301,278 (GRCm39) I82N probably damaging Het
Ampd2 A T 3: 107,984,712 (GRCm39) L422H probably damaging Het
Angptl2 T A 2: 33,118,406 (GRCm39) V60E probably damaging Het
Ano3 G A 2: 110,601,395 (GRCm39) probably benign Het
Arhgap40 A G 2: 158,373,078 (GRCm39) D112G probably benign Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Btrc A T 19: 45,515,704 (GRCm39) E553V probably damaging Het
Cacna1b A T 2: 24,541,212 (GRCm39) Y1323* probably null Het
Ccdc146 A G 5: 21,506,420 (GRCm39) C674R possibly damaging Het
Ccdc170 A G 10: 4,496,836 (GRCm39) D458G probably damaging Het
Cfap57 T A 4: 118,438,198 (GRCm39) M898L probably benign Het
Crybg1 C T 10: 43,834,309 (GRCm39) V1961I probably damaging Het
Dsp T C 13: 38,381,822 (GRCm39) S2257P probably damaging Het
Dytn A G 1: 63,717,999 (GRCm39) V12A probably benign Het
Foxk2 A G 11: 121,187,925 (GRCm39) probably benign Het
Galnt2l T C 8: 125,054,837 (GRCm39) M204T probably damaging Het
Gfi1b G A 2: 28,504,797 (GRCm39) Q70* probably null Het
Gsdmc T C 15: 63,676,270 (GRCm39) T58A probably benign Het
Hikeshi G A 7: 89,572,818 (GRCm39) T26I probably benign Het
Mpdz T C 4: 81,287,960 (GRCm39) D433G probably damaging Het
Ndufb5 T A 3: 32,799,048 (GRCm39) V55D probably damaging Het
Nostrin T C 2: 69,014,336 (GRCm39) S431P probably benign Het
Pdcd1lg2 A T 19: 29,423,462 (GRCm39) T169S possibly damaging Het
Plekha7 A T 7: 115,734,419 (GRCm39) M1006K probably damaging Het
Rgs6 A T 12: 83,098,097 (GRCm39) I94F probably benign Het
Rims2 A T 15: 39,370,380 (GRCm39) D938V probably damaging Het
Slc4a8 A G 15: 100,705,319 (GRCm39) T842A possibly damaging Het
Spata21 C A 4: 140,838,675 (GRCm39) probably null Het
Stk32a C T 18: 43,443,510 (GRCm39) T229I possibly damaging Het
Tent4b C T 8: 88,978,886 (GRCm39) Q63* probably null Het
Trim33 C T 3: 103,237,498 (GRCm39) P185S probably benign Het
Vcan A G 13: 89,840,438 (GRCm39) V742A probably benign Het
Vrtn A T 12: 84,695,837 (GRCm39) I196F probably benign Het
Wasf1 A T 10: 40,796,293 (GRCm39) I8F probably damaging Het
Ythdc2 A G 18: 44,980,879 (GRCm39) I491M probably damaging Het
Zfp292 T C 4: 34,809,775 (GRCm39) T1095A possibly damaging Het
Other mutations in Tspoap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Tspoap1 APN 11 87,671,081 (GRCm39) missense possibly damaging 0.90
IGL02427:Tspoap1 APN 11 87,653,341 (GRCm39) missense probably benign 0.00
IGL02487:Tspoap1 APN 11 87,653,342 (GRCm39) missense possibly damaging 0.90
IGL02730:Tspoap1 APN 11 87,672,535 (GRCm39) missense probably damaging 0.98
IGL02979:Tspoap1 APN 11 87,661,347 (GRCm39) missense probably damaging 1.00
R0384:Tspoap1 UTSW 11 87,657,280 (GRCm39) missense probably damaging 1.00
R0396:Tspoap1 UTSW 11 87,667,172 (GRCm39) splice site probably benign
R0470:Tspoap1 UTSW 11 87,666,988 (GRCm39) missense probably damaging 0.99
R0637:Tspoap1 UTSW 11 87,668,066 (GRCm39) splice site probably benign
R0671:Tspoap1 UTSW 11 87,653,635 (GRCm39) missense probably damaging 1.00
R0960:Tspoap1 UTSW 11 87,661,421 (GRCm39) splice site probably benign
R0989:Tspoap1 UTSW 11 87,656,649 (GRCm39) missense probably damaging 0.99
R1396:Tspoap1 UTSW 11 87,656,946 (GRCm39) missense probably damaging 1.00
R1792:Tspoap1 UTSW 11 87,656,707 (GRCm39) splice site probably null
R2901:Tspoap1 UTSW 11 87,668,801 (GRCm39) missense probably benign 0.00
R2902:Tspoap1 UTSW 11 87,668,801 (GRCm39) missense probably benign 0.00
R3969:Tspoap1 UTSW 11 87,653,272 (GRCm39) missense probably damaging 1.00
R4400:Tspoap1 UTSW 11 87,666,429 (GRCm39) missense probably damaging 1.00
R4599:Tspoap1 UTSW 11 87,670,347 (GRCm39) missense probably damaging 1.00
R4635:Tspoap1 UTSW 11 87,668,683 (GRCm39) missense probably benign 0.25
R4731:Tspoap1 UTSW 11 87,656,473 (GRCm39) missense probably benign 0.09
R4755:Tspoap1 UTSW 11 87,662,489 (GRCm39) missense possibly damaging 0.77
R4780:Tspoap1 UTSW 11 87,669,269 (GRCm39) missense possibly damaging 0.48
R4960:Tspoap1 UTSW 11 87,657,222 (GRCm39) nonsense probably null
R5494:Tspoap1 UTSW 11 87,666,031 (GRCm39) missense possibly damaging 0.47
R5687:Tspoap1 UTSW 11 87,667,952 (GRCm39) missense probably damaging 1.00
R6200:Tspoap1 UTSW 11 87,652,529 (GRCm39) missense possibly damaging 0.85
R6563:Tspoap1 UTSW 11 87,667,985 (GRCm39) missense possibly damaging 0.87
R6816:Tspoap1 UTSW 11 87,656,491 (GRCm39) missense probably benign
R6897:Tspoap1 UTSW 11 87,656,638 (GRCm39) missense probably damaging 1.00
R7141:Tspoap1 UTSW 11 87,665,523 (GRCm39) missense probably damaging 1.00
R7215:Tspoap1 UTSW 11 87,661,315 (GRCm39) missense probably benign 0.02
R7341:Tspoap1 UTSW 11 87,657,205 (GRCm39) missense probably damaging 1.00
R7360:Tspoap1 UTSW 11 87,669,347 (GRCm39) missense probably benign 0.09
R7394:Tspoap1 UTSW 11 87,656,945 (GRCm39) nonsense probably null
R7483:Tspoap1 UTSW 11 87,652,351 (GRCm39) missense probably benign 0.00
R7617:Tspoap1 UTSW 11 87,654,451 (GRCm39) missense probably benign 0.02
R7793:Tspoap1 UTSW 11 87,655,136 (GRCm39) missense probably benign 0.00
R7814:Tspoap1 UTSW 11 87,666,350 (GRCm39) missense probably damaging 1.00
R8371:Tspoap1 UTSW 11 87,669,127 (GRCm39) missense probably benign 0.01
R8768:Tspoap1 UTSW 11 87,669,197 (GRCm39) missense probably benign 0.03
R8987:Tspoap1 UTSW 11 87,654,394 (GRCm39) missense probably damaging 1.00
R9004:Tspoap1 UTSW 11 87,670,284 (GRCm39) missense
R9259:Tspoap1 UTSW 11 87,670,350 (GRCm39) missense
R9339:Tspoap1 UTSW 11 87,668,839 (GRCm39) missense probably benign 0.01
R9424:Tspoap1 UTSW 11 87,652,082 (GRCm39) start gained probably benign
R9439:Tspoap1 UTSW 11 87,665,535 (GRCm39) missense probably damaging 0.98
R9455:Tspoap1 UTSW 11 87,661,359 (GRCm39) missense probably damaging 1.00
Z1176:Tspoap1 UTSW 11 87,666,883 (GRCm39) missense possibly damaging 0.51
Posted On 2012-04-20